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

MAFK Protein Structure

bZIP_Maf

0
100
156 a.a.

Protein Preferred Names

Protein Names

transcription factor MafK

basic-leucine zipper transcription factor MafK

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

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