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

    Gene ID: 389692, updated on 21-Apr-2019

    Summary

    Official Symbol
    MAFAprovided by HGNC
    Official Full Name
    MAF bZIP transcription factor Aprovided by HGNC
    Primary source
    HGNC:HGNC:23145
    See related
    Ensembl:ENSG00000182759 MIM:610303
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INSDM; hMafA; RIPE3b1
    Summary
    MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
    Orthologs

    Genomic context

    See MAFA in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (143428060..143430432, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144510230..144512602, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986984 Neighboring gene MAFA antisense RNA 1 Neighboring gene zinc finger CCCH-type containing 3 Neighboring gene small nucleolar RNA, C/D box 149 Neighboring gene RN7SK pseudogene 175

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
      Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Maturity onset diabetes of the young, conserved biosystem (from KEGG)
      Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
    • Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
      Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
    • Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
      Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
    • Type II diabetes mellitus, organism-specific biosystem (from KEGG)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, conserved biosystem (from KEGG)
      Type II diabetes mellitus, conserved biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...
    • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    General protein information

    Preferred Names
    transcription factor MafA
    Names
    RIPE3b1 factor
    pancreatic beta-cell-specific transcriptional activator
    transcription factor RIPE3b1
    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A

    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.

    mRNA and Protein(s)

    1. NM_201589.3NP_963883.2  transcription factor MafA

      See identical proteins and their annotated locations for NP_963883.2

      Status: VALIDATED

      Source sequence(s)
      AC105118
      Consensus CDS
      CCDS34955.1
      UniProtKB/Swiss-Prot
      Q8NHW3
      Related
      ENSP00000328364.2, ENST00000333480.2
      Conserved Domains (2) summary
      cd14718
      Location:249317
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:111144
      Maf_N; Maf N-terminal region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      143428060..143430432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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