Entity Details

Primary name BMP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP13497
EntryNameBMP1_HUMAN
FullNameBone morphogenetic protein 1
TaxID9606
Evidenceevidence at protein level
Length986
SequenceStatuscomplete
DateCreated1990-01-01
DateModified2021-06-02

Ontological Relatives

GenesBMP1

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0004222 metalloendopeptidase activity
GO:0005125 cytokine activity
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0006508 proteolysis
GO:0007275 multicellular organism development
GO:0008083 growth factor activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0030199 collagen fibril organization
GO:0031982 vesicle
GO:0034380 high-density lipoprotein particle assembly
GO:0042802 identical protein binding
GO:0061036 positive regulation of cartilage development

Subcellular Location

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Subcellular Location
Golgi apparatus
Secreted

Domains

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DomainNameCategoryType
IPR000152 EGF-type aspartate/asparagine hydroxylation sitePTMPTM
IPR000742 EGF-like domainDomainDomain
IPR000859 CUB domainDomainDomain
IPR001506 Peptidase M12ADomainDomain
IPR001881 EGF-like calcium-binding domainDomainDomain
IPR006026 Peptidase, metallopeptidaseDomainDomain
IPR009030 Growth factor receptor cysteine-rich domain superfamilyFamilyHomologous superfamily
IPR015446 Bone morphogenetic protein 1/tolloid-like proteinFamilyFamily
IPR018097 EGF-like calcium-binding, conserved siteSiteConserved site
IPR024079 Metallopeptidase, catalytic domain superfamilyFamilyHomologous superfamily
IPR029837 Bone morphogenetic protein 1FamilyFamily
IPR034036 Tolloid/BMP1 peptidase domainDomainDomain
IPR035914 Spermadhesin, CUB domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614856 OMIMOsteogenesis imperfecta 13 (OI13)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. The disease is caused by variants affecting the gene represented in this entry.