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Entry version 161 (18 Sep 2019)
Sequence version 2 (11 Jul 2002)
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Protein

Transcription factor MafB

Gene

MAFB

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

Acts as a transcriptional activator or repressor (PubMed:27181683). Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.By similarity2 Publications

<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 functionActivator, DNA-binding, Repressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y5Q3

<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:
Transcription factor MafB
Short name:
Maf-B
Alternative name(s):
V-maf musculoaponeurotic fibrosarcoma oncogene homolog B
<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:MAFB
Synonyms:KRML
<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 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:6408 MAFB

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608968 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y5Q3

<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

Nucleus

<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

Multicentric carpotarsal osteolysis syndrome (MCTO)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients.
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_06797954S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs730880014EnsemblClinVar.1
Natural variantiVAR_06798059P → L in MCTO. 1 Publication1
Natural variantiVAR_06798162T → P in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907004EnsemblClinVar.1
Natural variantiVAR_06798263P → R in MCTO. 1 Publication1
Natural variantiVAR_06798366S → C in MCTO. 1 Publication1
Natural variantiVAR_06798469S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs1555826433EnsemblClinVar.1
Natural variantiVAR_06798570S → A in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907005EnsemblClinVar.1
Natural variantiVAR_06798670S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907006EnsemblClinVar.1
Natural variantiVAR_06798771P → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907008EnsemblClinVar.1
Natural variantiVAR_06798871P → S in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907007EnsemblClinVar.1
Duane retraction syndrome 3 with or without deafness (DURS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Duane retraction syndrome, a congenital eye movement disorder characterized by a failure of cranial nerve VI (the abducens nerve) to develop normally, resulting in restriction or absence of abduction, adduction or both, narrowing of the palpebral fissure, and retraction of the globe on attempted adduction. Undiagnosed in children, it can lead to amblyopia, a permanent uncorrectable loss of vision. Some DURS3 patients manifest sensorineural hearing loss.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Proto-oncogene, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
9935

MalaCards human disease database

More...
MalaCardsi
MAFB
MIMi166300 phenotype
617041 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000204103

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

More...
Orphaneti
233 Duane retraction syndrome
529574 Duane retraction syndrome with congenital deafness
2774 Multicentric carpo-tarsal osteolysis with or without nephropathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30535

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAFB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21759268

<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_00000764941 – 323Transcription factor MafBAdd BLAST323

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki32Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Cross-linki297Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity

<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 by GSK3 and MAPK13 on serine and threonine residues.2 Publications
Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).By similarity

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9Y5Q3

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y5Q3

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y5Q3

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

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PaxDbi
Q9Y5Q3

PeptideAtlas

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PeptideAtlasi
Q9Y5Q3

PRoteomics IDEntifications database

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PRIDEi
Q9Y5Q3

ProteomicsDB human proteome resource

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ProteomicsDBi
86471

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y5Q3

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

More...
PhosphoSitePlusi
Q9Y5Q3

<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

Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000204103 Expressed in 223 organ(s), highest expression level in vagina

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y5Q3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005653

<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 other bHLH-Zip transcription factors. Binds DNA as a homodimer or a heterodimer. Forms homodimers and heterodimers with FOS, FOSB and FOSL2, but not with JUN proteins (JUN, JUNB and JUND).

Interacts with PAX6; the interaction is direct.

Interacts with ETS1 and LRP1 (By similarity).

Interacts with the intracellular cytoplasmic domain of LRP1 (LRPICD); the interaction results in a moderate reduction of MAFB transcriptional potential.

By similarity1 Publication

<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
115261, 21 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q9Y5Q3

Protein interaction database and analysis system

More...
IntActi
Q9Y5Q3, 13 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000362410

<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

3D structure databases

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

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SMRi
Q9Y5Q3

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Domaini238 – 301bZIPPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni238 – 263Basic motifPROSITE-ProRule annotationAdd BLAST26
Regioni266 – 287Leucine-zipperPROSITE-ProRule annotationAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi131 – 143Poly-HisAdd BLAST13
Compositional biasi158 – 167Poly-His10

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The leucine-zipper domain is involved in the interaction with LRPICD.

<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 bZIP family. Maf subfamily.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4196 Eukaryota
ENOG41102C7 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160486

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000261683

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y5Q3

KEGG Orthology (KO)

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KOi
K09036

Identification of Orthologs from Complete Genome Data

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OMAi
DLYWMAN

Database of Orthologous Groups

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OrthoDBi
754573at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y5Q3

TreeFam database of animal gene trees

More...
TreeFami
TF325689

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028571 MafB
IPR008917 TF_DNA-bd_sf
IPR024874 Transcription_factor_Maf_fam

The PANTHER Classification System

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PANTHERi
PTHR10129 PTHR10129, 1 hit
PTHR10129:SF10 PTHR10129:SF10, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00338 BRLZ, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47454 SSF47454, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50217 BZIP, 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>Sequencei

<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.

Q9Y5Q3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAELSMGPE LPTSPLAMEY VNDFDLLKFD VKKEPLGRAE RPGRPCTRLQ
60 70 80 90 100
PAGSVSSTPL STPCSSVPSS PSFSPTEQKT HLEDLYWMAS NYQQMNPEAL
110 120 130 140 150
NLTPEDAVEA LIGSHPVPQP LQSFDSFRGA HHHHHHHHPH PHHAYPGAGV
160 170 180 190 200
AHDELGPHAH PHHHHHHQAS PPPSSAASPA QQLPTSHPGP GPHATASATA
210 220 230 240 250
AGGNGSVEDR FSDDQLVSMS VRELNRHLRG FTKDEVIRLK QKRRTLKNRG
260 270 280 290 300
YAQSCRYKRV QQKHHLENEK TQLIQQVEQL KQEVSRLARE RDAYKVKCEK
310 320
LANSGFREAG STSDSPSSPE FFL
Length:323
Mass (Da):35,792
Last modified:July 11, 2002 - v2
<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:iA0F3C09F8936CB16
GO

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 conflicti52A → V in AAD30106 (PubMed:10444328).Curated1
Sequence conflicti241Q → H in AAD30106 (PubMed:10444328).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06797954S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs730880014EnsemblClinVar.1
Natural variantiVAR_06798059P → L in MCTO. 1 Publication1
Natural variantiVAR_06798162T → P in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907004EnsemblClinVar.1
Natural variantiVAR_06798263P → R in MCTO. 1 Publication1
Natural variantiVAR_06798366S → C in MCTO. 1 Publication1
Natural variantiVAR_06798469S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs1555826433EnsemblClinVar.1
Natural variantiVAR_06798570S → A in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907005EnsemblClinVar.1
Natural variantiVAR_06798670S → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907006EnsemblClinVar.1
Natural variantiVAR_06798771P → L in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907008EnsemblClinVar.1
Natural variantiVAR_06798871P → S in MCTO. 1 PublicationCorresponds to variant dbSNP:rs387907007EnsemblClinVar.1

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

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DDBJi
Links Updated
AF134157 mRNA Translation: AAD30106.1
AK027324 mRNA Translation: BAG51303.1
AL035665 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76000.1
BC028098 mRNA Translation: AAH28098.1
BC036689 mRNA Translation: AAH36689.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS13311.1

NCBI Reference Sequences

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RefSeqi
NP_005452.2, NM_005461.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000373313; ENSP00000362410; ENSG00000204103

Database of genes from NCBI RefSeq genomes

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GeneIDi
9935

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9935

UCSC genome browser

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UCSCi
uc002xji.4 human

<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
AF134157 mRNA Translation: AAD30106.1
AK027324 mRNA Translation: BAG51303.1
AL035665 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW76000.1
BC028098 mRNA Translation: AAH28098.1
BC036689 mRNA Translation: AAH36689.1
CCDSiCCDS13311.1
RefSeqiNP_005452.2, NM_005461.4

3D structure databases

SMRiQ9Y5Q3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi115261, 21 interactors
ELMiQ9Y5Q3
IntActiQ9Y5Q3, 13 interactors
STRINGi9606.ENSP00000362410

PTM databases

iPTMnetiQ9Y5Q3
PhosphoSitePlusiQ9Y5Q3

Polymorphism and mutation databases

BioMutaiMAFB
DMDMi21759268

Proteomic databases

EPDiQ9Y5Q3
jPOSTiQ9Y5Q3
MassIVEiQ9Y5Q3
PaxDbiQ9Y5Q3
PeptideAtlasiQ9Y5Q3
PRIDEiQ9Y5Q3
ProteomicsDBi86471

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373313; ENSP00000362410; ENSG00000204103
GeneIDi9935
KEGGihsa:9935
UCSCiuc002xji.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9935
DisGeNETi9935

GeneCards: human genes, protein and diseases

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GeneCardsi
MAFB
HGNCiHGNC:6408 MAFB
HPAiHPA005653
MalaCardsiMAFB
MIMi166300 phenotype
608968 gene
617041 phenotype
neXtProtiNX_Q9Y5Q3
OpenTargetsiENSG00000204103
Orphaneti233 Duane retraction syndrome
529574 Duane retraction syndrome with congenital deafness
2774 Multicentric carpo-tarsal osteolysis with or without nephropathy
PharmGKBiPA30535

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG4196 Eukaryota
ENOG41102C7 LUCA
GeneTreeiENSGT00940000160486
HOGENOMiHOG000261683
InParanoidiQ9Y5Q3
KOiK09036
OMAiDLYWMAN
OrthoDBi754573at2759
PhylomeDBiQ9Y5Q3
TreeFamiTF325689

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SIGNORiQ9Y5Q3

Miscellaneous databases

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

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ChiTaRSi
MAFB human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MAFB_(gene)

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

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GenomeRNAii
9935

Pharos

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Pharosi
Q9Y5Q3

Protein Ontology

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PROi
PR:Q9Y5Q3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000204103 Expressed in 223 organ(s), highest expression level in vagina
GenevisibleiQ9Y5Q3 HS

Family and domain databases

InterProiView protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028571 MafB
IPR008917 TF_DNA-bd_sf
IPR024874 Transcription_factor_Maf_fam
PANTHERiPTHR10129 PTHR10129, 1 hit
PTHR10129:SF10 PTHR10129:SF10, 1 hit
PfamiView protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit
SMARTiView protein in SMART
SM00338 BRLZ, 1 hit
SUPFAMiSSF47454 SSF47454, 1 hit
PROSITEiView protein in PROSITE
PS50217 BZIP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiMAFB_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: Q9Y5Q3
Secondary accession number(s): B3KNE1, Q9H1F1
<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: July 11, 2002
Last sequence update: July 11, 2002
Last modified: September 18, 2019
This is version 161 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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