Mafa MAF bZIP transcription factor A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mafaprovided by MGI
Official Full Name: MAF bZIP transcription factor Aprovided by MGI
Primary source: MGI:MGI:2673307
See related: Ensembl:ENSMUSG00000047591 AllianceGenome:MGI:2673307
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: RIPE3b1
Summary: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within positive regulation of transcription, DNA-templated. Located in nucleus. Is expressed in several structures, including lens vesicle; myotome; nervous system; pancreas; and spleen. Used to study maturity-onset diabetes of the young and type 2 diabetes mellitus. Orthologous to human MAFA (MAF bZIP transcription factor A). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human all
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Genomic context

Location:: 15 D3; 15 34.82 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (75617350..75620170, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (75745501..75748321, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MafB Maintains beta-Cell Identity under MafA-Deficient Conditions.
Title: MafB Maintains β-Cell Identity under MafA-Deficient Conditions.
Sex-biased islet beta cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
Title: Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males.
An Inducible Diabetes Mellitus Murine Model Based on MafB Conditional Knockout under MafA-Deficient Condition.
Title: An Inducible Diabetes Mellitus Murine Model Based on MafB Conditional Knockout under MafA-Deficient Condition.
Loss of MafA and MafB expression promotes islet inflammation.
Title: Loss of MafA and MafB expression promotes islet inflammation.
Here, we observed that treatment with Ad-FIGF was found to enhance MafA and Ngn3-induced reprogramming of BNL CL.2 cells to beta-like cells with the ability of secreting insulin.
Title: Effect of FIGF overexpression on liver cells transforming to insulin-producing cells.
Kindlin-2, through its C-terminal region, binds to and stabilizes MafA, which activates insulin expression.
Title: Kindlin-2 modulates MafA and β-catenin expression to regulate β-cell function and mass in mice.
Data suggest that hepatocytes can be reprogrammed into insulin-producing cells in vivo by transfection of neurogenin-3, Pdx1, and MafA genes using non-viral hydrodynamics injection; this procedure was used in treatment of streptozotocin diabetes; fasting blood glucose was reduced to normal. (Pdx1 = pancreatic and duodenal homeobox 1; MafA = v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A)
Title: In vivo direct reprogramming of liver cells to insulin producing cells by virus-free overexpression of defined factors.
Mafa was found to both potentiate the ability of Pdx1 to induce beta-cell formation from Ngn3-positive endocrine precursors and enable Pdx1 to produce beta-cells from alpha-cells.
Title: Mafa Enables Pdx1 to Effectively Convert Pancreatic Islet Progenitors and Committed Islet α-Cells Into β-Cells In Vivo.
MAFA controls autonomic nervous system-mediated insulin secretion by activating the transcription of nicotinic (ChrnB2 and ChrnB4) receptor genes, which is impaired in type 2 diabetes.
Title: MafA-Controlled Nicotinic Receptor Expression Is Essential for Insulin Secretion and Is Impaired in Patients with Type 2 Diabetes.
These findings demonstrate that regulation of monoamine levels by Mao activity in beta cells is pivotal for physiological insulin secretion and that loss of MaoB expression may contribute to the beta cell dysfunction in type 2 diabetes.
Title: Islet-specific monoamine oxidase A and B expression depends on MafA transcriptional activity and is compromised in type 2 diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:495376

PMC180917P1 (e-PCR)
- UniSTS:271669

PMC124472P1 (e-PCR)
- UniSTS:270470

Mafa (e-PCR), detects polymorphism
- UniSTS:525500

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in insulin secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of insulin secretion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	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
involved_in response to glucose	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to glucose	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: transcription factor MafA

Names: Mafa homolog; V-maf musculoaponeurotic fibrosarcoma oncogene homolog A; pancreatic beta-cell-specific transcriptional activator; v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A

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_194350.2 → NP_919331.1 transcription factor MafA

See identical proteins and their annotated locations for NP_919331.1

Status: VALIDATED

Source sequence(s)

AC116393

Consensus CDS

CCDS27549.1

UniProtKB/Swiss-Prot

Q8CF90

Related

ENSMUSP00000054226.5, ENSMUST00000062002.6

Conserved Domains (2) summary

cd14718
Location:255 → 323

bZIP_Maf_large; Basic leucine zipper (bZIP) domain of large musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08383
Location:111 → 142

Maf_N; Maf N-terminal region