Entity Details

Primary name MAFA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8NHW3
EntryNameMAFA_HUMAN
FullNameTranscription factor MafA
TaxID9606
Evidenceevidence at protein level
Length353
SequenceStatuscomplete
DateCreated2008-02-26
DateModified2021-06-02

Ontological Relatives

GenesMAFA

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007263 nitric oxide mediated signal transduction
GO:0009749 response to glucose
GO:0030073 insulin secretion
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR004826 Basic leucine zipper domain, Maf-typeDomainDomain
IPR004827 Basic-leucine zipper domainDomainDomain
IPR008917 Transcription factor, Skn-1-like, DNA-binding domain superfamilyFamilyHomologous superfamily
IPR013592 Maf transcription factor, N-terminalDomainDomain
IPR024874 Transcription factor Maf familyFamilyFamily
IPR028562 Transcription factor MafAFamilyFamily

Diseases

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Disease IDSourceNameDescription
147630 OMIMInsulinomatosis and diabetes mellitus (INSDM)An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma. The disease is caused by variants affecting the gene represented in this entry.