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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

MafK accelerates Salmonella mucosal infection through caspase-3 activation.
Title: MafK accelerates Salmonella mucosal infection through caspase-3 activation.
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.
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.
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.
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.
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.
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.
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.
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.

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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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A007E29 (e-PCR)
- UniSTS:63617

NoName (e-PCR)
- UniSTS:481710

RH78695 (e-PCR)
- UniSTS:9670

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)

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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

1530702..1543043

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

XR_007060155.1 RNA Sequence
XR_007060154.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

1642830..1655171

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

A4D214, O60675
XM_054359002.1 → XP_054214977.1 transcription factor MafK isoform X2