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

    Gene ID: 4094, updated on 4-Nov-2018

    Summary

    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; 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]
    Expression
    Ubiquitous expression in kidney (RPKM 1.3), endometrium (RPKM 0.9) and 24 other tissues See more
    Orthologs

    Genomic context

    See MAF in Genome Data Viewer
    Location:
    16q23.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (79202624..79601952, 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 LOC107984806 Neighboring gene RNA, 5S ribosomal pseudogene 431 Neighboring gene uncharacterized LOC101928230 Neighboring gene uncharacterized LOC105371356 Neighboring gene long intergenic non-protein coding RNA 1229 Neighboring gene MAF transcriptional regulator RNA

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Ayme-gripp syndrome
    MedGen: C1832812 OMIM: 601088 GeneReviews: Not available
    Compare labs
    Cataract 21, multiple types
    MedGen: C3888097 OMIM: 610202 GeneReviews: Not available
    Compare labs

    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

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    transcription by RNA polymerase II 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    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)

    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
      ENSP00000377019.1, OTTHUMP00000196745, ENST00000393350.1, OTTHUMT00000317037
      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region
    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
      ENSP00000327048.4, OTTHUMP00000174965, ENST00000326043.4, OTTHUMT00000269042
      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      79202624..79601952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region
    2. XM_017023234.2XP_016878723.1  transcription factor Maf isoform X1

      UniProtKB/TrEMBL
      H3BP11
      Related
      ENSP00000455097.1, OTTHUMP00000255504, ENST00000569649.1
      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region
    3. XM_017023235.2XP_016878724.1  transcription factor Maf isoform X1

      UniProtKB/TrEMBL
      H3BP11
      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region
    4. XM_017023233.2XP_016878722.1  transcription factor Maf isoform X1

      UniProtKB/TrEMBL
      H3BP11
      Conserved Domains (2) summary
      cd14718
      Location:283351
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:86119
      Maf_N; Maf N-terminal region

    RNA

    1. XR_002957804.1 RNA Sequence

    2. XR_001751902.2 RNA Sequence

    3. XR_002957803.1 RNA Sequence

    4. XR_002957802.1 RNA Sequence

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