MAFA (MAF bZIP transcription factor A)

Gene

• Entrez ID: 389692
• Gene name: MAF bZIP transcription factor A
• Gene symbol: MAFA
• Synonyms (NCBI Gene): INSDM, RIPE3b1, hMafA
• Chromosome: 8
• Chromosome location: 8q24.3
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1554635488	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1125272	hsa-miR-1197	CLIP-seq
MIRT1125273	hsa-miR-214	CLIP-seq
MIRT1125274	hsa-miR-3144-5p	CLIP-seq
MIRT1125275	hsa-miR-3179	CLIP-seq
MIRT1125276	hsa-miR-34b	CLIP-seq
MIRT1125277	hsa-miR-3619-5p	CLIP-seq
MIRT1125278	hsa-miR-4263	CLIP-seq
MIRT1125279	hsa-miR-4650-5p	CLIP-seq
MIRT1125280	hsa-miR-4690-5p	CLIP-seq
MIRT1125281	hsa-miR-576-5p	CLIP-seq
MIRT1125282	hsa-miR-761	CLIP-seq
MIRT1125283	hsa-miR-766	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF6	Repression	18450959

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IDA	12368292
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	17941991
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	12368292
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12368292
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	12368292
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0009749	Process	Response to glucose	IBA
GO:0009749	Process	Response to glucose	IDA	12368292
GO:0030073	Process	Insulin secretion	IBA
GO:0030073	Process	Insulin secretion	IDA	17941991
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17941991
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 610303
• HGNC: 23145
• e!Ensembl: ENSG00000182759

Protein

• UniProt ID: Q8NHW3
• Protein name: Transcription factor MafA (Pancreatic beta-cell-specific transcriptional activator) (RIPE3b1 factor) (V-maf musculoaponeurotic fibrosarcoma oncogene homolog A)
• Protein function: Transcription factor that activates insulin gene expression (PubMed:12011435, PubMed:15993959). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensu
• PDB: 4EOT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08383	Maf_N	111 → 144	Maf N-terminal region	Family
  PF03131	bZIP_Maf	227 → 318	bZIP Maf transcription factor	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the islets of Langerhans (at protein level). {ECO:0000269|PubMed:12917329}.
• Sequence:

  MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCS
  SVPSSPSFCAPSPGTGGGGGAGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMS
  GYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAAAAYEAFRGPGFAGGGGADDM
  GAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL
  NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEV
  GRLAKERDLYKEKYEKLAGRGGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL

• Sequence length: 353

Pathways

KEGG:

Type II diabetes mellitus
Maturity onset diabetes of the young

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Islet cell adenomatosis	Pathogenic; Likely pathogenic	rs1819520149, rs1554635488	RCV003325633 RCV000590882

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	Uncertain significance	rs763299274	RCV002466958
MAFA-related disorder	Uncertain significance; Benign; Likely benign	rs141816879, rs1872900, rs78739463, rs752414651, rs62521874, rs75183115	RCV003919019 RCV003979776 RCV003922218 RCV003926961 RCV003976602 RCV003976734 RCV003981345
Osteopetrosis, autosomal dominant 3	Uncertain significance	rs770823921	RCV005860411

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	34550610
Carcinoma Mucoepidermoid	Associate	23018873
Cataract	Associate	29339498
Colorectal Neoplasms	Inhibit	32869528
Diabetes Mellitus	Associate	29339498
Diabetes Mellitus Type 2	Associate	30372580
Epileptic Syndromes	Associate	29339498
Glaucoma	Associate	29339498
Insulin Resistance	Associate	35872977
Lymphoma Large B Cell Diffuse	Associate	32596373
Periodontitis	Associate	27531006