Gene Gene information from NCBI Gene database.
Entrez ID 649
Gene name Bone morphogenetic protein 1
Gene symbol BMP1
Synonyms (NCBI Gene)
OI13PCOLCPCPPCP2TLD
Chromosome 8
Chromosome location 8p21.3
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 facto
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs116360985 C>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, intron variant, stop gained, coding sequence variant
rs318240762 G>C Pathogenic, not-provided Non coding transcript variant, missense variant, coding sequence variant
rs398122891 C>G Pathogenic Coding sequence variant, missense variant, non coding transcript variant
rs786205217 T>C Pathogenic Intron variant, non coding transcript variant, 3 prime UTR variant
rs786205218 G>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
136
miRTarBase ID miRNA Experiments Reference
MIRT006060 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006060 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006060 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006060 hsa-miR-29b-3p Luciferase reporter assayMicroarrayqRT-PCR 19956414
MIRT018244 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development NAS 7798260
GO:0001501 Process Skeletal system development TAS 3201241
GO:0001502 Process Cartilage condensation TAS 3201241
GO:0001503 Process Ossification IEA
GO:0004222 Function Metalloendopeptidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
112264 1067 ENSG00000168487
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13497
Protein name Bone morphogenetic protein 1 (BMP-1) (EC 3.4.24.19) (Mammalian tolloid protein) (mTld) (Procollagen C-proteinase) (PCP)
Protein function Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in seve
PDB 3EDG , 3EDH , 6BSL , 6BSM , 6BTN , 6BTO , 6BTP , 6BTQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01400 Astacin 128 321 Astacin (Peptidase family M12A) Domain
PF00431 CUB 322 431 CUB domain Domain
PF00431 CUB 435 544 CUB domain Domain
PF14670 FXa_inhibition 551 587 Domain
PF00431 CUB 591 700 CUB domain Domain
PF07645 EGF_CA 703 743 Calcium-binding EGF domain Domain
PF00431 CUB 747 856 CUB domain Domain
PF00431 CUB 860 973 CUB domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDE
EDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRR
AATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEKHTCVTFLERTDEDSYIVFTY
RPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVREN
IQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIG
QRTRLSKGDIAQARKLYKCPA
CGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKI
ILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSKLPEPIVSTDSRLWVEFRSSS
NWVGKGFFAVY
EAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSF
EIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGF
AVNF
FKEVDECSRPNRGGCEQRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNG
SITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSK
LHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHF
FSDKDECSKDNGGCQQDCVN
TFGSYECQCRSGFVLHDNKHDCK
EAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISST
PGHRVKLTFMEMDIESQPECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLR
FYSDNSVQRKGFQASH
ATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGY
GVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHS
DDTITKKGFHLRY
TSTKFQDTLHSRK
Sequence length 986
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of the extracellular matrix
Collagen biosynthesis and modifying enzymes
Anchoring fibril formation
Crosslinking of collagen fibrils
HDL assembly
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
211
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormality of the skeletal system Likely pathogenic; Pathogenic rs318240762 RCV001814013
Osteogenesis imperfecta Pathogenic; Likely pathogenic rs1828459412, rs759100606, rs318240762 RCV005057553
RCV003155840
RCV004690432
RCV004689429
Osteogenesis imperfecta type 13 Likely pathogenic; Pathogenic rs2131895772, rs2131855526, rs1828459412, rs786205217, rs786205218, rs786205219, rs786205220, rs759100606, rs770454056, rs398122891, rs318240762 RCV001619777
RCV002073405
RCV002073406
RCV000170453
RCV000170454
RCV000170455
RCV000170456
RCV005047680
RCV005040581
RCV000030846
RCV000030847
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs75173022, rs6984210, rs143265093, rs151163052 RCV005916514
RCV005915447
RCV005916948
RCV005913970
BMP1-related disorder Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity rs138999760, rs372422280, rs984549151, rs150161793, rs200936548, rs112461266, rs200238580, rs1476177459, rs766344543, rs201714147, rs1029274358, rs775928083, rs369901025, rs550032501, rs755452404
View all (13 more)
RCV003931206
RCV003910910
RCV003416546
RCV003976249
RCV004753412
RCV003968841
RCV003923478
RCV003895941
RCV003923592
RCV003898860
RCV003418563
RCV003900887
RCV003909963
RCV003405783
RCV003901231
RCV003966586
RCV003956497
RCV003956511
RCV003932501
RCV003929301
RCV003922627
RCV003922628
RCV003951692
RCV004753014
RCV003978086
RCV003936211
RCV003953543
RCV003898156
Cervical cancer Likely benign; Benign rs10095488, rs151163052 RCV005917729
RCV005913972
Familial cancer of breast Benign rs151163052 RCV005913969
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 34036102
Adenoma Inhibit 18008360
Adenoma Associate 26510091
Adenomatous Polyposis Coli Associate 36907526, 37889976
Adrenal Hyperplasia Congenital Associate 24380766
Anemia Sickle Cell Associate 24263212
Aortic Valve Calcification of Associate 21698246
Arnold Chiari Malformation Associate 28513615
Arteriovenous Malformations Associate 35393474, 36198763
Arthritis Associate 14558086, 30320351