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

Gene ID: 649, updated on 23-Nov-2021

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
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
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Genomic context

See BMP1 in Genome Data Viewer
Location:
8p21.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22165372..22212326)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22022885..22069839)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene surfactant protein C Neighboring gene Sharpr-MPRA regulatory region 2962 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein Neighboring gene microRNA 320a

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
GeneReviews: Not available
Osteogenesis imperfecta, type xiii
MedGen: C3553887 OMIM: 614856 GeneReviews: Not available
Compare labs

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44432

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 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 multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
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 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
 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bone morphogenetic protein 1
Names
mammalian tolloid protein
procollagen C-endopeptidase
procollagen C-proteinase 3
tolloid-like
NP_001190.1
NP_006120.1

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.

Genomic

  1. NG_029659.1 RefSeqGene

    Range
    5233..52187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001199.4NP_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/Swiss-Prot
    P13497
    Related
    ENSP00000306121.8, ENST00000306349.13
    Conserved Domains (4) summary
    cd04281
    Location:121320
    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:435544
    CUB; CUB domain
    pfam01400
    Location:128321
    Astacin; Astacin (Peptidase family M12A)
    pfam14670
    Location:555587
    FXa_inhibition; Coagulation Factor Xa inhibitory site
  2. NM_006129.5NP_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
    P13497
    Related
    ENSP00000305714.5, ENST00000306385.10
    Conserved Domains (4) summary
    cd04281
    Location:121320
    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:435544
    CUB; CUB domain
    pfam01400
    Location:128321
    Astacin; Astacin (Peptidase family M12A)
    pfam14670
    Location:707742
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RNA

  1. 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
  2. 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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    22165372..22212326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
  2. NM_006130.1: Suppressed sequence

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

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

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