ENSG00000099810


Homo sapiens

Features
Gene ID: ENSG00000099810
  
Biological name :MTAP
  
Synonyms : methylthioadenosine phosphorylase / MTAP / Q13126
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: p21.3
Gene start: 21802543
Gene end: 21937651
  
Corresponding Affymetrix probe sets: 204956_at (Human Genome U133 Plus 2.0 Array)   211363_s_at (Human Genome U133 Plus 2.0 Array)   216685_s_at (Human Genome U133 Plus 2.0 Array)   217134_at (Human Genome U133 Plus 2.0 Array)   231984_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464616
Ensembl peptide - ENSP00000493852
Ensembl peptide - ENSP00000494373
Ensembl peptide - ENSP00000369519
Ensembl peptide - ENSP00000393507
Ensembl peptide - ENSP00000461932
Ensembl peptide - ENSP00000462082
Ensembl peptide - ENSP00000463424
NCBI entrez gene - 4507     See in Manteia.
OMIM - 156540
RefSeq - NM_002451
RefSeq Peptide - NP_002442
swissprot - J3KRN1
swissprot - B4DUC8
swissprot - Q13126
swissprot - J3QSB7
swissprot - F8WES2
Ensembl - ENSG00000099810
  
Related genetic diseases (OMIM): 112250 - Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250
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
 mtapENSDARG00000037261Danio rerio
 MTAPENSGALG00000008174Gallus gallus
 MtapENSMUSG00000062937Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AL359922.1ENSG0000026454543


Protein motifs (from Interpro)
Interpro ID Name
 IPR000845  Nucleoside phosphorylase domain
 IPR010044  Methylthioadenosine phosphorylase (MTAP)
 IPR018099  Purine phosphorylase, family 2, conserved site
 IPR035994  Nucleoside phosphorylase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006139 nucleobase-containing compound metabolic process TAS
 biological_processGO:0006166 purine ribonucleoside salvage IEA
 biological_processGO:0009116 nucleoside metabolic process IEA
 biological_processGO:0019509 L-methionine salvage from methylthioadenosine TAS
 biological_processGO:0032259 methylation IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004645 phosphorylase activity TAS
 molecular_functionGO:0004731 purine-nucleoside phosphorylase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0016763 transferase activity, transferring pentosyl groups IEA
 molecular_functionGO:0017061 S-methyl-5-thioadenosine phosphorylase activity IEA


Pathways (from Reactome)
Pathway description
Methionine salvage pathway
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000099810 MTAP / Q13126 / methylthioadenosine phosphorylase  / complex






 

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