BMP1 Gene Summary [Human]

This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]

Details

Type
Protein Coding
Official Symbol
BMP1
Official Name
bone morphogenetic protein 1 [Source:HGNC Symbol;Acc:HGNC:1067]
Ensembl ID
ENSG00000168487
Bio databases IDs NCBI: 649 Ensembl: ENSG00000168487
Aliases bone morphogenetic protein 1, procollagen C-endopeptidase, tolloid-like
Synonyms bone morphogenetic protein 1, OI13, PCOLC, PCP, PCP2, Procollagen C Proteinase, Tld
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BMP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • procollagen C-endopeptidase
  • metalloprotease domain
  • peptidase
  • Astacin (Peptidase family M12A)
  • Zinc-dependent metalloprotease
  • protein binding
  • identical protein binding
  • EGF-like domain
  • EGF_CA
  • ZnMc
  • protease domain
  • serine endopeptidase
  • CUB
  • EGF domain
  • Coagulation Factor Xa inhibitory site
  • metalloendopeptidase

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • diabetic nephropathy
  • cancer
  • epithelial cancer
  • metastasis
  • breast cancer
  • organismal death
  • neoplasia
  • osteogenesis imperfecta type XIII
  • rheumatoid arthritis
  • glioblastoma
regulated by
regulates
role in cell
  • expression in
  • apoptosis
  • production in
  • differentiation
  • growth
  • organization
  • deposition by
  • molecular cleavage in
  • processing in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • S-layer
  • Cytoplasm
  • vesicles
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BMP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of cartilage development
  • skeletal system development
  • cartilage condensation
  • signal transduction
  • ossification
  • proteolysis
  • cell differentiation
  • protein processing
  • collagen fibril organization
  • dorsal/ventral pattern formation

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • vesicle
  • Golgi apparatus
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • identical protein binding
  • growth factor activity
  • protein binding
  • calcium ion binding
  • serine-type endopeptidase activity
  • peptidase activity
  • cytokine activity
  • metalloendopeptidase activity
  • metallopeptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.