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Protein Ontology report - thrombospondin subgroup B
PR:000000030 - http://purl.obolibrary.org/obo/PR_000000030
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF
  PRO ID
PR:000000030   
  PRO namethrombospondin subgroup B 
  Definition"A protein that has a core domain composition consisting of three or four EGF-type repeats, a series of seven contiguous calcium-binding repeats (the thrombospondin type 3 repeats), and a globular carboxyl-terminal domain." [PMID:10842357
  PRO Categoryfamily 
  ParentPR:000000001 protein
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Family1                                                  Organism-Family 0                                        
         Gene3                                                  Organism-Gene 10                                        
         Sequence3                                                  Organism-Sequence 41                                        
         Modification7                                                  Organism-Modification 13                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
PIRSF:PIRSF002479
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Protein Forms  Switch to Extended View   

Category  

PRO Form Name

Ann. Has Annotation?

Comp. In Complex?
family



PR:000000030 thrombospondin subgroup B, NOG

Yes

gene



PR:000000085 cartilage oligomeric matrix protein, COMP


organism-gene



PR:P35444 cartilage oligomeric matrix protein (rat), rCOMP


organism-gene



PR:P49747 cartilage oligomeric matrix protein (human), hCOMP


organism-sequence



PR:000000231 cartilage oligomeric matrix protein sequence variant P276R (human), hCOMP/var:P276R

Yes

organism-sequence



PR:000000232 cartilage oligomeric matrix protein sequence variant C387G (human), hCOMP/var:C387G

Yes

organism-sequence



PR:000000233 cartilage oligomeric matrix protein sequence variant D408Y (human), hCOMP/var:D408Y

Yes

organism-sequence



PR:000000234 cartilage oligomeric matrix protein sequence variant D420A (human), hCOMP/var:D420A

Yes

organism-sequence



PR:000000235 cartilage oligomeric matrix protein sequence variant G440E (human), hCOMP/var:G440E

Yes

organism-sequence



PR:000000236 cartilage oligomeric matrix protein sequence variant G440R (human), hCOMP/var:G440R

Yes

organism-sequence



PR:000000237 cartilage oligomeric matrix protein sequence variant N453S (human), hCOMP/var:N453S

Yes

organism-sequence



PR:000000238 cartilage oligomeric matrix protein sequence variant D439V (human), hCOMP/var:D439V

Yes

organism-sequence



PR:000000239 cartilage oligomeric matrix protein sequence variant C468Y (human), hCOMP/var:C468Y

Yes

organism-sequence



PR:000000240 cartilage oligomeric matrix protein sequence variant D472Y (human), hCOMP/var:D472Y

Yes

organism-sequence



PR:000000241 cartilage oligomeric matrix protein sequence variant D473G (human), hCOMP/var:D473G

Yes

organism-sequence



PR:000000242 cartilage oligomeric matrix protein sequence variant D290N (human), hCOMP/var:D290N

Yes

organism-sequence



PR:000000243 cartilage oligomeric matrix protein sequence variant D482G (human), hCOMP/var:D482G

Yes

organism-sequence



PR:000000244 cartilage oligomeric matrix protein sequence variant D518N (human), hCOMP/var:D518N

Yes

organism-sequence



PR:000000245 cartilage oligomeric matrix protein sequence variant G719D (human), hCOMP/var:G719D

Yes

organism-sequence



PR:000000246 cartilage oligomeric matrix protein sequence variant N523K (human), hCOMP/var:N523K

Yes

organism-sequence



PR:000000247 cartilage oligomeric matrix protein sequence variant T585M (human), hCOMP/var:T585M

Yes

organism-sequence



PR:000000248 cartilage oligomeric matrix protein sequence variant T585R (human), hCOMP/var:T585R

Yes

organism-sequence



PR:000000249 cartilage oligomeric matrix protein sequence variant 26 (human), hCOMP/var:26

Yes

organism-sequence



PR:000000250 cartilage oligomeric matrix protein sequence variant D372del (human), hCOMP/var:D372del

Yes

organism-sequence



PR:000000251 cartilage oligomeric matrix protein sequence variant D374del (human), hCOMP/var:D374del

Yes

organism-sequence



PR:000000252 cartilage oligomeric matrix protein sequence variant S459del (human), hCOMP/var:S459del

Yes

organism-sequence



PR:000000253 cartilage oligomeric matrix protein sequence variant G299R (human), hCOMP/var:G299R

Yes

organism-sequence



PR:000000254 cartilage oligomeric matrix protein sequence variant D469del (human), hCOMP/var:D469del

Yes

organism-sequence



PR:000000255 cartilage oligomeric matrix protein sequence variant D473del (human), hCOMP/var:D473del

Yes

organism-sequence



PR:000000256 cartilage oligomeric matrix protein sequence variant 32 (human), hCOMP/var:32

Yes

organism-sequence



PR:000000257 cartilage oligomeric matrix protein sequence variant 33 (human), hCOMP/var:33

Yes

organism-sequence



PR:000000258 cartilage oligomeric matrix protein sequence variant C328R (human), hCOMP/var:C328R

Yes

organism-sequence



PR:000000259 cartilage oligomeric matrix protein sequence variant D342Y (human), hCOMP/var:D342Y

Yes

organism-sequence



PR:000000260 cartilage oligomeric matrix protein sequence variant C348R (human), hCOMP/var:C348R

Yes

organism-sequence



PR:000000261 cartilage oligomeric matrix protein sequence variant D361V (human), hCOMP/var:D361V

Yes

organism-sequence



PR:000000262 cartilage oligomeric matrix protein sequence variant D361Y (human), hCOMP/var:D361Y

Yes

organism-sequence



PR:000000263 cartilage oligomeric matrix protein sequence variant C371S (human), hCOMP/var:C371S

Yes

organism-sequence



PR:P49747-1 cartilage oligomeric matrix protein isoform 1 (human), hCOMP/iso:1

Yes

organism-modification



PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human), hCOMP/iso:1/SigPep-

Yes

organism-sequence



PR:P49747-2 cartilage oligomeric matrix protein isoform h2 (human), hCOMP/iso:h2


organism-modification



PR:000056586 cartilage oligomeric matrix protein N-glycosylated 1 (human), hCOMP/NGlyco:1


organism-modification



PR:000056587 cartilage oligomeric matrix protein N-glycosylated 2 (human), hCOMP/NGlyco:2


organism-modification



PR:000068189 cartilage oligomeric matrix protein deaminated 1 (human), hCOMP/Deam:1


organism-modification



PR:000073868 cartilage oligomeric matrix protein deaminated 2 (human), hCOMP/Deam:2


organism-gene



PR:Q9R0G6 cartilage oligomeric matrix protein (mouse), mCOMP


organism-sequence



PR:Q9R0G6-1 cartilage oligomeric matrix protein isoform 1 (mouse), mCOMP/iso:1


sequence



PR:000000230 cartilage oligomeric matrix protein isoform 1, COMP/iso:1


organism-sequence



PR:P49747-1 cartilage oligomeric matrix protein isoform 1 (human), hCOMP/iso:1

Yes

organism-modification



PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human), hCOMP/iso:1/SigPep-

Yes

organism-sequence



PR:Q9R0G6-1 cartilage oligomeric matrix protein isoform 1 (mouse), mCOMP/iso:1


modification



PR:000000540 cartilage oligomeric matrix protein isoform 1, signal peptide removed form, COMP/iso:1/SigPep-


organism-modification



PR:000036452 cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human), hCOMP/iso:1/SigPep-

Yes

modification



PR:000025416 cartilage oligomeric matrix protein proteolytic cleavage product, COMP/ClvPrd


gene



PR:000000131 thrombospondin-3, THBS3


organism-gene



PR:P49746 thrombospondin-3 (human), hTHBS3


organism-sequence



PR:P49746-1 thrombospondin-3 isoform 1 (human), hTHBS3/iso:1


organism-sequence



PR:P49746-2 thrombospondin-3 isoform h2 (human), hTHBS3/iso:h2


organism-modification



PR:000049438 thrombospondin-3, signal peptide removed form (human), hTHBS3/SigPep-


organism-modification



PR:000056585 thrombospondin-3 N-glycosylated 1 (human), hTHBS3/NGlyco:1


organism-gene



PR:Q05895 thrombospondin-3 (mouse), mTHBS3


organism-sequence



PR:Q05895-1 thrombospondin-3 isoform 1 (mouse), mTHBS3/iso:1


organism-modification



PR:000036494 thrombospondin-3 isoform 1, signal peptide removed form (mouse), mTHBS3/iso:1/SigPep-

Yes

organism-gene



PR:Q8JHW2 thrombospondin-3a (zebrafish), z-THBS3


sequence



PR:000000378 thrombospondin-3 isoform 1, THBS3/iso:1


organism-sequence



PR:P49746-1 thrombospondin-3 isoform 1 (human), hTHBS3/iso:1


organism-sequence



PR:Q05895-1 thrombospondin-3 isoform 1 (mouse), mTHBS3/iso:1


organism-modification



PR:000036494 thrombospondin-3 isoform 1, signal peptide removed form (mouse), mTHBS3/iso:1/SigPep-

Yes

modification



PR:000000594 thrombospondin-3 isoform 1, signal peptide removed form, THBS3/iso:1/SigPep-


organism-modification



PR:000036494 thrombospondin-3 isoform 1, signal peptide removed form (mouse), mTHBS3/iso:1/SigPep-

Yes

modification



PR:000018284 thrombospondin-3, signal peptide removed form, THBS3/SigPep-


modification



PR:000000594 thrombospondin-3 isoform 1, signal peptide removed form, THBS3/iso:1/SigPep-


organism-modification



PR:000036494 thrombospondin-3 isoform 1, signal peptide removed form (mouse), mTHBS3/iso:1/SigPep-

Yes

organism-modification



PR:000049438 thrombospondin-3, signal peptide removed form (human), hTHBS3/SigPep-


modification



PR:000025439 thrombospondin-3 proteolytic cleavage product, THBS3/ClvPrd


gene



PR:000000132 thrombospondin-4, THBS4


organism-gene



PR:P35443 thrombospondin-4 (human), hTHBS4


organism-sequence



PR:P35443-1 thrombospondin-4 isoform 1 (human), hTHBS4/iso:1


organism-modification



PR:000026337 thrombospondin-4 isoform 1, signal peptide removed form (human), hTHBS4/iso:1/SigPep-

Yes

organism-modification



PR:000056389 thrombospondin-4 O-glycosylated 1 (human), hTHBS4/OGlyco:1


organism-modification



PR:000056390 thrombospondin-4 O-glycosylated 2 (human), hTHBS4/OGlyco:2


organism-modification



PR:000056391 thrombospondin-4 O-glycosylated 3 (human), hTHBS4/OGlyco:3


organism-modification



PR:000056392 thrombospondin-4 O-glycosylated 4 (human), hTHBS4/OGlyco:4


organism-gene



PR:P49744 thrombospondin-4 (rat), rTHBS4


organism-gene



PR:Q8JGW0 thrombospondin-4-B (zebrafish), z-THBS4


organism-gene



PR:Q9Z1T2 thrombospondin-4 (mouse), mTHBS4


organism-sequence



PR:Q9Z1T2-1 thrombospondin-4 isoform 1 (mouse), mTHBS4/iso:1


sequence



PR:000000379 thrombospondin-4 isoform 1, THBS4/iso:1


organism-sequence



PR:P35443-1 thrombospondin-4 isoform 1 (human), hTHBS4/iso:1


organism-modification



PR:000026337 thrombospondin-4 isoform 1, signal peptide removed form (human), hTHBS4/iso:1/SigPep-

Yes

organism-sequence



PR:Q9Z1T2-1 thrombospondin-4 isoform 1 (mouse), mTHBS4/iso:1


modification



PR:000000595 thrombospondin-4 isoform 1, signal peptide removed form, THBS4/iso:1/SigPep-


organism-modification



PR:000026337 thrombospondin-4 isoform 1, signal peptide removed form (human), hTHBS4/iso:1/SigPep-

Yes

modification



PR:000025440 thrombospondin-4 proteolytic cleavage product, THBS4/ClvPrd


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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000030 NOG

"A protein that has a core domain composition consisting of three or four EGF-type repeats, a series of seven contiguous calcium-binding repeats (the thrombospondin type 3 repeats), and a globular carboxyl-terminal domain." [PMID:10842357]
enablesGO:0008201 heparin binding PIRSF:PIRSF002479
PR:000000231 hCOMP/var:P276R
UniProtKB:P49747, Pro-276, CHEBI:29952 | UniProtKB:P49747-1, Pro-276, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 1 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Pro-276 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Pro-276, CHEBI:29952." [PMID:11565064, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:11565064
PR:000000232 hCOMP/var:C387G
UniProtKB:P49747, Cys-387, CHEBI:29947 | UniProtKB:P49747-1, Cys-387, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 10 (human)
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Cys-387 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-387, CHEBI:29947." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007625
PR:000000233 hCOMP/var:D408Y
UniProtKB:P49747, Asp-408, CHEBI:46858 | UniProtKB:P49747-1, Asp-408, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 11 (human)
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-408 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-408, CHEBI:46858." [PMID:9452026, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:9452026
PR:000000234 hCOMP/var:D420A
UniProtKB:P49747, Asp-420, CHEBI:46217 | UniProtKB:P49747-1, Asp-420, CHEBI:46217 | cartilage oligomeric matrix protein sequence variant 12 (human)
"A cartilage oligomeric matrix protein (human) that has an Ala residue at the position equivalent to Asp-420 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-420, CHEBI:46217." [PMID:11565064, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:11565064
PR:000000235 hCOMP/var:G440E
UniProtKB:P49747, Gly-440, CHEBI:29972 | UniProtKB:P49747-1, Gly-440, CHEBI:29972 | cartilage oligomeric matrix protein sequence variant 13 (human)
"A cartilage oligomeric matrix protein (human) that has a Glu residue at the position equivalent to Gly-440 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-440, CHEBI:29972." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007628
PR:000000236 hCOMP/var:G440R
UniProtKB:P49747, Gly-440, CHEBI:29952 | UniProtKB:P49747-1, Gly-440, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 14 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Gly-440 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-440, CHEBI:29952." [PMID:9452026, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:9452026
PR:000000237 hCOMP/var:N453S
UniProtKB:P49747, Asn-453, CHEBI:29999 | UniProtKB:P49747-1, Asn-453, CHEBI:29999 | cartilage oligomeric matrix protein sequence variant 15 (human)
"A cartilage oligomeric matrix protein (human) that has a Ser residue at the position equivalent to Asn-453 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-453, CHEBI:29999." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007630
PR:000000238 hCOMP/var:D439V
UniProtKB:P49747, Asp-439, CHEBI:30015 | UniProtKB:P49747-1, Asp-439, CHEBI:30015 | cartilage oligomeric matrix protein sequence variant 16 (human)
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-439, CHEBI:30015." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007618
PR:000000239 hCOMP/var:C468Y
UniProtKB:P49747, Cys-468, CHEBI:46858 | UniProtKB:P49747-1, Cys-468, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 17 (human)
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Cys-468 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-468, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:7670471; PMID:9452026
PR:000000240 hCOMP/var:D472Y
UniProtKB:P49747, Asp-472, CHEBI:46858 | UniProtKB:P49747-1, Asp-472, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 18 (human)
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-472 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-472, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:7670471; PMID:9452026
PR:000000241 hCOMP/var:D473G
UniProtKB:P49747, Asp-473, CHEBI:29947 | UniProtKB:P49747-1, Asp-473, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 19 (human)
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-473 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-473, CHEBI:29947." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007635
PR:000000242 hCOMP/var:D290N
UniProtKB:P49747, Asp-290, CHEBI:50347 | UniProtKB:P49747-1, Asp-290, CHEBI:50347 | cartilage oligomeric matrix protein sequence variant 2 (human)
"A cartilage oligomeric matrix protein (human) that has an Asn residue at the position equivalent to Asp-290 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-290, CHEBI:50347." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007614
PR:000000243 hCOMP/var:D482G
UniProtKB:P49747, Asp-482, CHEBI:29947 | UniProtKB:P49747-1, Asp-482, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 20 (human)
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-482 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-482, CHEBI:29947." [PMID:9452063, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:9452063
PR:000000244 hCOMP/var:D518N
UniProtKB:P49747, Asp-518, CHEBI:50347 | UniProtKB:P49747-1, Asp-518, CHEBI:50347 | cartilage oligomeric matrix protein sequence variant 21 (human)
"A cartilage oligomeric matrix protein (human) that has an Asn residue at the position equivalent to Asp-518 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-518, CHEBI:50347." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007639
PR:000000245 hCOMP/var:G719D
UniProtKB:P49747, Gly-719, CHEBI:29958 | UniProtKB:P49747-1, Gly-719, CHEBI:29958 | cartilage oligomeric matrix protein sequence variant 22 (human)
"A cartilage oligomeric matrix protein (human) that has an Asp residue at the position equivalent to Gly-719 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-719, CHEBI:29958." [PMID:11746044, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:11746044
PR:000000246 hCOMP/var:N523K
UniProtKB:P49747, Asn-523, CHEBI:29967 | UniProtKB:P49747-1, Asn-523, CHEBI:29967 | cartilage oligomeric matrix protein sequence variant 23 (human)
"A cartilage oligomeric matrix protein (human) that has a Lys residue at the position equivalent to Asn-523 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-523, CHEBI:29967." [PMID:9021009, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:9021009
PR:000000247 hCOMP/var:T585M
UniProtKB:P49747, Thr-585, CHEBI:16044 | UniProtKB:P49747-1, Thr-585, CHEBI:16044 | cartilage oligomeric matrix protein sequence variant 24 (human)
"A cartilage oligomeric matrix protein (human) that has a Met residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:16044." [PMID:11565064, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:11565064
DO:12721 multiple epiphyseal dysplasia PMID:11565064
PR:000000248 hCOMP/var:T585R
UniProtKB:P49747, Thr-585, CHEBI:29952 | UniProtKB:P49747-1, Thr-585, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 25 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:29952." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007642
PR:000000249 hCOMP/var:26

"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to region 391-394 of the amino acid sequence represented by UniProtKB:P49747-1." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007626
PR:000000250 hCOMP/var:D372del
UniProtKB:P49747, 21-371, 373-757 | UniProtKB:P49747-1, 21-371, 373-757 | cartilage oligomeric matrix protein sequence variant 27 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-372 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-371, 373-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007623
PR:000000251 hCOMP/var:D374del
UniProtKB:P49747, 21-373, 375-757 | UniProtKB:P49747-1, 21-373, 375-757 | cartilage oligomeric matrix protein sequence variant 28 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-374 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-373, 375-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007624
PR:000000252 hCOMP/var:S459del
UniProtKB:P49747, 21-458, 460-757 | UniProtKB:P49747-1, 21-458, 460-757 | cartilage oligomeric matrix protein sequence variant 29 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Ser-459 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-458, 460-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007631
PR:000000253 hCOMP/var:G299R
UniProtKB:P49747, Gly-299, CHEBI:29952 | UniProtKB:P49747-1, Gly-299, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 3 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Gly-299 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-299, CHEBI:29952." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007615
PR:000000254 hCOMP/var:D469del
UniProtKB:P49747, 21-468, 470-757 | UniProtKB:P49747-1, 21-468, 470-757 | cartilage oligomeric matrix protein sequence variant 30 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-469 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-468, 470-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007633
PR:000000255 hCOMP/var:D473del
UniProtKB:P49747, 21-472, 474-757 | UniProtKB:P49747-1, 21-472, 474-757 | cartilage oligomeric matrix protein sequence variant 31 (human)
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-473 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-472, 474-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007636
PR:000000256 hCOMP/var:32
UniProtKB:P49747, 21-366, 369-757 | UniProtKB:P49747-1, 21-366, 369-757
"A cartilage oligomeric matrix protein (human) that has a two-residue deletion at the positions equivalent to region 367-368 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-366, 369-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007621
PR:000000257 hCOMP/var:33
UniProtKB:P49747, 21-512, 517-757 | UniProtKB:P49747-1, 21-512, 517-757
"A cartilage oligomeric matrix protein (human) that has a four-residue deletion at the positions equivalent to region 513-516 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-512, 517-757." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007638
PR:000000258 hCOMP/var:C328R
UniProtKB:P49747, Cys-328, CHEBI:29952 | UniProtKB:P49747-1, Cys-328, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 4 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-328 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-328, CHEBI:29952." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia UniProtKB_VAR:VAR_007616
PR:000000259 hCOMP/var:D342Y
UniProtKB:P49747, Asp-342, CHEBI:46858 | UniProtKB:P49747-1, Asp-342, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 5 (human)
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-342 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-342, CHEBI:46858." [PMID:7670472, PMID:9452026, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:7670472; PMID:9452026
PR:000000260 hCOMP/var:C348R
UniProtKB:P49747, Cys-348, CHEBI:29952 | UniProtKB:P49747-1, Cys-348, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 6 (human)
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-348 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-348, CHEBI:29952." [PMID:11746045, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:0080047 pseudoachondroplasia PMID:11746045
PR:000000261 hCOMP/var:D361V
UniProtKB:P49747, Asp-361, CHEBI:30015 | UniProtKB:P49747-1, Asp-361, CHEBI:30015 | cartilage oligomeric matrix protein sequence variant 7 (human)
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to Asp-361 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-361, CHEBI:30015." [PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia UniProtKB_VAR:VAR_007619
PR:000000262 hCOMP/var:D361Y
UniProtKB:P49747, Asp-361, CHEBI:46858 | UniProtKB:P49747-1, Asp-361, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 8 (human)
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-361 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-361, CHEBI:46858." [PMID:9452027, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:9452026
PR:000000263 hCOMP/var:C371S
UniProtKB:P49747, Cys-371, CHEBI:29999 | UniProtKB:P49747-1, Cys-371, CHEBI:29999 | cartilage oligomeric matrix protein sequence variant 9 (human)
"A cartilage oligomeric matrix protein (human) that has a Ser residue at the position equivalent to Cys-371 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-371, CHEBI:29999." [PMID:9184241, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:12721 multiple epiphyseal dysplasia PMID:9184241
PR:000026337 hTHBS4/iso:1/SigPep-
UniProtKB:P35443-1, 27-961 | PRO_0000035852
"A thrombospondin-4 isoform 1, signal peptide removed form in human. UniProtKB:P35443-1, 27-961." [PRO:DNx, UniProtKB:P35443]
acts_upstream_of_or_withinGO:0006930 substrate-dependent cell migration, cell extension PMID:7490284
enablesGO:0005509 calcium ion binding PMID:7852353
GO:0008201 heparin binding PMID:7852353
located_inGO:0031012 extracellular matrix PMID:7490284
PR:000036452 hCOMP/iso:1/SigPep-
UniProtKB:P49747-1, 21-757 | PRO_0000035857
"A cartilage oligomeric matrix protein isoform 1, signal peptide removed form in human. UniProtKB:P49747-1, 21-757." [PMID:7670472, PMID:7713493, PMID:9749943, PRO:CNA]
acts_upstream_of_or_withinGO:0009887 animal organ morphogenesis PMID:7713493
enablesGO:0005201 extracellular matrix structural constituent PMID:9749943
GO:0005509 calcium ion binding PMID:7670472
located_inGO:0031012 extracellular matrix PMID:9749943
PR:000036494 mTHBS3/iso:1/SigPep-
UniProtKB:Q05895-1, 22-956 | PRO_0000035850
"A thrombospondin-3 isoform 1, signal peptide removed form in mouse. UniProtKB:Q05895-1, 22-956." [PMID:7759526, PMID:8288588, PMID:8468055, PRO:CNA]
acts_upstream_of_or_withinGO:0007160 cell-matrix adhesion PMID:8468055
enablesGO:0005509 calcium ion binding PMID:8288588
GO:0008201 heparin binding PMID:8288588
GO:0042802 identical protein binding PMID:7759526
located_inGO:0005615 extracellular space PMID:8288588
PR:P49747-1 hCOMP/iso:1

"A cartilage oligomeric matrix protein isoform 1 that is encoded in the genome of human." [PRO:CNA]
acts_upstream_of_or_withinGO:0001501 skeletal system development PMID:7670472
GO:0009887 animal organ morphogenesis PMID:7713493