Bmp1 bone morphogenetic protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bmp1provided by MGI
Official Full Name: bone morphogenetic protein 1provided by MGI
Primary source: MGI:MGI:88176
See related: Ensembl:ENSMUSG00000022098 AllianceGenome:MGI:88176
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Pcp; Tld
Summary: This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Expression: Ubiquitous expression in limb E14.5 (RPKM 81.0), ovary adult (RPKM 50.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D2; 14 36.32 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (70711998..70758280, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (70474555..70520716, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1[+/-] mouse model of craniosynostosis.
Title: Periostin/Bone Morphogenetic Protein 1 axis axis regulates proliferation and osteogenic differentiation of sutured mesenchymal stem cells and affects coronal suture closure in the TWIST1(+/-) mouse model of craniosynostosis.
Activated hepatic stellate cell-derived Bmp-1 induces liver fibrosis via mediating hepatocyte epithelial-mesenchymal transition.
Title: Activated hepatic stellate cell-derived Bmp-1 induces liver fibrosis via mediating hepatocyte epithelial-mesenchymal transition.
Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases.
Title: Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases.
Long noncoding RNA Bmp1 modulates PHF6 expression by sponging miR-128-3p to protect intestinal mucosal in burned mice.
Title: Long noncoding RNA Bmp1 modulates PHF6 expression by sponging miR-128-3p to protect intestinal mucosal in burned mice.
BMP1 is not required for lung fibrosis in mice.
Title: BMP1 is not required for lung fibrosis in mice.
Extracellular BMP1 is the major proteinase for COOH-terminal proteolysis of type I procollagen in lung fibroblasts.
Title: Extracellular BMP1 is the major proteinase for COOH-terminal proteolysis of type I procollagen in lung fibroblasts.
Proteolysis of the low density lipoprotein receptor by bone morphogenetic protein-1 regulates cellular cholesterol uptake.
Title: Proteolysis of the low density lipoprotein receptor by bone morphogenetic protein-1 regulates cellular cholesterol uptake.
Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
Title: Precise Spatiotemporal Control of Nodal Na(+) Channel Clustering by Bone Morphogenetic Protein-1/Tolloid-like Proteinases.
Study show that integrin alpha9beta1 antagonizes both alpha3beta1-dependent mTLD/BMP-1 expression and basement membrane (BM) assembly/maturation. These findings indicate a complex interplay between these two integrins whereby alpha3beta1 promotes, and coordinately, alpha9beta1 inhibits mTLD/BMP-1 production and laminin-gamma2 processing to effect timely BM assembly and maturation during wound healing.
Title: Opposing Roles of Epidermal Integrins α3β1 and α9β1 in Regulation of mTLD/BMP-1-Mediated Laminin-γ2 Processing during Wound Healing.
Biochemical studies identify a Bmp-mTORC1-Hif1a signaling cascade resulting in upregulation of Glut1 in chondrocytes that is essential for murine skeletal development.
Title: Glucose metabolism induced by Bmp signaling is essential for murine skeletal development.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sftpc (e-PCR), detects polymorphism
- UniSTS:516441

PMC164836P1 (e-PCR)
- UniSTS:271518

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables cytokine activity	IEA Inferred from Electronic Annotation more info
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	TAS Traceable Author Statement more info	PubMed
enables peptidase activity	ISO Inferred from Sequence Orthology more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in ossification	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of cartilage development	ISO Inferred from Sequence Orthology more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in vesicle	IEA Inferred from Electronic Annotation more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bone morphogenetic protein 1

Names: mammalian tolloid protein; procollagen C-proteinase

NP_001346950.1

EC 3.4.24.19

NP_001409046.1

EC 3.4.24.19

NP_033885.2

EC 3.4.24.19

XP_036014304.1

EC 3.4.24.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001360021.2 → NP_001346950.1 bone morphogenetic protein 1 isoform 1 precursor

Status: REVIEWED

Source sequence(s)

AC122268

Consensus CDS

CCDS36972.1

UniProtKB/Swiss-Prot

P98063, Q6NZM2

Conserved Domains (3) summary

cd04281
Location:126 → 325

ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...

pfam00431
Location:440 → 549

CUB; CUB domain

pfam14670
Location:712 → 747

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_001422117.1 → NP_001409046.1 bone morphogenetic protein 1 isoform 2

Status: REVIEWED

Source sequence(s)

AC122268
NM_009755.4 → NP_033885.2 bone morphogenetic protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_033885.2

Status: REVIEWED

Source sequence(s)

AC122268

Consensus CDS

CCDS36972.1

UniProtKB/Swiss-Prot

P98063, Q6NZM2

Related

ENSMUSP00000022693.8, ENSMUST00000022693.9

Conserved Domains (3) summary

cd04281
Location:126 → 325

ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...

pfam00431
Location:440 → 549

CUB; CUB domain

pfam14670
Location:712 → 747

FXa_inhibition; Coagulation Factor Xa inhibitory site

RNA

NR_033241.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC122268

Related

ENSMUST00000226906.2
NR_185486.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC122268
NR_185487.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC122268

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

70711998..70758280 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158411.1 → XP_036014304.1 bone morphogenetic protein 1 isoform X1

UniProtKB/TrEMBL

Q6P550

Conserved Domains (3) summary

pfam00431
Location:277 → 386

CUB; CUB domain

pfam14670
Location:397 → 429

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00064
Location:24 → 162

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...