Protein Ontology Report - hCOMP PR:P49747 - http://purl.obolibrary.org/obo/PR_P49747

This page represents a class of proteins encompassing all the protein products of the COMP gene in Homo sapiens.

Ontology Information
PRO ID	PR:P49747 Show OBO stanza / PAF / GPI
PRO name	cartilage oligomeric matrix protein (human)
Synonyms	PRO-short-label: EXACT: hCOMP Gene-based: RELATED: COMP Other: EXACT: TSP5 (human) | thrombospondin-5 (human)
Definition	A cartilage oligomeric matrix protein that is encoded in the genome of human. [PRO:CNA, UniProtKB:P49747]
PRO Category	organism-gene
Parent	PR:000000085 cartilage oligomeric matrix protein
Gene Template	HGNC:2227 COMP
Taxon	NCBITaxon:9606 Homo sapiens
Terms by PRO Category	Retrieve All terms OBO Stanza / PAF Organism-Specific Category Number of Terms organism-gene 1 organism-sequence 35 organism-modification 3
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	UniProtKB:P49747

Interactive Sequence View Select/align proteoforms across species

Protein Forms Display Category: All All organism-gene organism-sequence organism-modification
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View

PRO Term GO Annotation Evidence PR:000000259 hCOMP/var:D342Y Asp-342, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:7670472, PMID:9452026 PR:000000258 hCOMP/var:C328R Cys-328, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007616 PR:000000251 hCOMP/var:D374del associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007624 PR:000000250 hCOMP/var:D372del associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007623 PR:000000253 hCOMP/var:G299R Gly-299, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007615 PR:000000252 hCOMP/var:S459del associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007631 PR:000000255 hCOMP/var:D473del associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007636 PR:000000254 hCOMP/var:D469del associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007633 PR:000000257 hCOMP/var:33 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007638 PR:000000256 hCOMP/var:32 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007621 PR:000000239 hCOMP/var:C468Y Cys-468, CHEBI:46858 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:7670471, PMID:9452026 PR:000000238 hCOMP/var:D439V Asp-439, CHEBI:30015 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007618 PR:000000237 hCOMP/var:N453S Asn-453, CHEBI:29999 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007630 PR:000000236 hCOMP/var:G440R Gly-440, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:9452026 PR:000000235 hCOMP/var:G440E Gly-440, CHEBI:29972 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007628 PR:000000234 hCOMP/var:D420A Asp-420, CHEBI:46217 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 PR:000000233 hCOMP/var:D408Y Asp-408, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9452026 PR:000000232 hCOMP/var:C387G Cys-387, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007625 PR:000000231 hCOMP/var:P276R Pro-276, CHEBI:29952 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 PR:000036452 hCOMP/iso:1/SigPep- acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:7713493 enables GO:0005509 calcium ion binding PMID:7670472 enables GO:0005201 extracellular matrix structural constituent PMID:9749943 located_in GO:0031012 extracellular matrix PMID:9749943 PR:000000248 hCOMP/var:T585R Thr-585, CHEBI:29952 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007642 PR:000000249 hCOMP/var:26 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007626 PR:000000246 hCOMP/var:N523K Asn-523, CHEBI:29967 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9021009 PR:000000247 hCOMP/var:T585M Thr-585, CHEBI:16044 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11565064 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:11565064 PR:000000244 hCOMP/var:D518N Asp-518, CHEBI:50347 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007639 PR:000000245 hCOMP/var:G719D Gly-719, CHEBI:29958 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746044 PR:000000242 hCOMP/var:D290N Asp-290, CHEBI:50347 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007614 PR:000000243 hCOMP/var:D482G Asp-482, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:9452063 PR:000000240 hCOMP/var:D472Y Asp-472, CHEBI:46858 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:7670471, PMID:9452026 PR:000000241 hCOMP/var:D473G Asp-473, CHEBI:29947 associated_with_disease_progression DOID:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007635 PR:000000260 hCOMP/var:C348R Cys-348, CHEBI:29952 associated_with_disease_progression DOID:0080047 pseudoachondroplasia PMID:11746045 PR:000000261 hCOMP/var:D361V Asp-361, CHEBI:30015 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007619 PR:000000262 hCOMP/var:D361Y Asp-361, CHEBI:46858 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9452026 PR:000000263 hCOMP/var:C371S Cys-371, CHEBI:29999 associated_with_disease_progression DOID:12721 multiple epiphyseal dysplasia PMID:9184241 PR:P49747-1 hCOMP/iso:1 acts_upstream_of_or_within GO:0001501 skeletal system development PMID:7670472 acts_upstream_of_or_within GO:0009887 animal organ morphogenesis PMID:7713493 Cellular Location GO Term Protein Forms & Complexes Evidence GO:0031012 extracellular matrix PR:000036452 hCOMP/iso:1/SigPep- PMID:9749943

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