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

    Gene ID: 9935, updated on 19-Sep-2024

    Summary

    Official Symbol
    MAFBprovided by HGNC
    Official Full Name
    MAF bZIP transcription factor Bprovided by HGNC
    Primary source
    HGNC:HGNC:6408
    See related
    Ensembl:ENSG00000204103 MIM:608968; AllianceGenome:HGNC:6408
    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
    KRML; MCTO; DURS3
    Summary
    The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
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    Genomic context

    See MAFB in Genome Data Viewer
    Location:
    20q12
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (40685848..40689236, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (42417334..42420722, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (39314488..39317876, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724968 Neighboring gene uncharacterized LOC107985435 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:39272519-39272668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39281495-39281994 Neighboring gene Sharpr-MPRA regulatory region 10482 Neighboring gene uncharacterized LOC105372620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12909 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39318089-39319066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:39319067-39320042 Neighboring gene uncharacterized LOC101927098 Neighboring gene VISTA enhancer hs1086 Neighboring gene small nucleolar RNA, C/D box 154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:39391384-39391884 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:39398981-39399542 Neighboring gene RNA, 5S ribosomal pseudogene 484

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-05-21)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-05-21)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    EBI GWAS Catalog
    Genome-wide association study of serious blistering skin rash caused by drugs.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC43127

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in abducens nerve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain segmentation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cornified envelope assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fat cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrated stress response signaling NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of osteoclast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of myeloid cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    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 respiratory gaseous exchange by respiratory system IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 5 development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rhombomere 6 development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in segment specification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor MafB
    Names
    Kreisler maf-related leucine zipper homolog
    MAFB/Kreisler basic region/leucine zipper transcription factor
    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B

    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.

    Genomic

    1. NG_023378.1 RefSeqGene

      Range
      5001..8389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005461.5NP_005452.2  transcription factor MafB

      See identical proteins and their annotated locations for NP_005452.2

      Status: REVIEWED

      Source sequence(s)
      AF134157, BC028098, BQ271704, DA719830
      Consensus CDS
      CCDS13311.1
      UniProtKB/Swiss-Prot
      B3KNE1, Q9H1F1, Q9Y5Q3
      Related
      ENSP00000362410.2, ENST00000373313.3
      Conserved Domains (2) summary
      cd14718
      Location:233302
      bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
      pfam08383
      Location:81113
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      40685848..40689236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      42417334..42420722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)