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Protein Ontology Report - COMP

PR:000000085 - http://purl.obolibrary.org/obo/PR_000000085
Ontology Information
PRO ID PR:000000085 Show OBO stanza / PAF
PRO name cartilage oligomeric matrix protein
Synonyms
PRO-short-label: EXACT: COMP
Other: EXACT: TSP5 | thrombospondin-5
Definition A thrombospondin subgroup B that is a translation product of the human COMP gene or a 1:1 ortholog thereof. [PRO:CNA]
PRO Category gene
Parent PR:000000030 thrombospondin subgroup B
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 3
sequence 1 organism-sequence 36
modification 2 organism-modification 3
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape

Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
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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