BMP1
entrez
649
canonical
uniprot
P13497
canonical
ensembl
ENSG00000168487
resolver
ensp
ENSP00000305714
resolver
ensp
ENSP00000306121
resolver
genesymbol
BMP1
resolver
genesymbol_syn
PCOLC
resolver
hgnc
HGNC:1067
resolver
uniprot
A8K6F5
resolver
uniprot
B2RN46
resolver
uniprot
D3DSR0
resolver
uniprot
Q13292
resolver
uniprot
Q13872
resolver
uniprot
Q14874
resolver
uniprot
Q99421
resolver
uniprot
Q99422
resolver
uniprot
Q99423
resolver
uniprot
Q9UL38
resolver
uniprot_entry
BMP1_HUMAN
resolver
uniprot_sec
A8K6F5
resolver
uniprot_sec
B2RN46
resolver
uniprot_sec
D3DSR0
resolver
uniprot_sec
Q13292
resolver
uniprot_sec
Q13872
resolver
uniprot_sec
Q14874
resolver
uniprot_sec
Q99421
resolver
uniprot_sec
Q99422
resolver
uniprot_sec
Q99423
resolver
uniprot_sec
Q9UL38
resolver
activity_regulation
ACTIVITY REGULATION: Activity is increased by the procollagen C-endopeptidase enhancer protein.
uniprot
proteins
amino_acid_sequence
MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDEEDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVRENIQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIGQRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVNTFGSYECQCRSGFVLHDNKHDCKEAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFMEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLRFYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHSDDTITKKGFHLRYTSTKFQDTLHSRK
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation 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, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269|PubMed:22052668, ECO:0000269|PubMed:22482805, ECO:0000269|PubMed:25402547}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.19
uniprot
proteins
function
FUNCTION: Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in several developmental and physiological processes such as cartilage and bone formation, muscle growth and homeostasis, wound healing and tissue repair (PubMed:32636307, PubMed:33169406). Roles in ECM formation include cleavage of the C-terminal propeptides from procollagens such as procollagen I, II and III or the proteolytic activation of the enzyme lysyl oxidase LOX, necessary to formation of covalent cross-links in collagen and elastic fibers (PubMed:31152061, PubMed:33206546). Additional substrates include matricellular thrombospondin-1/THBS1 whose cleavage leads to cell adhesion disruption and TGF-beta activation (PubMed:32636307). {ECO:0000269|PubMed:31152061, ECO:0000269|PubMed:32636307, ECO:0000269|PubMed:33169406, ECO:0000269|PubMed:33206546}.; FUNCTION: [Isoform BMP1-3]: Plays an important role in bone repair by acting as a coactivator of BMP7. {ECO:0000269|PubMed:21453682}.
uniprot
proteins
mass_dalton
111249
uniprot
proteins
mutagenesis
MUTAGEN 119..120; /note="RR->AA: Doesn't abolish secretion."; /evidence="ECO:0000269|PubMed:12637569
uniprot
proteins
post_translational_modification
PTM: Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion. {ECO:0000269|PubMed:12637569}.
uniprot
proteins
pubmed
11283002
uniprot
proteins
pubmed
12637569
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18824173
uniprot
proteins
pubmed
21453682
uniprot
proteins
pubmed
22052668
uniprot
proteins
pubmed
22482805
uniprot
proteins
pubmed
25402547
uniprot
proteins
pubmed
31152061
uniprot
proteins
pubmed
3201241
uniprot
proteins
pubmed
32636307
uniprot
proteins
pubmed
33169406
uniprot
proteins
pubmed
33206546
uniprot
proteins
pubmed
7798260
uniprot
proteins
pubmed
8643539
uniprot
proteins
pubmed
9500680
uniprot
proteins
sequence_length
986
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:12637569}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12637569}. Secreted {ECO:0000269|PubMed:33206546}. Note=Co-localizes with POSTN in the Golgi. {ECO:0000250}.; SUBCELLULAR LOCATION: [Isoform BMP1-3]: Secreted {ECO:0000269|PubMed:21453682}.
uniprot
proteins