Mafk v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mafkprovided by MGI
Official Full Name: v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian)provided by MGI
Primary source: MGI:MGI:99951
See related: Ensembl:ENSMUSG00000018143 AllianceGenome:MGI:99951
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: NF-E2; Nfe2u
Summary: Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Acts upstream of or within regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including central nervous system; early conceptus; eye; genitourinary system; and immune system. Orthologous to human MAFK (MAF bZIP transcription factor K). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in small intestine adult (RPKM 16.9), colon adult (RPKM 16.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 78.81 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (139777291..139788409)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (139791536..139802653)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

beta-Cell-Specific Mafk Overexpression Impairs Pancreatic Endocrine Cell Development
Title: β-Cell-Specific Mafk Overexpression Impairs Pancreatic Endocrine Cell Development.
These data identify Mafg and Mafk as new cataract-associated candidates and define their function in regulating largely non-crystallin genes linked to human cataract.
Title: Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.
KAP-1 may contribute to the repression of Ey and beta-major globin gene transcription through recruitment to the promoters of these two genes, mediated by the interaction of KAP-1 with either Zfp445 or MafK, respectively
Title: Identification of KAP-1-associated complexes negatively regulating the Ey and β-major globin genes in the β-globin locus.
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.
MafF, MafG, and MafK triple-knockout mice developed normally until embryonic day 9.5 (E9.5). Thereafter, however, the triple-knockout embryos showed severe growth retardation and liver hypoplasia, and the embryos died around E13.5.
Title: Embryonic lethality and fetal liver apoptosis in mice lacking all three small Maf proteins.
Histological analysis revealed that embryonic development of beta cells in the MafA(-/-)MafK(+) mice was significantly suppressed and the reduced number of beta cells was responsible for the early onset of diabetes.
Title: MafA-deficient and beta cell-specific MafK-overexpressing hybrid transgenic mice develop human-like severe diabetic nephropathy.
MafK/NF-E2 p18 recruitment was involved in the physical proximity of LCR and active beta-globin genes upon beta-globin gene transcriptional activation.
Title: MafK/NF-E2 p18 is required for beta-globin genes activation by mediating the proximity of LCR and active beta-globin genes in MEL cell line.
DNA-binding activity of endogenous MafA was significantly increased in the MafK transgenic mice
Title: MafK overexpression in pancreatic beta-cells caused impairment of glucose-stimulated insulin secretion.
Thus compound mafG::mafK mutants develop age- and maf gene dosage-dependent cell-autonomous neuronal deficiencies that lead to profound neurological defects.
Title: Small Maf compound mutants display central nervous system neuronal degeneration, aberrant transcription, and Bach protein mislocalization coincident with myoclonus and abnormal startle response.
The involvement of both HNF4alpha and NF-E2 in Abcc6 gene regulation suggests that Abcc6 might be involved in a detoxification processes related to hemoglobin or heme.
Title: HNF4alpha and NF-E2 are key transcriptional regulators of the murine Abcc6 gene expression.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

UniSTS:274182 (e-PCR)
- UniSTS:274182

Mafk (e-PCR), detects polymorphism
- UniSTS:274182

D42124 (e-PCR)
- UniSTS:163376

UniSTS:257105 (e-PCR)
- UniSTS:257105

Mafk (e-PCR), detects polymorphism
- UniSTS:257105

PMC203348P1 (e-PCR)
- UniSTS:265575

AW061068 (e-PCR)
- UniSTS:179306

Mafk (e-PCR), detects polymorphism
- UniSTS:259515

Mafk (e-PCR), detects polymorphism
- UniSTS:143815

D5Dcr1 (e-PCR), detects polymorphism
- UniSTS:479718

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RING-like zinc finger domain binding	ISO Inferred from Sequence Orthology more info
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 sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay 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
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor MafK

Names: erythroid transcription factor NF-E2 p18 subunit; nuclear factor, erythroid derived 2, ubiquitous; p18 NF-E2

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_010757.2 → NP_034887.1 transcription factor MafK

See identical proteins and their annotated locations for NP_034887.1

Status: PROVISIONAL

Source sequence(s)

AC167333

Consensus CDS

CCDS19814.1

UniProtKB/Swiss-Prot

Q60600, Q61827

UniProtKB/TrEMBL

Q3U568, Q3UP84

Related

ENSMUSP00000018287.4, ENSMUST00000018287.10

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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

139777291..139788409

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006504653.5 → XP_006504716.1 transcription factor MafK isoform X1

See identical proteins and their annotated locations for XP_006504716.1

UniProtKB/Swiss-Prot

Q60600, Q61827

UniProtKB/TrEMBL

Q3U568, Q3UP84

Related

ENSMUSP00000106460.2, ENSMUST00000110836.2

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