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MAF v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog [ Homo sapiens (human) ]

Gene ID: 4094, updated on 2-Aug-2015
Official Symbol
MAFprovided by HGNC
Official Full Name
v-maf avian musculoaponeurotic fibrosarcoma oncogene homologprovided by HGNC
Primary source
HGNC:HGNC:6776
See related
Ensembl:ENSG00000178573; HPRD:01518; MIM:177075; Vega:OTTHUMG00000137621
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CCA4; AYGRP; c-MAF; CTRCT21
Summary
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]
Orthologs
Location:
16q22-q23
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (79212772..79600786, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (79627745..79634622, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene WW domain containing oxidoreductase Neighboring gene ribosomal protein S3 pseudogene 7 Neighboring gene uncharacterized LOC105371352 Neighboring gene RNA, 5S ribosomal pseudogene 431 Neighboring gene uncharacterized LOC101928230 Neighboring gene uncharacterized LOC105371356 Neighboring gene MAF transcriptional regulator RNA

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Cataract, pulverulent, juvenile-onset
MedGen: C1857768 OMIM: 610202 GeneReviews: Not available
Compare labs
Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
MedGen: C1832812 OMIM: 601088 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families.
NHGRI GWA Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog
Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
NHGRI GWA Catalog
Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
NHGRI GWA Catalog
Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
Meta-analysis of two genome-wide association studies identifies four genetic loci associated with thyroid function.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC71685

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell development IEA
Inferred from Electronic Annotation
more info
 
cytokine production IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromatin TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
transcription factor Maf
Names
Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene
T lymphocyte c-maf long form
c-maf proto-oncogene
proto-oncogene c-Maf

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016440.1 RefSeqGene

    Range
    5001..11878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031804.2NP_001026974.1  transcription factor Maf isoform b

    See identical proteins and their annotated locations for NP_001026974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents an unspliced transcript compared to variant 1, which results in a frame-shift and a shorter isoform (b) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC009159, BC038438, BC081542, BE644986, BF726289
    Consensus CDS
    CCDS42198.1
    UniProtKB/Swiss-Prot
    O75444
    Related
    ENSP00000377019, OTTHUMP00000196745, ENST00000393350, OTTHUMT00000317037
    Conserved Domains (2) summary
    pfam08383
    Location:86120
    Maf_N; Maf N-terminal region
    cd14718
    Location:283351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  2. NM_005360.4NP_005351.2  transcription factor Maf isoform a

    See identical proteins and their annotated locations for NP_005351.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is spliced and encodes the longer isoform (a).
    Source sequence(s)
    AF055377, BC038438, BC081542, BE644986, BF726289
    Consensus CDS
    CCDS10928.1
    UniProtKB/Swiss-Prot
    O75444
    Related
    ENSP00000327048, OTTHUMP00000174965, ENST00000326043, OTTHUMT00000269042
    Conserved Domains (2) summary
    pfam08383
    Location:86120
    Maf_N; Maf N-terminal region
    cd14718
    Location:283351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    79212772..79600786
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523084.1XP_011521386.1  

    UniProtKB/TrEMBL
    H3BP11
    Conserved Domains (2) summary
    pfam08383
    Location:86120
    Maf_N; Maf N-terminal region
    cd14718
    Location:283351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    81039513..81046247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)