ENSG00000160323


Homo sapiens

Features
Gene ID: ENSG00000160323
  
Biological name :ADAMTS13
  
Synonyms : ADAM metallopeptidase with thrombospondin type 1 motif 13 / ADAMTS13 / Q76LX8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q34.2
Gene start: 133414358
Gene end: 133459402
  
Corresponding Affymetrix probe sets: 220208_at (Human Genome U133 Plus 2.0 Array)   223844_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000360984
Ensembl peptide - ENSP00000360979
Ensembl peptide - ENSP00000360997
Ensembl peptide - ENSP00000435305
Ensembl peptide - ENSP00000435274
Ensembl peptide - ENSP00000347927
Ensembl peptide - ENSP00000348997
Ensembl peptide - ENSP00000360978
NCBI entrez gene - 11093     See in Manteia.
OMIM - 604134
RefSeq - XM_017014235
RefSeq - NM_139026
RefSeq - NM_139027
RefSeq - XM_011518176
RefSeq - XM_011518178
RefSeq - XM_011518179
RefSeq - XM_017014232
RefSeq - XM_017014233
RefSeq - XM_017014234
RefSeq - NM_139025
RefSeq Peptide - NP_620596
RefSeq Peptide - NP_620594
RefSeq Peptide - NP_620595
swissprot - E7EV88
swissprot - A0A0B4J229
swissprot - Q76LX8
swissprot - A0A0C4DFV8
swissprot - F6V803
Ensembl - ENSG00000160323
  
Related genetic diseases (OMIM): 274150 - Thrombotic thrombocytopenic purpura, familial, 274150
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
 adamts13ENSDARG00000076270Danio rerio
 ADAMTS13ENSGALG00000033597Gallus gallus
 Q769J6ENSMUSG00000014852Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9P2N4 / ADAMTS9 / ADAM metallopeptidase with thrombospondin type 1 motif 9ENSG0000016363825
P59510 / ADAMTS20 / ADAM metallopeptidase with thrombospondin type 1 motif 20ENSG0000017315724
Q8N6G6 / ADAMTSL1 / ADAMTS like 1ENSG0000017803116
P82987 / ADAMTSL3 / ADAMTS like 3ENSG0000015621816
Q8TE58 / ADAMTS15 / ADAM metallopeptidase with thrombospondin type 1 motif 15ENSG0000016610616
Q9UHI8 / ADAMTS1 / ADAM metallopeptidase with thrombospondin type 1 motif 1ENSG0000015473416
O75173 / ADAMTS4 / ADAM metallopeptidase with thrombospondin type 1 motif 4ENSG0000015885915
PAPLN / O95428 / papilin, proteoglycan like sulfated glycoproteinENSG0000010076715
Q9UP79 / ADAMTS8 / ADAM metallopeptidase with thrombospondin type 1 motif 8ENSG0000013491714
THSD4 / Q6ZMP0 / thrombospondin type 1 domain containing 4ENSG0000018772013
Q86TH1 / ADAMTSL2 / ADAMTS like 2ENSG0000019785913
Q9UNA0 / ADAMTS5 / ADAM metallopeptidase with thrombospondin type 1 motif 5ENSG0000015473613
Q6UY14 / ADAMTSL4 / ADAMTS like 4ENSG0000014338213


Protein motifs (from Interpro)
Interpro ID Name
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR001590  Peptidase M12B, ADAM/reprolysin
 IPR006586  ADAM, cysteine-rich
 IPR024079  Metallopeptidase, catalytic domain superfamily
 IPR035914  Spermadhesin, CUB domain superfamily
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0007160 cell-matrix adhesion NAS
 biological_processGO:0007229 integrin-mediated signaling pathway NAS
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0009100 glycoprotein metabolic process NAS
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0014075 response to amine IEA
 biological_processGO:0016485 protein processing TAS
 biological_processGO:0030168 platelet activation NAS
 biological_processGO:0034341 response to interferon-gamma IEA
 biological_processGO:0034612 response to tumor necrosis factor IEA
 biological_processGO:0035864 response to potassium ion IEA
 biological_processGO:0036066 protein O-linked fucosylation TAS
 biological_processGO:0043171 peptide catabolic process IDA
 biological_processGO:0070670 response to interleukin-4 IEA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071346 cellular response to interferon-gamma IEA
 biological_processGO:0071353 cellular response to interleukin-4 IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0009986 cell surface NAS
 molecular_functionGO:0004175 endopeptidase activity IEA
 molecular_functionGO:0004222 metalloendopeptidase activity IEA
 molecular_functionGO:0005178 integrin binding TAS
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008237 metallopeptidase activity IEA
 molecular_functionGO:0008270 zinc ion binding TAS
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins


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:0000093 Proteinuria 
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 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001873 Thrombocytopenia 
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 HP:0001923 Reticulocytosis 
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 HP:0001937 Microangiopathic hemolytic anemia 
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 HP:0001945 Fever 
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 HP:0001981 Schistocytes 
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 HP:0002098 Respiratory distress 
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0002907 Microscopic hematuria 
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 HP:0003138 Increased blood urea nitrogen (BUN) 
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 HP:0003259 Increased creatinine 
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 HP:0005575 Hemolytic-uremic syndrome 
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 HP:0006579 Prolonged neonatal jaundice 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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