InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BMP1

Summary

InnateDB Protein

IDBP-475146.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BMP1

Protein Name

bone morphogenetic protein 1

Synonyms

OI13; PCOLC; PCP; PCP2; TLD;

Species

Homo sapiens

Ensembl Protein

ENSP00000430406

InnateDB Gene

IDBG-10398 (BMP1)

Protein Structure

UniProt Annotation

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.

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}.

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.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

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]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004222	metalloendopeptidase activity
GO:0005125	cytokine activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0008083	growth factor activity
GO:0008233	peptidase activity
GO:0008237	metallopeptidase activity
GO:0008270	zinc ion binding

Biological Process

GO:0001501	skeletal system development
GO:0001502	cartilage condensation
GO:0001503	ossification
GO:0006508	proteolysis
GO:0007275	multicellular organismal development
GO:0022617	extracellular matrix disassembly
GO:0030154	cell differentiation
GO:0030198	extracellular matrix organization
GO:0042157	lipoprotein metabolic process
GO:0044281	small molecule metabolic process
GO:0061036	positive regulation of cartilage development

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005794	Golgi apparatus

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR000859 CUB domain
IPR001506 Peptidase M12A, astacin
IPR001881 EGF-like calcium-binding domain
IPR006026 Peptidase, metallopeptidase
IPR015446 Bone morphogenetic protein 1/tolloid-like protein

PFAM

PF00008
PF00431
PF01400
PF07645

PRINTS

PR00480

PIRSF

PIRSF001199

SMART

SM00181
SM00042
SM00179
SM00235

TIGRFAMs

Post-translational Modifications

Modification

Cross-References