InnateDB Protein
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IDBP-234454.7
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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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BMP1
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Protein Name
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bone morphogenetic protein 1
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Synonyms
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OI13; PCOLC; PCP; PCP2; TLD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380915
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InnateDB Gene
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IDBG-10398 (BMP1)
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Protein Structure
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Function |
Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX.
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Subcellular Localization |
Golgi apparatus, trans-Golgi network {ECO:0000269PubMed:12637569}. Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:12637569}. Note=Co- localizes with POSTN in the Golgi. {ECO:0000250}.
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Disease Associations |
Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive 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. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269PubMed:22052668, ECO:0000269PubMed:22482805}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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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 11 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[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 |
2 [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 |
IPR001506
Peptidase M12A, astacin
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PFAM |
PF01400
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PRINTS |
PR00480
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P13497
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PhosphoSite |
PhosphoSite-P13497
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TrEMBL |
B7ZKR5
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UniProt Splice Variant |
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Entrez Gene |
649
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UniGene |
Hs.1274
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RefSeq |
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HUGO |
HGNC:1067
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OMIM |
112264
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CCDS |
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HPRD |
00209
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IMGT |
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EMBL |
AC105206
AK291620
BC136679
BC143338
CH471080
L35278
L35279
M22488
U50330
Y08723
Y08724
Y08725
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GenPept |
AAA51833
AAA93462
AAC41703
AAC41710
AAI36680
AAI43339
BAF84309
CAA69973
CAA69974
CAA69975
EAW63698
EAW63703
EAW63704
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