ENSG00000137364


Homo sapiens

Features
Gene ID: ENSG00000137364
  
Biological name :TPMT
  
Synonyms : P51580 / thiopurine S-methyltransferase / TPMT
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p22.3
Gene start: 18128311
Gene end: 18155074
  
Corresponding Affymetrix probe sets: 203671_at (Human Genome U133 Plus 2.0 Array)   203672_x_at (Human Genome U133 Plus 2.0 Array)   238272_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000312304
NCBI entrez gene - 7172     See in Manteia.
OMIM - 187680
RefSeq - XM_017011241
RefSeq - NM_000367
RefSeq - XM_011514839
RefSeq Peptide - NP_001333746
RefSeq Peptide - NP_000358
swissprot - P51580
swissprot - A0A024QZW0
Ensembl - ENSG00000137364
  
Related genetic diseases (OMIM): 610460 - {Thiopurines, poor metabolism of, 1}, 610460
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
 tpmt.1ENSDARG00000055974Danio rerio
 tpmt.1ENSDARG00000028012Danio rerio
 TPMTENSGALG00000012687Gallus gallus
 TpmtENSMUSG00000021376Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR008854  TPMT family
 IPR025835  Thiopurine S-methyltransferase
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006139 nucleobase-containing compound metabolic process TAS
 biological_processGO:0032259 methylation TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0008119 thiopurine S-methyltransferase activity TAS
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0008757 S-adenosylmethionine-dependent methyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA


Pathways (from Reactome)
Pathway description
Methylation
Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency)


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


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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