MAFA - MAF bZIP transcription factor A Gene

Homo sapiens

Also known as INSDM; hMafA; RIPE3b1

Gene ID: 389692 | Gene type: protein coding

About MAFA

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,428,064-143,430,732 (from NCBI)

This gene has 2 transcripts (splice variants), 168 orthologues, 6 paralogues and is associated with 1 phenotype.

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]

MAFA Products(1)

mRNA	Protein	Name
NM_201589.4	NP_963883.2	transcription factor MafA

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	12368292	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	17941991	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of insulin secretion	IDA IDA: Inferred from direct assay	17941991	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17941991	GOA
involved in response to glucose	IDA IDA: Inferred from direct assay	12368292	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	12368292	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAFA Protein Structure

Maf_N

bZIP_Maf

0
100
200
300
353 a.a.

Protein Preferred Names

Protein Names

transcription factor MafA

RIPE3b1 activator

Related Diseases

Diseases

Alias

Insulinomatosis And Diabetes Mellitus

Islet Cell Adenomatosis	INSDM
Nesidioblastosis

Fibrosarcoma

Neoplasms, Fibrous Tissue	Fibrocytic Tumor
Fibrosarcoma Of Soft Tissue	Fibrous Tissue Neoplasm

Hyperinsulinemic Hypoglycemia

Nesidioblastosis	Islet Cell Hyperplasia
Persistent Hyperinsulinemia Hypoglycemia Of Infancy	Hyperinsulinemic Hypoglycaemia

Diabetes Mellitus

Diabetes

Insulinoma

Islet Cell Adenoma	Insulin-Producing Tumor Of Islet Cells
Adenoma Islet Cell	Islet Cell Tumor
Experimental Organism Islet Cell Adenoma Neoplasm

Hypoglycemia

Hypoglycaemia	Low Blood Sugar
Hypoglycaemia Nos	Spontaneous Hypoglycaemia
Nondiabetic Hypoglycaemia	Hypoglycaemic Disorder Nos
Hypoglycaemic Syndrome

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07958	MAFA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MAFA	VGNC	VGNC:104464
Bos taurus	MAFA	VGNC	VGNC:31138
Canis familiaris	MAFA	VGNC	VGNC:42920
Rattus norvegicus	MAFA	RGD	RGD:1562627
Mus musculus	MAFA	MGD	MGI:2673307
Others	MAFA	NCBI

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