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Gene id 1311
Gene Summary    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol COMP   Gene   UCSC   Ensembl
Aliases EDM1, EPD1, MED, PSACH, THBS5, TSP5
Gene name cartilage oligomeric matrix protein
Alternate names cartilage oligomeric matrix protein, cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple), pseudoachondroplasia (epiphyseal dysplasia 1, multiple), thrombospondin-5,
Gene location 19p13.11 (18791304: 18782772)     Exons: 19     NC_000019.10
Gene summary(Entrez) The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a
OMIM 613012

Protein Summary

Protein general information P49747  

Name: Cartilage oligomeric matrix protein (COMP) (Thrombospondin 5) (TSP5)

Length: 757  Mass: 82860

Tissue specificity: Abundantly expressed in the chondrocyte extracellular matrix, and is also found in bone, tendon, ligament and synovium and blood vessels. Increased amounts are produced during late stages of osteoarthritis in the area adjacent to the m

Sequence MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAALQDVRELLRQQVREITFLKNTVMECDACGMQ
QSVRTGLPSVRPLLHCAPGFCFPGVACIQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFR
CEACPPGYSGPTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQASGCQRRA
QRFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFPDEKLRCPERQCRKDNCVTVPNSGQ
EDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNPDQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDI
DGDRIRNQADNCPRVPNSDQKDSDGDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPT
VPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDFDADKVVDKIDVCPENAE
VTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNSDPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFI
FGYQDSSSFYVVMWKQMEQTYWQANPFRAVAEPGIQLKAVKSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVG
WKDKKSYRWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYRCNDTIPEDYE
THQLRQA
Structural information
Protein Domains
(87..12-)
(/note="EGF-like-1)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
(127..17-)
(/note="EGF-like-)
(-)
(/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
(180..22-)
(/note="EGF-like-)
(-)
(/evid-)
Interpro:  IPR013320  IPR001881  IPR013032  IPR000742  IPR018097  
IPR009030  IPR024665  IPR003367  IPR017897  IPR008859  IPR028492  IPR039081  IPR028974  
Prosite:   PS01186 PS50026 PS01187 PS51234 PS51236
CDD:   cd16077

PDB:  
3FBY
PDBsum:   3FBY
STRING:   ENSP00000222271
Other Databases GeneCards:  COMP  Malacards:  COMP

Gene ontology

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GO accessionTerm nameEvidence codeGo category
GO:0062023 collagen-containing extra
cellular matrix
IBA cellular component
GO:0043066 negative regulation of ap
optotic process
IDA biological process
GO:0005509 calcium ion binding
IDA molecular function
GO:0005509 calcium ion binding
IDA molecular function
GO:0060173 limb development
IDA biological process
GO:0043395 heparan sulfate proteogly
can binding
IDA molecular function
GO:0008201 heparin binding
IDA molecular function
GO:0005518 collagen binding
IDA molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005509 calcium ion binding
IEA molecular function
GO:0005576 extracellular region
IEA cellular component
GO:0007155 cell adhesion
IEA biological process
GO:0005576 extracellular region
IEA cellular component
GO:0007155 cell adhesion
IEA biological process
GO:0008201 heparin binding
IEA molecular function
GO:0006915 apoptotic process
IEA biological process
GO:0005201 extracellular matrix stru
ctural constituent
TAS molecular function
GO:0005509 calcium ion binding
TAS molecular function
GO:0001501 skeletal system developme
nt
TAS biological process
GO:0031012 extracellular matrix
TAS cellular component
GO:0009887 animal organ morphogenesi
s
TAS biological process
GO:0043394 proteoglycan binding
IDA molecular function
GO:0030198 extracellular matrix orga
nization
TAS biological process
GO:0005576 extracellular region
TAS cellular component
GO:0005576 extracellular region
TAS cellular component
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0005515 protein binding
IPI molecular function
GO:0051216 cartilage development
IEA biological process
GO:0050905 neuromuscular process
IEA biological process
GO:0036122 BMP binding
IEA molecular function
GO:0035989 tendon development
IEA biological process
GO:0032991 protein-containing comple
x
IEA cellular component
GO:0016485 protein processing
IEA biological process
GO:0014829 vascular smooth muscle co
ntraction
IEA biological process
GO:0007596 blood coagulation
IEA biological process
GO:0006986 response to unfolded prot
ein
IEA biological process
GO:0005615 extracellular space
IEA cellular component
GO:0003417 growth plate cartilage de
velopment
IEA biological process
GO:0003416 endochondral bone growth
IEA biological process
GO:0002063 chondrocyte development
IEA biological process
GO:0001503 ossification
IEA biological process
GO:0001501 skeletal system developme
nt
IEA biological process
GO:1902732 positive regulation of ch
ondrocyte proliferation
IEA biological process
GO:1900047 negative regulation of he
mostasis
IEA biological process
GO:0098868 bone growth
IEA biological process
GO:0097084 vascular smooth muscle ce
ll development
IEA biological process
GO:0070527 platelet aggregation
IEA biological process
GO:0060349 bone morphogenesis
IEA biological process
GO:0060173 limb development
IEA biological process
GO:0050881 musculoskeletal movement
IEA biological process
GO:0048844 artery morphogenesis
IEA biological process
GO:0048747 muscle fiber development
IEA biological process
GO:0043588 skin development
IEA biological process
GO:0035988 chondrocyte proliferation
IEA biological process
GO:0035264 multicellular organism gr
owth
IEA biological process
GO:0030509 BMP signaling pathway
IEA biological process
GO:0030500 regulation of bone minera
lization
IEA biological process
GO:0030282 bone mineralization
IEA biological process
GO:0030199 collagen fibril organizat
ion
IEA biological process
GO:0010468 regulation of gene expres
sion
IEA biological process
GO:0010260 animal organ senescence
IEA biological process
GO:0010259 multicellular organism ag
ing
IEA biological process
GO:0009306 protein secretion
IEA biological process
GO:0006915 apoptotic process
IEA biological process
GO:0005178 integrin binding
IEA molecular function
GO:0002020 protease binding
IEA molecular function
GO:0002020 protease binding
IPI molecular function
GO:0002020 protease binding
IPI molecular function
GO:0005201 extracellular matrix stru
ctural constituent
RCA molecular function
GO:0005615 extracellular space
HDA cellular component
GO:0062023 collagen-containing extra
cellular matrix
HDA colocalizes with
GO:0005576 extracellular region
HDA cellular component
GO:0070062 extracellular exosome
HDA cellular component

KEGG pathways

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Pathway idPathway name
hsa04151PI3K-Akt signaling pathway
hsa05165Human papillomavirus infection
hsa04510Focal adhesion
hsa04145Phagosome
hsa04512ECM-receptor interaction
hsa05144Malaria
Associated diseases References
Multiple epiphyseal dysplasia KEGG:H00476
Pseudoachondroplasia KEGG:H00477
Multiple epiphyseal dysplasia KEGG:H00476
Pseudoachondroplasia KEGG:H00477
Osteochondrodysplasia PMID:7670472
Cryptorchidism MIK: 28606200
Spermatogenic defects MIK: 31037746

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract