MAFK - MAF bZIP transcription factor K Gene

Homo sapiens

Also known as P18; NFE2U

Gene ID: 7975 | Gene type: protein coding

About MAFK

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:1,530,702-1,543,043 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 18.5), prostate (RPKM 14.8) and 25 other tissues.

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]

MAFK Products(1)

mRNA	Protein	Name
NM_002360.4	NP_002351.1	transcription factor MafK

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9150357	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8932385	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23332764	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9150357	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAFK Protein Structure

bZIP_Maf

0
100
156 a.a.

Protein Preferred Names

Protein Names

transcription factor MafK

basic-leucine zipper transcription factor MafK

MAFK Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	MAFK	O60675	BACH2	Homo sapiens	Q9BYV9	Y2H Prey Pooling	32296183
Intra	MAFK	O60675	BACH2	Homo sapiens	Q9BYV9	Validated Y2H	32296183
Intra	MAFK	O60675	BACH2	Homo sapiens	Q9BYV9	Y2H Array	32296183
Intra	MAFK	O60675	NFE2L2	Homo sapiens	Q16236	Anti Tag CoIP	33961781
Intra	MAFK	O60675	NFE2L2	Homo sapiens	Q16236	Validated Y2H	32296183
Intra	MAFK	O60675	NFE2L2	Homo sapiens	Q16236	Y2H Prey Pooling	32296183
Intra	MAFK	O60675	NFE2L2	Homo sapiens	Q16236	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Fibrosarcoma

Neoplasms, Fibrous Tissue	Fibrocytic Tumor
Fibrosarcoma Of Soft Tissue	Fibrous Tissue Neoplasm

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma	Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Finkel Disease	Smafk
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant	Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma

Ayme-Gripp Syndrome

AYGRP	Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation
Aymé-Gripp Syndrome	Fine-Lubinsky Syndrome
Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome	Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07962	MAFK Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	MAFK	VGNC	VGNC:31142
Mus musculus	MAFK	MGD	MGI:99951
Canis familiaris	MAFK	VGNC	VGNC:42922
Rattus norvegicus	MAFK	RGD	RGD:628633
Felis catus	MAFK	VGNC	VGNC:107760
Macaca mulatta	MAFK	VGNC	VGNC:81717

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