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

Gene ID: 7975, updated on 2-Nov-2024

Summary

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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
mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MafK accelerates Salmonella mucosal infection through caspase-3 activation.
    Title: MafK accelerates Salmonella mucosal infection through caspase-3 activation.
  2. MAFK Polymorphisms Located in 3'-UTR are Associated with Severity of Atrophy and CDKN2A Methylation Status in the Gastric Mucosa.
    Title: MAFK Polymorphisms Located in 3'-UTR are Associated with Severity of Atrophy and CDKN2A Methylation Status in the Gastric Mucosa.
  3. MAFK genetic polymorphisms are significantly associated with susceptibility to ulcerative colitis development in Japan.
    Title: Genetic polymorphisms of MAFK, encoding a small Maf protein, are associated with susceptibility to ulcerative colitis in Japan.
  4. Findings suggest that MAFK and its target gene GPNMB play important roles in the malignant progression of triple-negative breast cancer (TNBC) cells, offering potentially new therapeutic targets for TNBC patients.
    Title: The transcription factor MAFK induces EMT and malignant progression of triple-negative breast cancer cells through its target GPNMB.
  5. Results suggested that Wnt1-induced MAFK expression promoted cell proliferation in MG63 cells, and that the role of MAFK in osteosarcoma might be closely linked to the Wnt signaling pathway.
    Title: Wnt1-induced MAFK expression promotes osteosarcoma cell proliferation.
  6. MafK mediated p65 acetylation by CBP upon LPS stimulation, thereby facilitating recruitment of p65 to NF-kappaB promoters such as IL-8 and TNFalpha.
    Title: MafK positively regulates NF-κB activity by enhancing CBP-mediated p65 acetylation.
  7. Results suggest that JDP2 is an integral component of the Nrf2-MafK complex and that it modulates antioxidant and detoxification programs by acting via the ARE.
    Title: Jun dimerization protein 2 is a critical component of the Nrf2/MafK complex regulating the response to ROS homeostasis.
  8. Data indicate that transcription factors MafK and Bach1 regulate expression of heme oxygenase-1 (HO-1).
    Title: Transforming growth factor-β induces transcription factors MafK and Bach1 to suppress expression of the heme oxygenase-1 gene.
  9. These findings demonstrate that a combination of p45NF-E2, Maf G, and Maf K is a key determinant of both megakaryopoiesis and thrombopoiesis.
    Title: Induction of functional platelets from mouse and human fibroblasts by p45NF-E2/Maf.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ32205, MGC71717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables transcription cis-regulatory region binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
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
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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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)

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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

  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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60675.1 GenPept UniProtKB/Swiss-Prot:O60675

Gene LinkOut

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