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Entry version 173 (18 Sep 2019)
Sequence version 3 (23 Jan 2007)
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Protein

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1

Gene

GNB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTransducer

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-202040 G-protein activation
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-381753 Olfactory Signaling Pathway
R-HSA-392170 ADP signalling through P2Y purinoceptor 12
R-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398 Ca2+ pathway
R-HSA-416476 G alpha (q) signalling events
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-418555 G alpha (s) signalling events
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315 G beta:gamma signalling through BTK
R-HSA-8964616 G beta:gamma signalling through CDC42
R-HSA-9009391 Extra-nuclear estrogen signaling
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
P62873

SIGNOR Signaling Network Open Resource

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SIGNORi
P62873

Protein family/group databases

Transport Classification Database

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TCDBi
8.A.92.1.1 the g-protein AlphaBetaGama complex (gpc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1
Alternative name(s):
Transducin beta chain 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GNB1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:4396 GNB1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
139380 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P62873

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Mental retardation, autosomal dominant 42 (MRD42)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD42 patients manifest global developmental delay commonly accompanied by hypotonia, seizures of various types, ophthalmological manifestations, and poor growth.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07827930L → F in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits; no effect on receptor-driven G protein activation. 1 PublicationCorresponds to variant dbSNP:rs764997309Ensembl.1
Natural variantiVAR_07828052R → G in MRD42; decreases receptor-driven G protein activation; no effect on protein abundance; no effect on complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit. 1 Publication1
Natural variantiVAR_07828164G → V in MRD42; decreases receptor-driven G protein activation; decreases protein abundance; decreases complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit. 1 Publication1
Natural variantiVAR_07664476D → E in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312822EnsemblClinVar.1
Natural variantiVAR_07664376D → G in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312821EnsemblClinVar.1
Natural variantiVAR_07664577G → S in MRD42. 1 PublicationCorresponds to variant dbSNP:rs758432471EnsemblClinVar.1
Natural variantiVAR_07664678K → R in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312823EnsemblClinVar.1
Natural variantiVAR_07664780I → N in MRD42; also found in patients with acute lymphoblastic T-cell leukemia; reduces interaction with GNAI2, GNAI3, GNA13 and GNA11; induces activation of PI3K-AKT-mTOR and MAPK pathways. 2 PublicationsCorresponds to variant dbSNP:rs752746786EnsemblClinVar.1
Natural variantiVAR_07664880I → T in MRD42; also found in patient with hematologic malignancies; reduces interaction with GNAI2, GNAI3, GNA13 and GNA11; induces activation of PI3K-AKT-mTOR and MAPK pathways. 2 PublicationsCorresponds to variant dbSNP:rs752746786EnsemblClinVar.1
Natural variantiVAR_07828291H → R in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with apha and gamma subunits; no effect on receptor-driven G protein activation. 1 Publication1
Natural variantiVAR_07828392A → T in MRD42; decreases receptor-driven G protein activation; increases trimer formation with alpha and gamma subunits; no effect on protein abundance; no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_07828494P → S in MRD42; decreases receptor-driven G protein activation; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance;no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_07664995L → P in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312824EnsemblClinVar.1
Natural variantiVAR_07828596R → L in MRD42; decreases receptor-driven G protein activation; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance; no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_076650101M → V in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312825EnsemblClinVar.1
Natural variantiVAR_078286106A → T in MRD42; decreases receptor-driven G protein activation; decreases complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance. 1 Publication1
Natural variantiVAR_078287118D → G in MRD42; decreases receptor-driven G protein activation; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits. 2 PublicationsCorresponds to variant dbSNP:rs1553194162EnsemblClinVar.1
Natural variantiVAR_076651326A → T in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312826EnsemblClinVar.1
Natural variantiVAR_078288337K → Q in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits; no effect on receptor-driven G protein activation. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

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DisGeNETi
2782

MalaCards human disease database

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MalaCardsi
GNB1
MIMi616973 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000078369

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28776

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3883319

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GNB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
51317302

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources2 Publications
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001276872 – 340Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1Add BLAST339

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources2 Publications1
Modified residuei2PhosphoserineCombined sources1
Modified residuei266PhosphohistidineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at His-266 by NDKB contributes to G protein activation by increasing the high energetic phosphate transfer onto GDP.By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P62873

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P62873

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P62873

MaxQB - The MaxQuant DataBase

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MaxQBi
P62873

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P62873

PeptideAtlas

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PeptideAtlasi
P62873

PRoteomics IDEntifications database

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PRIDEi
P62873

ProteomicsDB human proteome resource

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ProteomicsDBi
57441 [P62873-1]

2D gel databases

USC-OGP 2-DE database

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OGPi
P62873

REPRODUCTION-2DPAGE

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REPRODUCTION-2DPAGEi
IPI00026268

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P62873

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P62873

SwissPalm database of S-palmitoylation events

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SwissPalmi
P62873

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000078369 Expressed in 239 organ(s), highest expression level in putamen

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P62873 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P62873 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA040736

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

G proteins are composed of 3 units, alpha, beta and gamma.

Interacts with ARHGEF18 and RASD2 (PubMed:14512443, PubMed:19255495). The heterodimer formed by GNB1 and GNG2 interacts with ARHGEF5 (PubMed:19713215).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109044, 127 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P62873

Database of interacting proteins

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DIPi
DIP-599N

Protein interaction database and analysis system

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IntActi
P62873, 65 interactors

Molecular INTeraction database

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MINTi
P62873

STRING: functional protein association networks

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STRINGi
9606.ENSP00000481878

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1340
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P62873

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P62873

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati53 – 83WD 1Add BLAST31
Repeati95 – 125WD 2Add BLAST31
Repeati141 – 170WD 3Add BLAST30
Repeati182 – 212WD 4Add BLAST31
Repeati224 – 254WD 5Add BLAST31
Repeati268 – 298WD 6Add BLAST31
Repeati310 – 340WD 7Add BLAST31

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the WD repeat G protein beta family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0286 Eukaryota
ENOG410XQUX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182737

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000176356

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P62873

KEGG Orthology (KO)

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KOi
K04536

Identification of Orthologs from Complete Genome Data

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OMAi
TCNVWDT

Database of Orthologous Groups

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OrthoDBi
704786at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P62873

TreeFam database of animal gene trees

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TreeFami
TF106149

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR001632 Gprotein_B
IPR016346 Guanine_nucleotide-bd_bsu
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf

The PANTHER Classification System

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PANTHERi
PTHR19850 PTHR19850, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00400 WD40, 7 hits

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00319 GPROTEINB
PR00320 GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits
PS50082 WD_REPEATS_2, 6 hits
PS50294 WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P62873-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSELDQLRQE AEQLKNQIRD ARKACADATL SQITNNIDPV GRIQMRTRRT
60 70 80 90 100
LRGHLAKIYA MHWGTDSRLL VSASQDGKLI IWDSYTTNKV HAIPLRSSWV
110 120 130 140 150
MTCAYAPSGN YVACGGLDNI CSIYNLKTRE GNVRVSRELA GHTGYLSCCR
160 170 180 190 200
FLDDNQIVTS SGDTTCALWD IETGQQTTTF TGHTGDVMSL SLAPDTRLFV
210 220 230 240 250
SGACDASAKL WDVREGMCRQ TFTGHESDIN AICFFPNGNA FATGSDDATC
260 270 280 290 300
RLFDLRADQE LMTYSHDNII CGITSVSFSK SGRLLLAGYD DFNCNVWDAL
310 320 330 340
KADRAGVLAG HDNRVSCLGV TDDGMAVATG SWDSFLKIWN
Length:340
Mass (Da):37,377
Last modified:January 23, 2007 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i896CBD32D2686598
GO
Isoform 2 (identifier: P62873-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     329-340: TGSWDSFLKIWN → SVLG

Note: No experimental confirmation available.
Show »
Length:332
Mass (Da):36,298
Checksum:iB974CB3B43FEFFC4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AKQ8B1AKQ8_HUMAN
Guanine nucleotide-binding protein ...
GNB1
107Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6UT28F6UT28_HUMAN
Guanine nucleotide-binding protein ...
GNB1
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F6X3N5F6X3N5_HUMAN
Guanine nucleotide-binding protein ...
GNB1
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B3KVK2B3KVK2_HUMAN
Guanine nucleotide-binding protein ...
GNB1
240Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07827930L → F in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits; no effect on receptor-driven G protein activation. 1 PublicationCorresponds to variant dbSNP:rs764997309Ensembl.1
Natural variantiVAR_07828052R → G in MRD42; decreases receptor-driven G protein activation; no effect on protein abundance; no effect on complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit. 1 Publication1
Natural variantiVAR_07828164G → V in MRD42; decreases receptor-driven G protein activation; decreases protein abundance; decreases complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit. 1 Publication1
Natural variantiVAR_07664476D → E in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312822EnsemblClinVar.1
Natural variantiVAR_07664376D → G in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312821EnsemblClinVar.1
Natural variantiVAR_07664577G → S in MRD42. 1 PublicationCorresponds to variant dbSNP:rs758432471EnsemblClinVar.1
Natural variantiVAR_07664678K → R in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312823EnsemblClinVar.1
Natural variantiVAR_07664780I → N in MRD42; also found in patients with acute lymphoblastic T-cell leukemia; reduces interaction with GNAI2, GNAI3, GNA13 and GNA11; induces activation of PI3K-AKT-mTOR and MAPK pathways. 2 PublicationsCorresponds to variant dbSNP:rs752746786EnsemblClinVar.1
Natural variantiVAR_07664880I → T in MRD42; also found in patient with hematologic malignancies; reduces interaction with GNAI2, GNAI3, GNA13 and GNA11; induces activation of PI3K-AKT-mTOR and MAPK pathways. 2 PublicationsCorresponds to variant dbSNP:rs752746786EnsemblClinVar.1
Natural variantiVAR_07828291H → R in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with apha and gamma subunits; no effect on receptor-driven G protein activation. 1 Publication1
Natural variantiVAR_07828392A → T in MRD42; decreases receptor-driven G protein activation; increases trimer formation with alpha and gamma subunits; no effect on protein abundance; no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_07828494P → S in MRD42; decreases receptor-driven G protein activation; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance;no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_07664995L → P in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312824EnsemblClinVar.1
Natural variantiVAR_07828596R → L in MRD42; decreases receptor-driven G protein activation; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance; no effect on complex formation with gamma subunit. 1 Publication1
Natural variantiVAR_076650101M → V in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312825EnsemblClinVar.1
Natural variantiVAR_078286106A → T in MRD42; decreases receptor-driven G protein activation; decreases complex formation with gamma subunit; decreases trimer formation with alpha and gamma subunit; no effect on protein abundance. 1 Publication1
Natural variantiVAR_078287118D → G in MRD42; decreases receptor-driven G protein activation; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits. 2 PublicationsCorresponds to variant dbSNP:rs1553194162EnsemblClinVar.1
Natural variantiVAR_076651326A → T in MRD42. 1 PublicationCorresponds to variant dbSNP:rs869312826EnsemblClinVar.1
Natural variantiVAR_078288337K → Q in MRD42; unknown pathological significance; no effect on protein abundance; no effect on complex formation with gamma subunit; no effect on trimer formation with alpha and gamma subunits; no effect on receptor-driven G protein activation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_055232329 – 340TGSWD…LKIWN → SVLG in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X04526 mRNA Translation: CAA28207.1
AF501882 mRNA Translation: AAM15918.1
BT007305 mRNA Translation: AAP35969.1
CR456784 mRNA Translation: CAG33065.1
AL031282 Genomic DNA No translation available.
AL109917 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56147.1
BC004186 mRNA Translation: AAH04186.1
BC005888 mRNA Translation: AAH05888.1
BC008991 mRNA Translation: AAH08991.1
BC114618 mRNA Translation: AAI14619.1
M36430 mRNA Translation: AAA63265.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34.1 [P62873-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A24853 RGHUB1

NCBI Reference Sequences

More...
RefSeqi
NP_001269467.1, NM_001282538.1
NP_001269468.1, NM_001282539.1 [P62873-1]
NP_002065.1, NM_002074.4 [P62873-1]
XP_016856548.1, XM_017001059.1 [P62873-1]
XP_016856549.1, XM_017001060.1 [P62873-1]
XP_016856550.1, XM_017001061.1 [P62873-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378609; ENSP00000367872; ENSG00000078369 [P62873-1]
ENST00000610897; ENSP00000481878; ENSG00000078369 [P62873-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2782

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2782

UCSC genome browser

More...
UCSCi
uc001aif.5 human [P62873-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04526 mRNA Translation: CAA28207.1
AF501882 mRNA Translation: AAM15918.1
BT007305 mRNA Translation: AAP35969.1
CR456784 mRNA Translation: CAG33065.1
AL031282 Genomic DNA No translation available.
AL109917 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56147.1
BC004186 mRNA Translation: AAH04186.1
BC005888 mRNA Translation: AAH05888.1
BC008991 mRNA Translation: AAH08991.1
BC114618 mRNA Translation: AAI14619.1
M36430 mRNA Translation: AAA63265.1
CCDSiCCDS34.1 [P62873-1]
PIRiA24853 RGHUB1
RefSeqiNP_001269467.1, NM_001282538.1
NP_001269468.1, NM_001282539.1 [P62873-1]
NP_002065.1, NM_002074.4 [P62873-1]
XP_016856548.1, XM_017001059.1 [P62873-1]
XP_016856549.1, XM_017001060.1 [P62873-1]
XP_016856550.1, XM_017001061.1 [P62873-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4KFMX-ray3.45B1-340[»]
4PNKX-ray2.56B1-340[»]
5HE0X-ray2.56B2-340[»]
5HE1X-ray3.15B2-340[»]
5HE2X-ray2.79B2-340[»]
5HE3X-ray2.74B2-340[»]
5UKKX-ray2.60B2-340[»]
5UKLX-ray2.15B2-340[»]
5UKMX-ray3.03B2-340[»]
5UZ7electron microscopy4.10B2-340[»]
6B3Jelectron microscopy3.30B2-340[»]
6CRKX-ray2.00B2-340[»]
6D9Helectron microscopy3.60B2-340[»]
6DDEelectron microscopy3.50B2-340[»]
6DDFelectron microscopy3.50B2-340[»]
6E3Yelectron microscopy3.30B2-340[»]
6EG8X-ray2.80A/B/D/F2-340[»]
6G79electron microscopy3.78B2-340[»]
6GDGelectron microscopy4.11B2-340[»]
6M8SX-ray3.71C/D/G/H/K2-340[»]
6N4Belectron microscopy3.00B2-340[»]
6NIYelectron microscopy3.34B1-340[»]
6OIJelectron microscopy3.30B2-340[»]
6OIKelectron microscopy3.60B2-340[»]
6OS9electron microscopy3.00B2-340[»]
6OSAelectron microscopy3.00B2-340[»]
6OT0electron microscopy3.90B2-340[»]
SMRiP62873
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109044, 127 interactors
CORUMiP62873
DIPiDIP-599N
IntActiP62873, 65 interactors
MINTiP62873
STRINGi9606.ENSP00000481878

Chemistry databases

ChEMBLiCHEMBL3883319

Protein family/group databases

TCDBi8.A.92.1.1 the g-protein AlphaBetaGama complex (gpc) family

PTM databases

iPTMnetiP62873
PhosphoSitePlusiP62873
SwissPalmiP62873

Polymorphism and mutation databases

BioMutaiGNB1
DMDMi51317302

2D gel databases

OGPiP62873
REPRODUCTION-2DPAGEiIPI00026268

Proteomic databases

EPDiP62873
jPOSTiP62873
MassIVEiP62873
MaxQBiP62873
PaxDbiP62873
PeptideAtlasiP62873
PRIDEiP62873
ProteomicsDBi57441 [P62873-1]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
P62873

The DNASU plasmid repository

More...
DNASUi
2782
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378609; ENSP00000367872; ENSG00000078369 [P62873-1]
ENST00000610897; ENSP00000481878; ENSG00000078369 [P62873-1]
GeneIDi2782
KEGGihsa:2782
UCSCiuc001aif.5 human [P62873-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2782
DisGeNETi2782

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GNB1
HGNCiHGNC:4396 GNB1
HPAiHPA040736
MalaCardsiGNB1
MIMi139380 gene
616973 phenotype
neXtProtiNX_P62873
OpenTargetsiENSG00000078369
Orphaneti488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
PharmGKBiPA28776

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0286 Eukaryota
ENOG410XQUX LUCA
GeneTreeiENSGT00950000182737
HOGENOMiHOG000176356
InParanoidiP62873
KOiK04536
OMAiTCNVWDT
OrthoDBi704786at2759
PhylomeDBiP62873
TreeFamiTF106149

Enzyme and pathway databases

ReactomeiR-HSA-1296041 Activation of G protein gated Potassium channels
R-HSA-163359 Glucagon signaling in metabolic regulation
R-HSA-202040 G-protein activation
R-HSA-2485179 Activation of the phototransduction cascade
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-381753 Olfactory Signaling Pathway
R-HSA-392170 ADP signalling through P2Y purinoceptor 12
R-HSA-392451 G beta:gamma signalling through PI3Kgamma
R-HSA-392851 Prostacyclin signalling through prostacyclin receptor
R-HSA-400042 Adrenaline,noradrenaline inhibits insulin secretion
R-HSA-4086398 Ca2+ pathway
R-HSA-416476 G alpha (q) signalling events
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-418217 G beta:gamma signalling through PLC beta
R-HSA-418555 G alpha (s) signalling events
R-HSA-418592 ADP signalling through P2Y purinoceptor 1
R-HSA-418594 G alpha (i) signalling events
R-HSA-418597 G alpha (z) signalling events
R-HSA-420092 Glucagon-type ligand receptors
R-HSA-428930 Thromboxane signalling through TP receptor
R-HSA-432040 Vasopressin regulates renal water homeostasis via Aquaporins
R-HSA-456926 Thrombin signalling through proteinase activated receptors (PARs)
R-HSA-500657 Presynaptic function of Kainate receptors
R-HSA-6814122 Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
R-HSA-8964315 G beta:gamma signalling through BTK
R-HSA-8964616 G beta:gamma signalling through CDC42
R-HSA-9009391 Extra-nuclear estrogen signaling
R-HSA-997272 Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
SignaLinkiP62873
SIGNORiP62873

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GNB1 human
EvolutionaryTraceiP62873

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GNB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2782

Pharos

More...
Pharosi
P62873

Protein Ontology

More...
PROi
PR:P62873

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000078369 Expressed in 239 organ(s), highest expression level in putamen
ExpressionAtlasiP62873 baseline and differential
GenevisibleiP62873 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR001632 Gprotein_B
IPR016346 Guanine_nucleotide-bd_bsu
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PANTHERiPTHR19850 PTHR19850, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 7 hits
PRINTSiPR00319 GPROTEINB
PR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 3 hits
PS50082 WD_REPEATS_2, 6 hits
PS50294 WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBB1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P62873
Secondary accession number(s): B1AJZ7
, P04697, P04901, Q1RMY8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 23, 2007
Last modified: September 18, 2019
This is version 173 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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