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Protein Ontology report - exostosin-1 (human)
PR:Q16394 - http://purl.obolibrary.org/obo/PR_Q16394
 
  Protein Forms      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:Q16394   
  PRO nameexostosin-1 (human) 
  Synonyms
PRO-Short-label: EXACT:hEXT1
Gene-based: RELATED:EXT1
Other: EXACT:exostosin glycosyltransferase 1 (human) | multiple exostoses protein 1 (human) | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase (human)
RELATED:heparan sulfate co-polymerase subunit EXT1 (human)
  Definition"An exostosin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q16394] 
  PRO Categoryorganism-gene 
  ParentPR:000007268 exostosin-1
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:3512 EXT1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 4                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:Q16394
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:Q16394
exostosin-1 (human)
hEXT1
"An exostosin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:Q16394]

organism-sequence


PR:000060559
exostosin-1 sequence variant G339L (human)
hEXT1/var:G339L
"An exostosin-1 (human) that has a Leu residue at the position equivalent to Gly-339 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Gly-339, CHEBI:30006." [PRO:DNx, Reactome:R-HSA-3730912]

organism-sequence


PR:000060959
exostosin-1 sequence variant R340C (human)
hEXT1/var:R340C
"An exostosin-1 (human) that has a Cys residue at the position equivalent to Arg-340 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Arg-340, CHEBI:29950." [PRO:DNx, Reactome:R-HSA-3730974]

organism-sequence


PR:000062389
exostosin-1 sequence variant G339D (human)
hEXT1/var:G339D
"An exostosin-1 (human) that has an Asp residue at the position equivalent to Gly-339 of the amino acid sequence represented by UniProtKB:Q16394. UniProtKB:Q16394, Gly-339, CHEBI:29958." [PRO:DNx, Reactome:R-HSA-3730910]

organism-sequence


PR:Q16394-1
exostosin-1 isoform 1 (human)
hEXT1/iso:1
"An exostosin-1 isoform 1 that is encoded in the genome of human." [PRO:DNx]