• Gene id: 649

Gene Summary

• Gene Symbol: BMP1   Gene   UCSC   Ensembl
• Aliases: OI13, PCOLC, PCP, PCP2, TLD
• Gene name: bone morphogenetic protein 1
• Alternate names: bone morphogenetic protein 1, mammalian tolloid protein, procollagen C-endopeptidase, procollagen C-proteinase 3, tolloid-like,
• Gene location: 8p21.3 (22165371: 22212325)     Exons: 21     NC_000008.11
• Gene summary(Entrez): 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 facto
• OMIM: 112264

Protein Summary

• Protein general information: P13497  
  • Name: Bone morphogenetic protein 1 (BMP 1) (EC 3.4.24.19) (Mammalian tolloid protein) (mTld) (Procollagen C proteinase) (PCP)
  • Length: 986  
  • Mass: 111249
  • Tissue specificity: Ubiquitous.
• Sequence:

  MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDEEDLRAFQVQQAVDLR
  RHTARKSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAV
  FRQAMRHWEKHTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEH
  TRPDRDRHVSIVRENIQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIG
  QRTRLSKGDIAQARKLYKCPACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLC
  WYDYVEVRDGFWRKAPLRGRFCGSKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPN
  YPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRL
  WLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNG
  SITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVIT
  SQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVNTFGSYECQCRSGFVLHDNKHDCKEAGCDHK
  VTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFMEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSK
  KPEPVLATGSRMFLRFYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGY
  GVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHSDDTITKKGFHLRYTS
  TKFQDTLHSRK

• Structural information:
  • Protein Domains: (121..32-)
    (/note="Peptidase-M12A)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01211-)
    (322..43-)
    (/note="CUB-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00059-)
    (435..54-)
    (/note="CUB-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR029837  IPR015446  IPR000859  IPR001881  IPR013032   IPR000742  IPR000152  IPR018097  IPR009030  IPR024079  IPR001506  IPR006026  IPR035914  IPR034036  
  • Prosite: PS51864 PS00010 PS01180 PS01186 PS50026 PS01187 PS00142
  • CDD: cd00041 cd04281
  • PDB: 3EDG 3EDH 6BSL 6BSM 6BTN 6BTO 6BTP 6BTQ
  • PDBsum: 3EDG 3EDH 6BSL 6BSM 6BTN 6BTO 6BTP 6BTQ
  • DIP: 33403
  • STRING: ENSP00000305714
• Other Databases: GeneCards:  BMP1  Malacards:  BMP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005125	cytokine activity	IEA	molecular function
GO:0001503	ossification	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0051216	cartilage development	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008083	growth factor activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0008233	peptidase activity	TAS	molecular function
GO:0001502	cartilage condensation	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0061036	positive regulation of cartilage development	IDA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0034380	high-density lipoprotein particle assembly	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0022617	extracellular matrix disassembly	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0031982	vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0008233	peptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0001501	skeletal system development	NAS	biological process
GO:0008237	metallopeptidase activity	NAS	molecular function

Diseases

Associated diseases	References
Osteogenesis imperfecta	KEGG:H00506
Osteogenesis imperfecta	KEGG:H00506
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq