InnateDB Protein
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IDBP-597613.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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SERPINH1
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Protein Name
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serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
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Synonyms
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AsTP3; CBP1; CBP2; gp46; HSP47; OI10; PPROM; RA-A47; SERPINH2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000434412
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InnateDB Gene
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IDBG-64909 (SERPINH1)
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Protein Structure
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Function |
Binds specifically to collagen. Could be involved as a chaperone in the biosynthetic pathway of collagen.
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Subcellular Localization |
Endoplasmic reticulum lumen.
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Disease Associations |
Osteogenesis imperfecta 10 (OI10) [MIM:613848]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI10 is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclerae. {ECO:0000269PubMed:20188343}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 79 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
79
[view]
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Protein-Protein |
79
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR023796
Serpin domain
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PFAM |
PF00079
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PRINTS |
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PIRSF |
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SMART |
SM00093
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TIGRFAMs |
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Modification |
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SwissProt |
P50454
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PhosphoSite |
PhosphoSite-P50454
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TrEMBL |
Q9NPA9
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UniProt Splice Variant |
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Entrez Gene |
871
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UniGene |
Hs.628639
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RefSeq |
XP_006718790
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HUGO |
HGNC:1546
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OMIM |
600943
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CCDS |
CCDS8239
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HPRD |
02968
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IMGT |
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EMBL |
AB044778
AB044779
AB044780
AB044781
AK122936
AK297811
AP001922
AP002815
AY264853
AY744367
BC014623
BC036298
BC070087
BT007094
CH471076
D83174
X61598
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GenPept |
AAH14623
AAH36298
AAH70087
AAP35758
AAP93914
AAU95378
BAA11829
BAA96788
BAA96789
BAA96790
BAA96791
BAG53805
BAG60149
CAA43795
EAW74974
EAW74975
EAW74977
EAW74979
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