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

Gene ID: 7975, updated on 6-Sep-2021

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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (1530702..1543043)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (1570338..1582679)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene integrator complex subunit 1 Neighboring gene INTS1-MAFK intergenic CAGE-defined mid-level expression enhancer Neighboring gene uncharacterized LOC100128653 Neighboring gene Sharpr-MPRA regulatory region 13805 Neighboring gene transmembrane protein 184A Neighboring gene Sharpr-MPRA regulatory region 1064 Neighboring gene Sharpr-MPRA regulatory region 12096 Neighboring gene proteasome assembly chaperone 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32205, MGC71717

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nervous system development IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
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
PubMed 

General protein information

Preferred Names
transcription factor MafK
Names
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_002360.4NP_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
    O60675
    UniProtKB/TrEMBL
    A0A024R804
    Related
    ENSP00000344903.4, ENST00000343242.9
    Conserved Domains (1) summary
    cd14717
    Location:46115
    bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005249851.2XP_005249908.2  transcription factor MafK isoform X1

    See identical proteins and their annotated locations for XP_005249908.2

    UniProtKB/Swiss-Prot
    O60675
    UniProtKB/TrEMBL
    A0A024R804
    Related
    ENSP00000385437.2, ENST00000406174.2
    Conserved Domains (1) summary
    cd14717
    Location:46115
    bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
  2. XM_006715773.2XP_006715836.1  transcription factor MafK isoform X1

    See identical proteins and their annotated locations for XP_006715836.1

    UniProtKB/Swiss-Prot
    O60675
    UniProtKB/TrEMBL
    A0A024R804
    Related
    ENSP00000386009.1, ENST00000403150.5
    Conserved Domains (1) summary
    cd14717
    Location:46115
    bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
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