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MAF MAF bZIP transcription factor [ Homo sapiens (human) ]

Gene ID: 4094, updated on 2-Nov-2024

Summary

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Official Symbol
MAFprovided by HGNC
Official Full Name
MAF bZIP transcription factorprovided by HGNC
Primary source
HGNC:HGNC:6776
See related
Ensembl:ENSG00000178573 MIM:177075; AllianceGenome:HGNC:6776
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]
Expression
Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See MAF in Genome Data Viewer
Location:
16q23.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (79202622..79600737, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (85268951..85657071, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (79627735..79634634, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene WW domain containing oxidoreductase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11157 Neighboring gene ribosomal protein S3 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:79001468-79001968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:79001969-79002469 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:79009787-79010986 Neighboring gene Sharpr-MPRA regulatory region 10194 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:79087270-79087965 Neighboring gene NANOG hESC enhancer GRCh37_chr16:79111232-79111752 Neighboring gene uncharacterized LOC107984806 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:79203711-79204283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:79321285-79321785 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:79333314-79333961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:79332665-79333313 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:79362104-79362979 Neighboring gene RNA, 5S ribosomal pseudogene 431 Neighboring gene MPRA-validated peak2651 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr16:79516400-79516610 Neighboring gene uncharacterized LOC124903729 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:79561711-79561812 Neighboring gene Sharpr-MPRA regulatory region 6091 Neighboring gene uncharacterized LOC101928230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7737 Neighboring gene uncharacterized LOC105371356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:79742031-79742530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11160 Neighboring gene MAF transcriptional regulator RNA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Over-expression of c-maf by chondrocytes in osteoarthritis. Li T, et al. J Int Med Res, 2009 Jan-Feb. PMID 19215682
  2. Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma. Hurt EM, et al. Cancer Cell, 2004 Feb. PMID 14998494
  3. Skeletal abnormalities are common features in Aymé-Gripp syndrome. Niceta M, et al. Clin Genet, 2020 Feb. PMID 31600839
  4. Maf expression in human macrophages and lymph node sinus macrophages in patients with esophageal cancer. Takeya H, et al. J Clin Exp Hematop, 2019. PMID 31564713, Free PMC Article
  5. A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Vanita V, et al. Am J Med Genet A, 2006 Mar 15. PMID 16470690

See all (130) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcription factor c-Maf drives macrophages to promote hypertrophic scar formation.
    Title: Transcription factor c-Maf drives macrophages to promote hypertrophic scar formation.
  2. Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
    Title: Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
  3. c-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells.
    Title: c-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells.
  4. Differential metabolic requirement governed by transcription factor c-Maf dictates innate gammadeltaT17 effector functionality in mice and humans.
    Title: Differential metabolic requirement governed by transcription factor c-Maf dictates innate γδT17 effector functionality in mice and humans.
  5. c-Maf: The magic wand that turns on LSEC fate.
    Title: c-Maf: The magic wand that turns on LSEC fate.
  6. Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8(+) T Cells in Multiple Sclerosis.
    Title: Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8(+) T Cells in Multiple Sclerosis.
  7. Molecular Mechanisms Driving IL-10- Producing B Cells Functions: STAT3 and c-MAF as Underestimated Central Key Regulators?
    Title: Molecular Mechanisms Driving IL-10- Producing B Cells Functions: STAT3 and c-MAF as Underestimated Central Key Regulators?
  8. MAF Amplification and Adjuvant Clodronate Outcomes in Early-Stage Breast Cancer in NSABP B-34 and Potential Impact on Clinical Practice.
    Title: MAF Amplification and Adjuvant Clodronate Outcomes in Early-Stage Breast Cancer in NSABP B-34 and Potential Impact on Clinical Practice.
  9. Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes.
    Title: Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes.
  10. 16q23/MAF Gene Deletion Is a Frequent Cytogenetic Abnormality in Multiple Myeloma Associated With IgH Deletion but Significantly Lower Incidence of High-Risk Translocations.
    Title: 16q23/MAF Gene Deletion Is a Frequent Cytogenetic Abnormality in Multiple Myeloma Associated With IgH Deletion but Significantly Lower Incidence of High-Risk Translocations.
Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Ayme-Gripp syndrome
MedGen: C1832812 OMIM: 601088 GeneReviews: Ayme-Gripp Syndrome
Compare labs
Cataract 21 multiple types
MedGen: C1857768 OMIM: 610202 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ37017, FLJ43186, MGC71685

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in inner ear development IEA
Inferred from Electronic Annotation
more info
  
involved_in integrated stress response signaling NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in lens fiber cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in megakaryocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of chondrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of RNA polymerase II transcription regulator complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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
v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog

NCBI Reference Sequences (RefSeq)

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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_016440.2 RefSeqGene

    Range
    5000..11899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031804.3 → NP_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, Q66I47, Q9UP93
    UniProtKB/TrEMBL
    Q71A33
    Related
    ENSP00000377019.1, ENST00000393350.1
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

  2. NM_005360.5 → NP_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)
    AC009159, AF055377, BC038438, BC081542, BE644986, BF726289
    Consensus CDS
    CCDS10928.1
    UniProtKB/TrEMBL
    Q71A33
    Related
    ENSP00000327048.4, ENST00000326043.5
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    79202622..79600737 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450279.2 → XP_024306047.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11, Q71A33
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

  2. XM_017023234.3 → XP_016878723.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11, Q71A33
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

  3. XM_017023235.3 → XP_016878724.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11, Q71A33
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

  4. XM_017023233.3 → XP_016878722.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11, Q71A33
    Related
    ENSP00000455097.1, ENST00000569649.1
    Conserved Domains (2) summary
    cd14718
    Location:283 → 351
    bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08383
    Location:86 → 119
    Maf_N; Maf N-terminal region

RNA

  1. XR_002957804.2 RNA Sequence

  2. XR_001751902.3 RNA Sequence

  3. XR_002957803.2 RNA Sequence

  4. XR_002957802.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    85268951..85657071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054380322.1 → XP_054236297.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11

  2. XM_054380323.1 → XP_054236298.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11

  3. XM_054380324.1 → XP_054236299.1  transcription factor Maf isoform X1

    UniProtKB/TrEMBL
    H3BP11
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75444.2 GenPept UniProtKB/Swiss-Prot:O75444

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