MAFA MAF bZIP transcription factor A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAFAprovided by HGNC
Official Full Name: MAF bZIP transcription factor Aprovided by HGNC
Primary source: HGNC:HGNC:23145
See related: Ensembl:ENSG00000182759 MIM:610303; AllianceGenome:HGNC:23145
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: INSDM; hMafA; RIPE3b1
Summary: MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (143428064..143430732, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (144577736..144580401, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (144510234..144512902, complement)

Chromosome 8 - NC_000008.11 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?

CREB activates the MafA promoter through proximal E-boxes and a CCAAT motif in pancreatic beta-cells.
Title: CREB activates the MafA promoter through proximal E-boxes and a CCAAT motif in pancreatic β-cells.
The ubiquitin ligase HERC4 suppresses MafA transcriptional activity triggered by GSK3beta in myeloma by atypical K63-linked polyubiquitination.
Title: The ubiquitin ligase HERC4 suppresses MafA transcriptional activity triggered by GSK3β in myeloma by atypical K63-linked polyubiquitination.
Adult Proinsulinomatosis Associated With a MAFA Germline Mutation as a Rare Cause of Recurrent Hypoglycemia.
Title: Adult Proinsulinomatosis Associated With a MAFA Germline Mutation as a Rare Cause of Recurrent Hypoglycemia.
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.
Oxidative Stress Leads to beta-Cell Dysfunction Through Loss of beta-Cell Identity.
Title: Oxidative Stress Leads to β-Cell Dysfunction Through Loss of β-Cell Identity.
The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in beta-cells.
Title: The MafA-target gene PPP1R1A regulates GLP1R-mediated amplification of glucose-stimulated insulin secretion in β-cells.
The deubiquitinase USP7 stabilizes Maf proteins to promote myeloma cell survival.
Title: The deubiquitinase USP7 stabilizes Maf proteins to promote myeloma cell survival.
These findings suggest that PIASy binds to MafA through the SAP domain and negatively regulates the insulin gene promoter through a novel SIM1-dependent mechanism.
Title: PIASy is a SUMOylation-independent negative regulator of the insulin transactivator MafA.
confirm the association of miR-204 with a beta cell endocrine phenotype in human pancreatic islets, but do not support its direct role in regulating the levels of insulin mRNA through MAFA
Title: miR-204 is associated with an endocrine phenotype in human pancreatic islets but does not regulate the insulin mRNA through MAFA.
We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p.Ser64Phe, c.191C>T) segregating with both phenotypes of insulinomatosis and diabetes.
Title: MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

Associated conditions

Description	Tests
Islet cell adenomatosis MedGen: C1578917 OMIM: 147630 GeneReviews: Not available	Compare labs

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement 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 factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in insulin secretion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of insulin secretion	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 regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment 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 MafA

Names: RIPE3b1 activator; RIPE3b1 factor; pancreatic beta-cell-specific transcriptional activator; transcription factor RIPE3b1; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 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_201589.4 → NP_963883.2 transcription factor MafA

See identical proteins and their annotated locations for NP_963883.2

Status: VALIDATED

Source sequence(s)

AC105118

Consensus CDS

CCDS34955.1

UniProtKB/Swiss-Prot

Q8NHW3

UniProtKB/TrEMBL

D4Q8H3

Related

ENSP00000328364.2, ENST00000333480.3

Conserved Domains (2) summary

cd14718
Location:249 → 317

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

pfam08383
Location:111 → 144

Maf_N; Maf N-terminal region