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UniProtKB - O75444 (MAF_HUMAN)

Entry version 177 (07 Apr 2021)
Sequence version 2 (10 Feb 2009)
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Protein

Transcription factor Maf

Gene

MAF

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. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.By similarity5 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75444

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-8940973, RUNX2 regulates osteoblast differentiation

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

More...SignaLinki		O75444

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75444

<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%5Fand%5Ftaxonomy%5Fsection">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 Maf
Alternative name(s):
Proto-oncogene c-Maf
V-maf musculoaponeurotic fibrosarcoma oncogene homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:MAF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6776, MAF

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		177075, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75444

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000178573.6

<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

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

A chromosomal aberration involving MAF is found in some forms of multiple myeloma (MM). Translocation t(14;16)(q32.3;q23) with an IgH locus.
Cataract 21, multiple types (CTRCT21)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
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_029369288R → P in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917735EnsemblClinVar.1
Natural variantiVAR_029370297K → R in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917736EnsemblClinVar.1
Natural variantiVAR_073898303Q → L in CTRCT21. 1 Publication1
Ayme-Gripp syndrome (AYGRP)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07389154S → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502766EnsemblClinVar.1
Natural variantiVAR_07389258T → A in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502767EnsemblClinVar.1
Natural variantiVAR_07389358T → I in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502769EnsemblClinVar.1
Natural variantiVAR_07389459P → H in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar.1
Natural variantiVAR_07389559P → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar.1
Natural variantiVAR_07389662T → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502771EnsemblClinVar.1
Natural variantiVAR_07389769P → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502768EnsemblClinVar.1

Keywords - Diseasei

Cataract, Deafness, Disease variant, Dwarfism, Mental retardation, Proto-oncogene, Tumor suppressor

Organism-specific databases

DisGeNET

More...DisGeNETi		4094

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

More...GeneReviewsi		MAF

MalaCards human disease database

More...MalaCardsi		MAF
MIMi601088, phenotype
610202, phenotype

NIAGADS Genomics Database

More...NIAGADSi		ENSG00000178573

Open Targets

More...OpenTargetsi		ENSG00000178573

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

More...Orphaneti		1272, Ayme-Gripp syndrome
1377, Cataract-microcornea syndrome
98989, Cerulean cataract
98984, Pulverulent cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30534

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75444, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAF

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000764911 – 373Transcription factor MafAdd BLAST373

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki29Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki33Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki331Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Isoform 1 (identifier: O75444-1)
Cross-linki379Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is triggered by glucocorticoids.1 Publication
Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable). The phosphorylation status can serve to either stimulate or inhibit transcription.Curated2 Publications

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75444

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

More...PaxDbi		O75444

PeptideAtlas

More...PeptideAtlasi		O75444

PRoteomics IDEntifications database

More...PRIDEi		O75444

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50009 [O75444-2]
50010 [O75444-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75444

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

More...PhosphoSitePlusi		O75444

<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

Expressed in endothelial cells.1 Publication

<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

Up-regulated with tert-butyl hydroquinone (t-BHQ).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000178573, Expressed in jejunal mucosa and 251 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75444, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75444, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000178573, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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 as a heterodimer. Heterotetramer of two MAF and two USF2.

Interacts with PAX6; the interaction is direct.

Interacts with MYB; interaction takes place weakly in normal T-cells and increases in T-cells following stimulation through the TCR engagement.

Interacts with MYB; the ternary complex formed with MYB and the CD13 promoter is regulated in response to differentiating signals.

Interacts with USF2; the interaction inhibits its DNA-binding activity on the L7 promoter.

Interacts with CREBBP, EP300 and ETS1 (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110269, 27 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		O75444

Protein interaction database and analysis system

More...IntActi		O75444, 6 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000327048

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75444, protein

<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

More...SMRi		O75444

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%5Fand%5Fdomains%5Fsection">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>Domaini288 – 351bZIPPROSITE-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>Regioni126 – 373Represses ARE-mediated transcriptionAdd BLAST248
Regioni288 – 313Basic motifPROSITE-ProRule annotationAdd BLAST26
Regioni316 – 337Leucine-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 biasi126 – 254Gly-richAdd BLAST129
Compositional biasi132 – 252Ala-richAdd BLAST121
Compositional biasi180 – 194His-richAdd BLAST15

<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

More...eggNOGi		KOG4196, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161531

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_063062_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75444

Identification of Orthologs from Complete Genome Data

More...OMAi		MRLDERF

Database of Orthologous Groups

More...OrthoDBi		1395389at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75444

TreeFam database of animal gene trees

More...TreeFami		TF325689

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR004827, bZIP
IPR004826, bZIP_Maf
IPR028573, Maf/V-MAF
IPR013592, Maf_TF_N
IPR008917, TF_DNA-bd_sf
IPR024874, Transcription_factor_Maf_fam

The PANTHER Classification System

More...PANTHERi		PTHR10129, PTHR10129, 1 hit
PTHR10129:SF9, PTHR10129:SF9, 1 hit

Pfam protein domain database

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

Simple Modular Architecture Research Tool; a protein domain database

More...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

More...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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 2 (identifier: O75444-2) [UniParc]FASTAAdd to basket
Also known as: Short

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
MASELAMSNS DLPTSPLAME YVNDFDLMKF EVKKEPVETD RIISQCGRLI 
        60         70         80         90        100
AGGSLSSTPM STPCSSVPPS PSFSAPSPGS GSEQKAHLED YYWMTGYPQQ 
       110        120        130        140        150
LNPEALGFSP EDAVEALISN SHQLQGGFDG YARGAQQLAA AAGAGAGASL 
       160        170        180        190        200
GGSGEEMGPA AAVVSAVIAA AAAQSGAGPH YHHHHHHAAG HHHHPTAGAP 
       210        220        230        240        250
GAAGSAAASA GGAGGAGGGG PASAGGGGGG GGGGGGGGAA GAGGALHPHH 
       260        270        280        290        300
AAGGLHFDDR FSDEQLVTMS VRELNRQLRG VSKEEVIRLK QKRRTLKNRG 
       310        320        330        340        350
YAQSCRFKRV QQRHVLESEK NQLLQQVDHL KQEISRLVRE RDAYKEKYEK 
       360        370 
LVSSGFRENG SSSDNPSSPE FFM
Length:373
Mass (Da):38,492
Last modified:February 10, 2009 - 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:i566C2BC3E4A62762
GO
Isoform 1 (identifier: O75444-1) [UniParc]FASTAAdd to basket
Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     373-373: M → ITEPTRKLEPSVGYATFWKPQHRVLTSVFTK

Show »
Length:403
Mass (Da):41,961
Checksum:i263D2FF2AF8DFB5B
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP11H3BP11_HUMAN
Transcription factor Maf
MAF
383Annotation score:

Annotation score:2 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_07389154S → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502766EnsemblClinVar.1
Natural variantiVAR_07389258T → A in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502767EnsemblClinVar.1
Natural variantiVAR_07389358T → I in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502769EnsemblClinVar.1
Natural variantiVAR_07389459P → H in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar.1
Natural variantiVAR_07389559P → L in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502770EnsemblClinVar.1
Natural variantiVAR_07389662T → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502771EnsemblClinVar.1
Natural variantiVAR_07389769P → R in AYGRP. 1 PublicationCorresponds to variant dbSNP:rs727502768EnsemblClinVar.1
Natural variantiVAR_029369288R → P in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917735EnsemblClinVar.1
Natural variantiVAR_029370297K → R in CTRCT21. 1 PublicationCorresponds to variant dbSNP:rs121917736EnsemblClinVar.1
Natural variantiVAR_073898303Q → L in CTRCT21. 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_000583373M → ITEPTRKLEPSVGYATFWKP QHRVLTSVFTK in isoform 1. 1 Publication1

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
AF055376 mRNA Translation: AAC27037.1
AF055377 mRNA Translation: AAC27038.1
AF055378 Genomic DNA Translation: AAC27039.1
AC009159 Genomic DNA No translation available.
BC081542 mRNA Translation: AAH81542.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10928.1 [O75444-1]
CCDS42198.1 [O75444-2]

NCBI Reference Sequences

More...RefSeqi		NP_001026974.1, NM_001031804.2 [O75444-2]
NP_005351.2, NM_005360.4 [O75444-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000326043; ENSP00000327048; ENSG00000178573 [O75444-1]
ENST00000393350; ENSP00000377019; ENSG00000178573 [O75444-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4094

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4094

UCSC genome browser

More...UCSCi		uc002ffm.4, human [O75444-2]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF055376 mRNA Translation: AAC27037.1
AF055377 mRNA Translation: AAC27038.1
AF055378 Genomic DNA Translation: AAC27039.1
AC009159 Genomic DNA No translation available.
BC081542 mRNA Translation: AAH81542.1
CCDSiCCDS10928.1 [O75444-1]
CCDS42198.1 [O75444-2]
RefSeqiNP_001026974.1, NM_001031804.2 [O75444-2]
NP_005351.2, NM_005360.4 [O75444-1]

3D structure databases

SMRiO75444
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110269, 27 interactors
ELMiO75444
IntActiO75444, 6 interactors
STRINGi9606.ENSP00000327048

PTM databases

iPTMnetiO75444
PhosphoSitePlusiO75444

Genetic variation databases

BioMutaiMAF

Proteomic databases

MassIVEiO75444
PaxDbiO75444
PeptideAtlasiO75444
PRIDEiO75444
ProteomicsDBi50009 [O75444-2]
50010 [O75444-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4143, 480 antibodies

Genome annotation databases

EnsembliENST00000326043; ENSP00000327048; ENSG00000178573 [O75444-1]
ENST00000393350; ENSP00000377019; ENSG00000178573 [O75444-2]
GeneIDi4094
KEGGihsa:4094
UCSCiuc002ffm.4, human [O75444-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4094
DisGeNETi4094

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAF
GeneReviewsiMAF
HGNCiHGNC:6776, MAF
HPAiENSG00000178573, Low tissue specificity
MalaCardsiMAF
MIMi177075, gene
601088, phenotype
610202, phenotype
neXtProtiNX_O75444
NIAGADSiENSG00000178573
OpenTargetsiENSG00000178573
Orphaneti1272, Ayme-Gripp syndrome
1377, Cataract-microcornea syndrome
98989, Cerulean cataract
98984, Pulverulent cataract
PharmGKBiPA30534
VEuPathDBiHostDB:ENSG00000178573.6

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4196, Eukaryota
GeneTreeiENSGT00940000161531
HOGENOMiCLU_063062_0_0_1
InParanoidiO75444
OMAiMRLDERF
OrthoDBi1395389at2759
PhylomeDBiO75444
TreeFamiTF325689

Enzyme and pathway databases

PathwayCommonsiO75444
ReactomeiR-HSA-8940973, RUNX2 regulates osteoblast differentiation
SignaLinkiO75444
SIGNORiO75444

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4094, 17 hits in 1011 CRISPR screens

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

More...ChiTaRSi		MAF, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MAF_(gene)

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

More...GenomeRNAii		4094
PharosiO75444, Tbio

Protein Ontology

More...PROi		PR:O75444
RNActiO75444, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000178573, Expressed in jejunal mucosa and 251 other tissues
ExpressionAtlasiO75444, baseline and differential
GenevisibleiO75444, HS

Family and domain databases

InterProiView protein in InterPro
IPR004827, bZIP
IPR004826, bZIP_Maf
IPR028573, Maf/V-MAF
IPR013592, Maf_TF_N
IPR008917, TF_DNA-bd_sf
IPR024874, Transcription_factor_Maf_fam
PANTHERiPTHR10129, PTHR10129, 1 hit
PTHR10129:SF9, PTHR10129:SF9, 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

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 nameiMAF_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: O75444
Secondary accession number(s): Q66I47, Q9UP93
<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%5Fand%5Fisoforms">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: February 10, 2009
Last modified: April 7, 2021
This is version 177 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

Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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