ENSG00000135318


Homo sapiens

Features
Gene ID: ENSG00000135318
  
Biological name :NT5E
  
Synonyms : 5-nucleotidase ecto / NT5E / P21589
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q14.3
Gene start: 85449584
Gene end: 85495791
  
Corresponding Affymetrix probe sets: 1553994_at (Human Genome U133 Plus 2.0 Array)   1553995_a_at (Human Genome U133 Plus 2.0 Array)   203939_at (Human Genome U133 Plus 2.0 Array)   227486_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000414674
Ensembl peptide - ENSP00000257770
Ensembl peptide - ENSP00000358660
Ensembl peptide - ENSP00000358665
Ensembl peptide - ENSP00000387630
NCBI entrez gene - 4907     See in Manteia.
OMIM - 129190
RefSeq - NM_002526
RefSeq - NM_001204813
RefSeq Peptide - NP_001191742
RefSeq Peptide - NP_002517
swissprot - Q96B60
swissprot - H0Y3X5
swissprot - H0Y7R7
swissprot - P21589
Ensembl - ENSG00000135318
  
Related genetic diseases (OMIM): 211800 - Calcification of joints and arteries, 211800
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
 nt5eENSDARG00000071017Danio rerio
 ENSGALG00000015833Gallus gallus
 Nt5eENSMUSG00000032420Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR004843  Calcineurin-like phosphoesterase domain, ApaH type
 IPR006146  5"-Nucleotidase, conserved site
 IPR006179  5"-Nucleotidase/apyrase
 IPR008334  5"-Nucleotidase, C-terminal
 IPR029052  Metallo-dependent phosphatase-like
 IPR036907  5"-Nucleotidase, C-terminal domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006195 purine nucleotide catabolic process TAS
 biological_processGO:0006196 AMP catabolic process IEA
 biological_processGO:0006259 DNA metabolic process TAS
 biological_processGO:0007159 leukocyte cell-cell adhesion IDA
 biological_processGO:0009166 nucleotide catabolic process IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0019674 NAD metabolic process TAS
 biological_processGO:0046086 adenosine biosynthetic process IEA
 biological_processGO:0046135 pyrimidine nucleoside catabolic process TAS
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface HDA
 cellular_componentGO:0016020 membrane TAS
 cellular_componentGO:0031225 anchored component of membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0008253 5"-nucleotidase activity IDA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016788 hydrolase activity, acting on ester bonds IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Nicotinate metabolism
Pyrimidine catabolism
Purine catabolism


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000925 Abnormality of the vertebral column "Any abnormality of the spine (vertebral column)." [HPO:curators]
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 HP:0001367 Abnormality of the joints "An abnormality of the joints, i.e., of the articulations where two bones join." [HPO:curators]
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 HP:0001717 Coronary artery calcification 
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 HP:0003207 Arterial calcification "Calcification affecting arteries." [HPO:curators]
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 HP:0005116 Arterial tortuosity "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators]
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 HP:0011986 Ectopic ossification "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [HPO:probinson]
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 HP:0012101 Decreased serum creatinine "An abnormally reduced amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0025324 Arterial occlusion "Blockage of blood flow through an artery." []
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135318 NT5E / P21589 / 5-nucleotidase ecto  / complex






 

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