ENSG00000182759


Homo sapiens

Features
Gene ID: ENSG00000182759
  
Biological name :MAFA
  
Synonyms : MAFA / MAF bZIP transcription factor A / Q8NHW3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.3
Gene start: 143419182
Gene end: 143430406
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000328364
NCBI entrez gene - 389692     See in Manteia.
OMIM - 610303
RefSeq - NM_201589
RefSeq Peptide - NP_963883
swissprot - Q8NHW3
Ensembl - ENSG00000182759
  
Related genetic diseases (OMIM): 147630 - Insulinomatosis and diabetes mellitus, 147630

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mafaaENSDARG00000044155Danio rerio
 MAFAENSGALG00000026264Gallus gallus
 MafaENSMUSG00000047591Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MAF / O75444 / MAF bZIP transcription factorENSG0000017857354
MAFB / Q9Y5Q3 / MAF bZIP transcription factor BENSG0000020410352
NRL / P54845 / neural retina leucine zipperENSG0000012953537
MAFK / O60675 / MAF bZIP transcription factor KENSG0000019851719
MAFF / Q9ULX9 / MAF bZIP transcription factor FENSG0000018502217
MAFG / O15525 / MAF bZIP transcription factor GENSG0000019706317


Protein motifs (from Interpro)
Interpro ID Name
 IPR004826  Basic leucine zipper domain, Maf-type
 IPR004827  Basic-leucine zipper domain
 IPR008917  Transcription factor, Skn-1-like, DNA-binding domain superfamily
 IPR013592  Maf transcription factor, N-terminal
 IPR024874  Transcription factor Maf family
 IPR028562  Transcription factor MafA


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007263 nitric oxide mediated signal transduction IDA
 biological_processGO:0009749 response to glucose IDA
 biological_processGO:0030073 insulin secretion IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 cellular_componentGO:0005634 nucleus IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0042803 protein homodimerization activity TAS
 molecular_functionGO:0046982 protein heterodimerization activity NAS


Pathways (from Reactome)
Pathway description
Regulation of gene expression in beta cells


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000819 Diabetes mellitus 
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 HP:0008194 Multiple pancreatic beta-cell adenomas 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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