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

Gene ID: 649, updated on 4-Jan-2025

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
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Genomic context

See BMP1 in Genome Data Viewer
Location:
8p21.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22165372..22212326)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22439316..22486280)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22022885..22069839)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18982 Neighboring gene surfactant protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22054519-22055286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22067676-22068367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22068368-22069058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22069059-22069750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22071895-22072757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22077527-22078227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22081363-22081865 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22089242-22089989 Neighboring gene Sharpr-MPRA regulatory region 11422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22102421-22103088 Neighboring gene microRNA 320a

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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

General gene information

Clone Names

  • FLJ44432

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding  
enables cytokine activity  
enables growth factor activity  
enables identical protein binding PubMed 
enables metalloendopeptidase activity  
enables metalloendopeptidase activity  
enables metallopeptidase activity PubMed 
enables peptidase activity PubMed 
enables protein binding PubMed 
enables serine-type endopeptidase activity  
enables zinc ion binding  
Process Evidence Code Pubs
involved_in cartilage condensation PubMed 
involved_in cell differentiation  
involved_in collagen fibril organization  
involved_in dorsal/ventral pattern formation  
involved_in ossification  
acts_upstream_of_or_within positive regulation of cartilage development PubMed 
involved_in protein processing  
involved_in proteolysis  
involved_in signal transduction  
involved_in skeletal system development PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus  
located_in extracellular region  
is_active_in extracellular space  
located_in vesicle  

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/TrEMBL
    Q59F71
    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
    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: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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22439316..22486280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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