MAFA - MAF bZIP transcription factor A Gene

Also Known as INSDM; hMafA; RIPE3b1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 389692

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS07397	KLRG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N19830	Guavenoic acid	Inhibitor	/	Unkown
HY-RS07958	MAFA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174585	Human MAFA mRNA		/	Unkown
HY-RS17468	Klrg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19615	Mafa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23926	Klrg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26110	Mafa Rat Pre-designed siRNA Set A	Pre-designed Set	/	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