U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 389692, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:23145
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MAFA in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (143428064..143430732, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (144577736..144580401, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144510234..144512902, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144450004-144450559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144451300-144452207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144452208-144453114 Neighboring gene RHPN1 antisense RNA 1 (head to head) Neighboring gene rhophilin Rho GTPase binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144482673-144483320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144483321-144483968 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144483969-144484616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144484617-144485263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144487803-144488782 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19621 Neighboring gene MAFA antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144504663-144505250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28071 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144517937-144518722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144518723-144519506 Neighboring gene Sharpr-MPRA regulatory region 10662 Neighboring gene zinc finger CCCH-type containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144544126-144544839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144544840-144545552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144547684-144548592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144550408-144551314 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144552747-144553448 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144561253-144561753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144569950-144570487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:144570488-144571024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:144583622-144584122 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:144597771-144597965 Neighboring gene small nucleolar RNA, C/D box 149 Neighboring gene RN7SK pseudogene 175

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in insulin secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of insulin secretion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to glucose IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to glucose IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_201589.4NP_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
      UniProtKB/TrEMBL
      D4Q8H3
      Related
      ENSP00000328364.2, ENST00000333480.3
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      143428064..143430732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      144577736..144580401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)