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Entry version 203 (03 Jul 2019)
Sequence version 1 (01 Jan 1998)
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Protein

E3 ubiquitin-protein ligase Midline-1

Gene

MID1

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

Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.3 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine. EC:2.3.2.27

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi119Zinc 11
Metal bindingi122Zinc 11
Metal bindingi134Zinc 21
Metal bindingi137Zinc 21
Metal bindingi142Zinc 11
Metal bindingi145Zinc 11
Metal bindingi150Zinc 21
Metal bindingi159Zinc 21

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri10 – 60RING-typePROSITE-ProRule annotationAdd BLAST51
Zinc fingeri116 – 165B box-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri172 – 212B box-type 2PROSITE-ProRule annotationAdd BLAST41

<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 functionTransferase
Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-877300 Interferon gamma signaling

<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:
E3 ubiquitin-protein ligase Midline-1 (EC:2.3.2.27)
Alternative name(s):
Midin
Putative transcription factor XPRF
RING finger protein 59
RING finger protein Midline-1
RING-type E3 ubiquitin transferase Midline-1Curated
Tripartite motif-containing protein 18
<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:MID1
Synonyms:FXY, RNF59, TRIM18, XPRF
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7095 MID1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300552 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O15344

<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

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

<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

Opitz GBBB syndrome 1 (GBBB1)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules.
Disease descriptionA congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
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_013758266C → R in GBBB1. 1 Publication1
Natural variantiVAR_025495295L → P in GBBB1. 1 PublicationCorresponds to variant dbSNP:rs104894866EnsemblClinVar.1
Natural variantiVAR_025496391 – 392LC → R in GBBB1. 1 Publication2
Natural variantiVAR_013759438Missing in GBBB1. 1 Publication1
Natural variantiVAR_013760534V → VFIDSGRHL in GBBB1. 1
Natural variantiVAR_013761536I → T in GBBB1. 1 Publication1
Natural variantiVAR_013762626L → P in GBBB1. 1 PublicationCorresponds to variant dbSNP:rs28934611EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4281

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MID1

MalaCards human disease database

More...
MalaCardsi
MID1
MIMi300000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000101871

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

More...
Orphaneti
306597 X-linked Opitz G/BBB syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30816

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MID1

<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 ‘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_00000562271 – 667E3 ubiquitin-protein ligase Midline-1Add BLAST667

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 residuei92PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1
Modified residuei511PhosphoserineCombined sources1

<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

Phosphorylated on serine and threonine residues.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O15344

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O15344

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O15344

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

More...
PaxDbi
O15344

PeptideAtlas

More...
PeptideAtlasi
O15344

PRoteomics IDEntifications database

More...
PRIDEi
O15344

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48594
48595 [O15344-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O15344

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

More...
PhosphoSitePlusi
O15344

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

A retroviral element acts as an alternative tissue-specific promoter for this gene. The LTR of an HERV-E element enhances the expression in placenta and embryonic kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000101871 Expressed in 231 organ(s), highest expression level in hair follicle

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O15344 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O15344 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003715

<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

Homodimer or heterodimer with MID2.

Interacts with IGBP1.

Interacts with TRIM16.

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)

More...
BioGridi
110427, 87 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
O15344

Protein interaction database and analysis system

More...
IntActi
O15344, 41 interactors

Molecular INTeraction database

More...
MINTi
O15344

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312678

<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

1667
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
O15344

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O15344

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini320 – 379COSPROSITE-ProRule annotationAdd BLAST60
Domaini381 – 484Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST104
Domaini482 – 659B30.2/SPRYPROSITE-ProRule annotationAdd BLAST178

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili205 – 264Sequence analysisAdd BLAST60

<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 TRIM/RBCC family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri10 – 60RING-typePROSITE-ProRule annotationAdd BLAST51
Zinc fingeri116 – 165B box-type 1PROSITE-ProRule annotationAdd BLAST50
Zinc fingeri172 – 212B box-type 2PROSITE-ProRule annotationAdd BLAST41

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ITFU Eukaryota
ENOG410Z43Q LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155821

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000049193

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O15344

KEGG Orthology (KO)

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KOi
K08285

Identification of Orthologs from Complete Genome Data

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OMAi
CRCHNNW

Database of Orthologous Groups

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OrthoDBi
207616at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O15344

TreeFam database of animal gene trees

More...
TreeFami
TF333654

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00021 BBOX, 1 hit
cd00063 FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 1 hit
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001870 B30.2/SPRY
IPR003649 Bbox_C
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR017903 COS_domain
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR027727 MID1
IPR040859 Midline-1_COS
IPR006574 PRY
IPR003877 SPRY_dom
IPR027370 Znf-RING_LisH
IPR000315 Znf_B-box
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

The PANTHER Classification System

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PANTHERi
PTHR24099:SF23 PTHR24099:SF23, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18568 COS, 1 hit
PF00041 fn3, 1 hit
PF13765 PRY, 1 hit
PF00622 SPRY, 1 hit
PF00643 zf-B_box, 1 hit
PF13445 zf-RING_UBOX, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01407 BUTYPHLNCDUF

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00502 BBC, 1 hit
SM00336 BBOX, 2 hits
SM00060 FN3, 1 hit
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49265 SSF49265, 1 hit
SSF49899 SSF49899, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS51262 COS, 1 hit
PS50853 FN3, 1 hit
PS50119 ZF_BBOX, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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.

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: O15344-1) [UniParc]FASTAAdd to basket
Also known as: Alpha

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
METLESELTC PICLELFEDP LLLPCAHSLC FNCAHRILVS HCATNESVES
60 70 80 90 100
ITAFQCPTCR HVITLSQRGL DGLKRNVTLQ NIIDRFQKAS VSGPNSPSET
110 120 130 140 150
RRERAFDANT MTSAEKVLCQ FCDQDPAQDA VKTCVTCEVS YCDECLKATH
160 170 180 190 200
PNKKPFTGHR LIEPIPDSHI RGLMCLEHED EKVNMYCVTD DQLICALCKL
210 220 230 240 250
VGRHRDHQVA ALSERYDKLK QNLESNLTNL IKRNTELETL LAKLIQTCQH
260 270 280 290 300
VEVNASRQEA KLTEECDLLI EIIQQRRQII GTKIKEGKVM RLRKLAQQIA
310 320 330 340 350
NCKQCIERSA SLISQAEHSL KENDHARFLQ TAKNITERVS MATASSQVLI
360 370 380 390 400
PEINLNDTFD TFALDFSREK KLLECLDYLT APNPPTIREE LCTASYDTIT
410 420 430 440 450
VHWTSDDEFS VVSYELQYTI FTGQANVVSL CNSADSWMIV PNIKQNHYTV
460 470 480 490 500
HGLQSGTKYI FMVKAINQAG SRSSEPGKLK TNSQPFKLDP KSAHRKLKVS
510 520 530 540 550
HDNLTVERDE SSSKKSHTPE RFTSQGSYGV AGNVFIDSGR HYWEVVISGS
560 570 580 590 600
TWYAIGLAYK SAPKHEWIGK NSASWALCRC NNNWVVRHNS KEIPIEPAPH
610 620 630 640 650
LRRVGILLDY DNGSIAFYDA LNSIHLYTFD VAFAQPVCPT FTVWNKCLTI
660
ITGLPIPDHL DCTEQLP
Length:667
Mass (Da):75,251
Last modified:January 1, 1998 - v1
<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:i673C5120018BA619
GO
Isoform 2 (identifier: O15344-2) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     553-667: Missing.

Show »
Length:552
Mass (Da):62,288
Checksum:iFD4D4C0EA5915DB2
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
A0A087X255A0A087X255_HUMAN
E3 ubiquitin-protein ligase Midline...
MID1
540Annotation 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>
A0A087X0X0A0A087X0X0_HUMAN
E3 ubiquitin-protein ligase Midline...
MID1
228Annotation 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>
C9J453C9J453_HUMAN
E3 ubiquitin-protein ligase Midline...
MID1
483Annotation 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>
C9JZJ7C9JZJ7_HUMAN
E3 ubiquitin-protein ligase Midline...
MID1
197Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti228T → P in AAC32999 (PubMed:9722948).Curated1
Sequence conflicti484Q → P in AAC32998 (PubMed:9722948).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013758266C → R in GBBB1. 1 Publication1
Natural variantiVAR_025495295L → P in GBBB1. 1 PublicationCorresponds to variant dbSNP:rs104894866EnsemblClinVar.1
Natural variantiVAR_025496391 – 392LC → R in GBBB1. 1 Publication2
Natural variantiVAR_013759438Missing in GBBB1. 1 Publication1
Natural variantiVAR_013760534V → VFIDSGRHL in GBBB1. 1
Natural variantiVAR_013761536I → T in GBBB1. 1 Publication1
Natural variantiVAR_013762626L → P in GBBB1. 1 PublicationCorresponds to variant dbSNP:rs28934611EnsemblClinVar.1

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_005735553 – 667Missing in isoform 2. 2 PublicationsAdd BLAST115

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y13667 mRNA Translation: CAA74018.1
AF035360 mRNA Translation: AAB99951.1
AF041206 mRNA Translation: AAC32998.1
AF041207 mRNA Translation: AAC32999.1
AF041208 mRNA Translation: AAC33000.1
AF041209 mRNA Translation: AAC33001.1
AF041210 mRNA Translation: AAC33002.1
AF230976 mRNA Translation: AAG50191.1
AF230977 mRNA Translation: AAG50192.1
AF269101 mRNA Translation: AAG33130.1
AK315095 mRNA Translation: BAG37559.1
CH471074 Genomic DNA Translation: EAW98780.1
BC053626 mRNA Translation: AAH53626.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14138.1 [O15344-1]

Protein sequence database of the Protein Information Resource

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PIRi
T09482

NCBI Reference Sequences

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RefSeqi
NP_000372.1, NM_000381.3 [O15344-1]
NP_001092094.1, NM_001098624.2 [O15344-1]
NP_001180206.1, NM_001193277.1 [O15344-1]
NP_001180207.1, NM_001193278.1
NP_001180208.1, NM_001193279.1
NP_001180209.1, NM_001193280.1
NP_001180210.1, NM_001193281.1
NP_001334662.1, NM_001347733.1 [O15344-1]
NP_150632.1, NM_033290.3 [O15344-1]
XP_016885025.1, XM_017029536.1
XP_016885029.1, XM_017029540.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000317552; ENSP00000312678; ENSG00000101871 [O15344-1]
ENST00000380779; ENSP00000370156; ENSG00000101871 [O15344-1]
ENST00000380780; ENSP00000370157; ENSG00000101871 [O15344-1]
ENST00000380782; ENSP00000370159; ENSG00000101871 [O15344-2]
ENST00000380785; ENSP00000370162; ENSG00000101871 [O15344-1]
ENST00000380787; ENSP00000370164; ENSG00000101871 [O15344-1]
ENST00000453318; ENSP00000414521; ENSG00000101871 [O15344-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4281

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4281

UCSC genome browser

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UCSCi
uc004cte.5 human [O15344-1]

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
Y13667 mRNA Translation: CAA74018.1
AF035360 mRNA Translation: AAB99951.1
AF041206 mRNA Translation: AAC32998.1
AF041207 mRNA Translation: AAC32999.1
AF041208 mRNA Translation: AAC33000.1
AF041209 mRNA Translation: AAC33001.1
AF041210 mRNA Translation: AAC33002.1
AF230976 mRNA Translation: AAG50191.1
AF230977 mRNA Translation: AAG50192.1
AF269101 mRNA Translation: AAG33130.1
AK315095 mRNA Translation: BAG37559.1
CH471074 Genomic DNA Translation: EAW98780.1
BC053626 mRNA Translation: AAH53626.1
CCDSiCCDS14138.1 [O15344-1]
PIRiT09482
RefSeqiNP_000372.1, NM_000381.3 [O15344-1]
NP_001092094.1, NM_001098624.2 [O15344-1]
NP_001180206.1, NM_001193277.1 [O15344-1]
NP_001180207.1, NM_001193278.1
NP_001180208.1, NM_001193279.1
NP_001180209.1, NM_001193280.1
NP_001180210.1, NM_001193281.1
NP_001334662.1, NM_001347733.1 [O15344-1]
NP_150632.1, NM_033290.3 [O15344-1]
XP_016885025.1, XM_017029536.1
XP_016885029.1, XM_017029540.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DQ5NMR-A168-214[»]
2FFWNMR-A87-164[»]
2JUNNMR-A114-214[»]
5IM8NMR-A320-379[»]
SMRiO15344
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110427, 87 interactors
CORUMiO15344
IntActiO15344, 41 interactors
MINTiO15344
STRINGi9606.ENSP00000312678

PTM databases

iPTMnetiO15344
PhosphoSitePlusiO15344

Polymorphism and mutation databases

BioMutaiMID1

Proteomic databases

EPDiO15344
jPOSTiO15344
MaxQBiO15344
PaxDbiO15344
PeptideAtlasiO15344
PRIDEiO15344
ProteomicsDBi48594
48595 [O15344-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4281
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317552; ENSP00000312678; ENSG00000101871 [O15344-1]
ENST00000380779; ENSP00000370156; ENSG00000101871 [O15344-1]
ENST00000380780; ENSP00000370157; ENSG00000101871 [O15344-1]
ENST00000380782; ENSP00000370159; ENSG00000101871 [O15344-2]
ENST00000380785; ENSP00000370162; ENSG00000101871 [O15344-1]
ENST00000380787; ENSP00000370164; ENSG00000101871 [O15344-1]
ENST00000453318; ENSP00000414521; ENSG00000101871 [O15344-1]
GeneIDi4281
KEGGihsa:4281
UCSCiuc004cte.5 human [O15344-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4281
DisGeNETi4281

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MID1
GeneReviewsiMID1
HGNCiHGNC:7095 MID1
HPAiHPA003715
MalaCardsiMID1
MIMi300000 phenotype
300552 gene
neXtProtiNX_O15344
OpenTargetsiENSG00000101871
Orphaneti306597 X-linked Opitz G/BBB syndrome
PharmGKBiPA30816

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410ITFU Eukaryota
ENOG410Z43Q LUCA
GeneTreeiENSGT00940000155821
HOGENOMiHOG000049193
InParanoidiO15344
KOiK08285
OMAiCRCHNNW
OrthoDBi207616at2759
PhylomeDBiO15344
TreeFamiTF333654

Enzyme and pathway databases

ReactomeiR-HSA-877300 Interferon gamma signaling

Miscellaneous databases

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

More...
ChiTaRSi
MID1 human
EvolutionaryTraceiO15344

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MID1

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

More...
GenomeRNAii
4281

Protein Ontology

More...
PROi
PR:O15344

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000101871 Expressed in 231 organ(s), highest expression level in hair follicle
ExpressionAtlasiO15344 baseline and differential
GenevisibleiO15344 HS

Family and domain databases

CDDicd00021 BBOX, 1 hit
cd00063 FN3, 1 hit
Gene3Di2.60.40.10, 1 hit
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR001870 B30.2/SPRY
IPR003649 Bbox_C
IPR003879 Butyrophylin_SPRY
IPR013320 ConA-like_dom_sf
IPR017903 COS_domain
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR027727 MID1
IPR040859 Midline-1_COS
IPR006574 PRY
IPR003877 SPRY_dom
IPR027370 Znf-RING_LisH
IPR000315 Znf_B-box
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PANTHERiPTHR24099:SF23 PTHR24099:SF23, 1 hit
PfamiView protein in Pfam
PF18568 COS, 1 hit
PF00041 fn3, 1 hit
PF13765 PRY, 1 hit
PF00622 SPRY, 1 hit
PF00643 zf-B_box, 1 hit
PF13445 zf-RING_UBOX, 1 hit
PRINTSiPR01407 BUTYPHLNCDUF
SMARTiView protein in SMART
SM00502 BBC, 1 hit
SM00336 BBOX, 2 hits
SM00060 FN3, 1 hit
SM00184 RING, 1 hit
SM00449 SPRY, 1 hit
SUPFAMiSSF49265 SSF49265, 1 hit
SSF49899 SSF49899, 1 hit
PROSITEiView protein in PROSITE
PS50188 B302_SPRY, 1 hit
PS51262 COS, 1 hit
PS50853 FN3, 1 hit
PS50119 ZF_BBOX, 1 hit
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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 nameiTRI18_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: O15344
Secondary accession number(s): B2RCG2, O75361, Q9BZX5
<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 30, 2002
Last sequence update: January 1, 1998
Last modified: July 3, 2019
This is version 203 of the entry and version 1 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, 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 X
    Human chromosome X: 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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