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Gene id

4094

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MAF Gene UCSC Ensembl

Aliases

AYGRP, CCA4, CTRCT21, c-MAF

Gene name

MAF bZIP transcription factor

Alternate names

transcription factor Maf, Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene, T lymphocyte c-maf long form, c-maf proto-oncogene, proto-oncogene c-Maf, v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog,

Gene location

16q23.2 (158521710: 158653371) Exons: 23 NC_000004.12

Gene summary(Entrez)

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

OMIM

177075

Protein Summary

Protein general information

O75444

Name: Transcription factor Maf (Proto-oncogene c-Maf) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog)

Length: 373 Mass: 38,492

Tissue specificity: Expressed in endothelial cells. {ECO

Sequence

MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSA
PSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASL
GGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAG
GGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRG
YAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM

Structural information

Protein Domains	bZIP. (288-351)
Interpro:	IPR004827 IPR004826 IPR028573 IPR013592 IPR008917 IPR024874
Prosite:	PS50217
Pfam:	PF03131 PF08383
STRING:	ENSP00000327048;

Other Databases

GeneCards: MAF; Malacards: MAF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001816	cytokine production	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IBA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048468	cell development	IEA	biological_process
GO:0048839	inner ear development	IEA	biological_process
GO:0070306	lens fiber cell different iation	IBA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IEA	molecular_function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0001816	cytokine production	IEA	biological_process
GO:0002088	lens development in camer a-type eye	IEA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IBA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0032330	regulation of chondrocyte differentiation	IEA	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0048468	cell development	IEA	biological_process
GO:0048839	inner ear development	IEA	biological_process
GO:0070306	lens fiber cell different iation	IEA	biological_process
GO:0070306	lens fiber cell different iation	IBA	biological_process
GO:0000785	chromatin	TAS	cellular_component
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IBA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0070306	lens fiber cell different iation	IBA	biological_process

KEGG pathways

hsa05202 Transcriptional misregulation in cancer
hsa04658 Th1 and Th2 cell differentiation

Diseases

Associated diseases	References
Diabetes	GAD19479237
Cataract 21	OMIM610202
Ayme-Gripp syndrome	OMIM601088
Endometriosis	PubMed28300844
Cataract	KEGGH01202
Multiple myeloma	KEGGH00010

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
28300844	Endometrio sis						Show abstract