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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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    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
    		not available
    Cataract 21 multiple types
    MedGen: C1857768 OMIM: 610202 GeneReviews: Not available
    		not available

    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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    NEW Try the new Transcript table

    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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