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

    Gene ID: 7975, updated on 10-Dec-2024

    Summary

    Official Symbol
    MAFKprovided by HGNC
    Official Full Name
    MAF bZIP transcription factor Kprovided by HGNC
    Primary source
    HGNC:HGNC:6782
    See related
    Ensembl:ENSG00000198517 MIM:600197; AllianceGenome:HGNC:6782
    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
    P18; NFE2U
    Summary
    The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 18.5), prostate (RPKM 14.8) and 25 other tissues See more
    Orthologs
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    Genomic context

    See MAFK in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (1530702..1543043)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (1642830..1655171)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1570338..1582679)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1509467-1510162 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17853 Neighboring gene integrator complex subunit 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1533403-1533903 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545117-1545713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1545714-1546309 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25491 Neighboring gene INTS1-MAFK intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC124901572 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1563055-1563777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17857 Neighboring gene uncharacterized LOC100128653 Neighboring gene Sharpr-MPRA regulatory region 13805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1575241-1576184 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1576185-1577128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1578073-1579015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25495 Neighboring gene transmembrane protein 184A Neighboring gene ReSE screen-validated silencer GRCh37_chr7:1594367-1594549 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1594659-1595459 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1595460-1596259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1599484-1599984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:1599985-1600485 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:1606554-1607122 and GRCh37_chr7:1607123-1607691 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:1609398-1609966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25497 Neighboring gene PSMG3 antisense RNA 1 (head to head) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1615363-1616185 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:1616186-1617008 Neighboring gene proteasome assembly chaperone 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ32205, MGC71717

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex  
    located_in chromatin  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    transcription factor MafK
    Names
    NF-E2 ubiquitous subunit
    basic-leucine zipper transcription factor MafK
    erythroid transcription factor NF-E2 p18 subunit
    nuclear factor erythroid-2, ubiquitous (p18)
    v-maf avian musculoaponeurotic fibrosarcoma oncogene family, protein K
    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog K
    v-maf musculoaponeurotic fibrosarcoma oncogene homolog K

    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_002360.4 → NP_002351.1  transcription factor MafK

      See identical proteins and their annotated locations for NP_002351.1

      Status: VALIDATED

      Source sequence(s)
      AC093734, AF059194
      Consensus CDS
      CCDS5325.1
      UniProtKB/Swiss-Prot
      A4D214, O60675
      UniProtKB/TrEMBL
      A8WFP5
      Related
      ENSP00000344903.4, ENST00000343242.9
      Conserved Domains (1) summary
      cd14717
      Location:46 → 115
      bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      1530702..1543043
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715773.3 → XP_006715836.1  transcription factor MafK isoform X1

      See identical proteins and their annotated locations for XP_006715836.1

      UniProtKB/Swiss-Prot
      A4D214, O60675
      UniProtKB/TrEMBL
      A8WFP5
      Related
      ENSP00000386009.1, ENST00000403150.5
      Conserved Domains (1) summary
      cd14717
      Location:46 → 115
      bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    2. XM_005249851.3 → XP_005249908.2  transcription factor MafK isoform X1

      See identical proteins and their annotated locations for XP_005249908.2

      UniProtKB/Swiss-Prot
      A4D214, O60675
      UniProtKB/TrEMBL
      A8WFP5
      Conserved Domains (1) summary
      cd14717
      Location:46 → 115
      bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

    RNA

    1. XR_007060155.1 RNA Sequence

    2. XR_007060154.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      1642830..1655171
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359003.1 → XP_054214978.1  transcription factor MafK isoform X1

      UniProtKB/Swiss-Prot
      A4D214, O60675
      UniProtKB/TrEMBL
      A8WFP5
    2. XM_054359002.1 → XP_054214977.1  transcription factor MafK isoform X2

    RNA

    1. XR_008487753.1 RNA Sequence

    2. XR_008487752.1 RNA Sequence

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