BMP1 bone morphogenetic protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BMP1provided by HGNC
Official Full Name: bone morphogenetic protein 1provided by HGNC
Primary source: HGNC:HGNC:1067
See related: Ensembl:ENSG00000168487 MIM:112264; AllianceGenome:HGNC:1067
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCP; TLD; OI13; PCP2; PCOLC
Summary: 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]
Expression: Broad expression in placenta (RPKM 24.6), endometrium (RPKM 12.4) and 22 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8p21.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22165372..22212326)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22439316..22486280)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22022885..22069839)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
Title: Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
Bone morphogenetic protein and cancer in spinal fusion: a propensity score-matched analysis.
Title: Bone morphogenetic protein and cancer in spinal fusion: a propensity score-matched analysis.
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.
KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-beta/BMP-SMAD4 pathway.
Title: KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-β/BMP-SMAD4 pathway.
The role of stromal BMP/CXCL12 signaling axis in serrated polyp development.
Title: The role of stromal BMP/CXCL12 signaling axis in serrated polyp development.
Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer.
Title: Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer.
An Analysis of BMP1 Associated with m6A Modification and Immune Infiltration in Pancancer.
Title: An Analysis of BMP1 Associated with m6A Modification and Immune Infiltration in Pancancer.
Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Title: Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
Bone morphogenetic protein 1.3 inhibition decreases scar formation and supports cardiomyocyte survival after myocardial infarction.
Title: Bone morphogenetic protein 1.3 inhibition decreases scar formation and supports cardiomyocyte survival after myocardial infarction.

Submit: New GeneRIF Correction See all GeneRIFs (70)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteogenesis imperfecta type 13 MedGen: C3553887 OMIM: 614856 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction	Pubs
Knockdown of bone morphogenetic protein 1 (BMP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	BMP-1 is upregulated in human epithelial cells by HIV-1 Tat treatment	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

WIAF-1622 (e-PCR)
- UniSTS:48914

SGC35299 (e-PCR)
- UniSTS:65042

GDB:215516 (e-PCR)
- UniSTS:156200

RH78298 (e-PCR)
- UniSTS:38713

RH78932 (e-PCR)
- UniSTS:9345

D1S3693 (e-PCR)
- UniSTS:474271

RH66510 (e-PCR)
- UniSTS:50346

NoName (e-PCR)
- UniSTS:484289

Cyba (e-PCR), detects polymorphism
- UniSTS:548034

G62003 (e-PCR)
- UniSTS:139224

A005O36 (e-PCR)
- UniSTS:74465

D14S1296 (e-PCR)
- UniSTS:80868

SHGC-156059 (e-PCR)
- UniSTS:184808

Gene Ontology Provided by GOA

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	IPI Inferred from Physical Interaction more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	TAS Traceable Author Statement more info
enables metallopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cartilage condensation	TAS Traceable Author Statement more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in collagen fibril organization	TAS Traceable Author Statement 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	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IDA Inferred from Direct Assay more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: bone morphogenetic protein 1

Names: mammalian tolloid protein; procollagen C-endopeptidase; procollagen C-proteinase 3; tolloid-like

NP_001190.1

EC 3.4.24.19

NP_006120.1

EC 3.4.24.19

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_029659.1 RefSeqGene

Range

5233..52187

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001199.4 → NP_001190.1 bone morphogenetic protein 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_001190.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as BMP1-1) represents the shortest transcript and encodes the shorter isoform (1).

Source sequence(s)

BC136679, BE619065, M22488

Consensus CDS

CCDS34856.1

UniProtKB/TrEMBL

Q59F71

Related

ENSP00000306121.8, ENST00000306349.13

Conserved Domains (4) summary

cd04281
Location:121 → 320

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:435 → 544

CUB; CUB domain

pfam01400
Location:128 → 321

Astacin; Astacin (Peptidase family M12A)

pfam14670
Location:555 → 587

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_006129.5 → NP_006120.1 bone morphogenetic protein 1 isoform 3 precursor

See identical proteins and their annotated locations for NP_006120.1

Status: REVIEWED

Description

Transcript Variant: This variant (3, also known as BMP1-3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

BC136679, BU627735

Consensus CDS

CCDS6026.1

UniProtKB/Swiss-Prot

A8K6F5, B2RN46, D3DSR0, P13497, Q13292, Q13872, Q14874, Q99421, Q99422, Q99423, Q9UL38

UniProtKB/TrEMBL

A5PLK9

Related

ENSP00000305714.5, ENST00000306385.10

Conserved Domains (4) summary

cd04281
Location:121 → 320

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:435 → 544

CUB; CUB domain

pfam01400
Location:128 → 321

Astacin; Astacin (Peptidase family M12A)

pfam14670
Location:707 → 742

FXa_inhibition; Coagulation Factor Xa inhibitory site

RNA

NR_033403.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC144366, BU627735

Related

ENST00000520982.5
NR_033404.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BC009305, BE619065, M22488

Related

ENST00000518913.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22165372..22212326

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

22439316..22486280

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_006128.2: Suppressed sequence

Description

NM_006128.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_006130.1: Suppressed sequence

Description

NM_006130.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
NM_006131.1: Suppressed sequence

Description

NM_006131.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
NM_006132.1: Suppressed sequence

Description

NM_006132.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.