Human Gene BMP1 (ENST00000306385.10_4) from GENCODE V47lift37
  Description: bone morphogenetic protein 1, transcript variant 4 (from RefSeq NR_033403.2)
Gencode Transcript: ENST00000306385.10_4
Gencode Gene: ENSG00000168487.20_11
Transcript (Including UTRs)
   Position: hg19 chr8:22,022,885-22,069,839 Size: 46,955 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr8:22,022,919-22,069,241 Size: 46,323 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:22,022,885-22,069,839)mRNA (may differ from genome)Protein (986 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BMP1_HUMAN
DESCRIPTION: RecName: Full=Bone morphogenetic protein 1; Short=BMP-1; EC=3.4.24.19; AltName: Full=Mammalian tolloid protein; Short=mTld; AltName: Full=Procollagen C-proteinase; Short=PCP; Flags: Precursor;
FUNCTION: Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD).
CATALYTIC ACTIVITY: Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.
COFACTOR: Binds 1 zinc ion per subunit.
ENZYME REGULATION: Activity is increased by the procollagen C- endopeptidase enhancer protein.
TISSUE SPECIFICITY: Ubiquitous.
DISEASE: Note=Defects in BMP1 are a cause of autosomal recessive osteogenesis imperfecta (AR-OI). A connective tissue disorder characterized by bone fragility, progressively deforming bones, bowing of limbs due to multiple fractures, very short stature, a triangular face, severe scoliosis, and grayish sclera. AR-OI due to BMP1 mutations belongs to the group of osteogenesis imperfecta type III in the Sillence classification.
SIMILARITY: Belongs to the peptidase M12A family.
SIMILARITY: Contains 5 CUB domains.
SIMILARITY: Contains 2 EGF-like domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BMP1
Diseases sorted by gene-association score: osteogenesis imperfecta, type xiii* (1200), bmp1-related osteogenesis imperfecta* (200), osteogenesis imperfecta, type iii* (111), osteogenesis imperfecta (16), trichorhinophalangeal syndrome, type ii (14), hyperostosis cranialis interna (13), myositis ossificans (13), gastroschisis (12), retinitis pigmentosa 43 (12), fibrodysplasia ossificans progressiva (9), omphalocele (6), spermatic cord torsion (6), craniometaphyseal dysplasia (6), breast cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.00 RPKM in Fallopian Tube
Total median expression: 560.12 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -6.1034-0.179 Picture PostScript Text
3' UTR -252.10598-0.422 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015446 - BMP_1/tolloid-like
IPR000859 - CUB
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR024079 - MetalloPept_cat_dom
IPR001506 - Peptidase_M12A
IPR006026 - Peptidase_Metallo

Pfam Domains:
PF00431 - CUB domain
PF01400 - Astacin (Peptidase family M12A)
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF
PF14670 - Coagulation Factor Xa inhibitory site

SCOP Domains:
49854 - Spermadhesin, CUB domain
55486 - Metalloproteases ("zincins"), catalytic domain
57196 - EGF/Laminin
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3EDG - X-ray MuPIT 3EDH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P13497
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005125 cytokine activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008083 growth factor activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0006508 proteolysis
GO:0007275 multicellular organism development
GO:0010469 regulation of receptor activity
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0034380 high-density lipoprotein particle assembly
GO:0051216 cartilage development
GO:0061036 positive regulation of cartilage development

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005794 Golgi apparatus
GO:0031982 vesicle


-  Descriptions from all associated GenBank mRNAs
  LF210146 - JP 2014500723-A/17649: Polycomb-Associated Non-Coding RNAs.
LF212583 - JP 2014500723-A/20086: Polycomb-Associated Non-Coding RNAs.
AB209590 - Homo sapiens mRNA for bone morphogenetic protein 1 isoform 1, precursor variant protein.
BC002593 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:3161360), partial cds.
BC009305 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:4128770), partial cds.
BC032105 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:3507785), partial cds.
BC044626 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:3163154), containing frame-shift errors.
BC142953 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone MGC:167007 IMAGE:8860340), complete cds.
AK291620 - Homo sapiens cDNA FLJ75408 complete cds, highly similar to Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant BMP1-5, mRNA.
BC136679 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone MGC:168292 IMAGE:9020669), complete cds.
BC144365 - Homo sapiens cDNA clone IMAGE:9052886.
BC144366 - Homo sapiens cDNA clone IMAGE:9052887.
BC101763 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:8069269), complete cds.
BC101765 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:8069271), complete cds.
BC143338 - Homo sapiens bone morphogenetic protein 1, mRNA (cDNA clone IMAGE:9051843), complete cds.
M22488 - Human bone morphogenetic protein 1 (BMP-1) mRNA.
Y08723 - H.sapiens mRNA for bone morphogenetic protein BMP1-4.
Y08724 - H.sapiens mRNA for bone morphogenetic protein BMP1-5.
Y08725 - H.sapiens mRNA for bone morphogenetic protein BMP1-6.
AB527418 - Synthetic construct DNA, clone: pF1KB4774, Homo sapiens BMP1 gene for bone morphogenetic protein 1, without stop codon, in Flexi system.
KJ896503 - Synthetic construct Homo sapiens clone ccsbBroadEn_05897 BMP1 gene, encodes complete protein.
U50330 - Human procollagen C-proteinase (pCP-2) mRNA, complete cds.
LF335112 - JP 2014500723-A/142615: Polycomb-Associated Non-Coding RNAs.
LF335111 - JP 2014500723-A/142614: Polycomb-Associated Non-Coding RNAs.
LF335110 - JP 2014500723-A/142613: Polycomb-Associated Non-Coding RNAs.
JD206069 - Sequence 187093 from Patent EP1572962.
JD519860 - Sequence 500884 from Patent EP1572962.
JD269107 - Sequence 250131 from Patent EP1572962.
JD345990 - Sequence 327014 from Patent EP1572962.
JD409076 - Sequence 390100 from Patent EP1572962.
JD219865 - Sequence 200889 from Patent EP1572962.
JD092679 - Sequence 73703 from Patent EP1572962.
JD362708 - Sequence 343732 from Patent EP1572962.
JD134545 - Sequence 115569 from Patent EP1572962.
LF335109 - JP 2014500723-A/142612: Polycomb-Associated Non-Coding RNAs.
JD123134 - Sequence 104158 from Patent EP1572962.
JD261188 - Sequence 242212 from Patent EP1572962.
LF335108 - JP 2014500723-A/142611: Polycomb-Associated Non-Coding RNAs.
JD203445 - Sequence 184469 from Patent EP1572962.
JD226814 - Sequence 207838 from Patent EP1572962.
LF335107 - JP 2014500723-A/142610: Polycomb-Associated Non-Coding RNAs.
JD454823 - Sequence 435847 from Patent EP1572962.
LF335106 - JP 2014500723-A/142609: Polycomb-Associated Non-Coding RNAs.
JD468073 - Sequence 449097 from Patent EP1572962.
LF335105 - JP 2014500723-A/142608: Polycomb-Associated Non-Coding RNAs.
JD039679 - Sequence 20703 from Patent EP1572962.
LF335104 - JP 2014500723-A/142607: Polycomb-Associated Non-Coding RNAs.
JD390143 - Sequence 371167 from Patent EP1572962.
JD409113 - Sequence 390137 from Patent EP1572962.
JD128478 - Sequence 109502 from Patent EP1572962.
JD141911 - Sequence 122935 from Patent EP1572962.
JD124320 - Sequence 105344 from Patent EP1572962.
LF335103 - JP 2014500723-A/142606: Polycomb-Associated Non-Coding RNAs.
JD175049 - Sequence 156073 from Patent EP1572962.
JD441102 - Sequence 422126 from Patent EP1572962.
JD232953 - Sequence 213977 from Patent EP1572962.
JD496744 - Sequence 477768 from Patent EP1572962.
JD361603 - Sequence 342627 from Patent EP1572962.
JD311244 - Sequence 292268 from Patent EP1572962.
JD101529 - Sequence 82553 from Patent EP1572962.
AK226123 - Homo sapiens mRNA for bone morphogenetic protein 1 isoform 3, precursor variant, clone: aj01160.
AF318323 - Homo sapiens pp11741 mRNA, complete cds.
AK126396 - Homo sapiens cDNA FLJ44432 fis, clone UTERU2019257, highly similar to BONE MORPHOGENETIC PROTEIN 1 PRECURSOR (EC 3.4.24.-).
L35279 - Homo sapiens (clone KT2) bone morphogenetic protein-1 (BMP-1) mRNA and alternatively spliced mammalian tolloid protein (mTld).
LF335098 - JP 2014500723-A/142601: Polycomb-Associated Non-Coding RNAs.
LF335097 - JP 2014500723-A/142600: Polycomb-Associated Non-Coding RNAs.
LF335095 - JP 2014500723-A/142598: Polycomb-Associated Non-Coding RNAs.
LF335094 - JP 2014500723-A/142597: Polycomb-Associated Non-Coding RNAs.
JD400159 - Sequence 381183 from Patent EP1572962.
JD403456 - Sequence 384480 from Patent EP1572962.
LF335093 - JP 2014500723-A/142596: Polycomb-Associated Non-Coding RNAs.
JD123235 - Sequence 104259 from Patent EP1572962.
JD067322 - Sequence 48346 from Patent EP1572962.
JD209537 - Sequence 190561 from Patent EP1572962.
JD250423 - Sequence 231447 from Patent EP1572962.
LF335092 - JP 2014500723-A/142595: Polycomb-Associated Non-Coding RNAs.
JD503891 - Sequence 484915 from Patent EP1572962.
JD250626 - Sequence 231650 from Patent EP1572962.
JD093846 - Sequence 74870 from Patent EP1572962.
JD093847 - Sequence 74871 from Patent EP1572962.
JD054917 - Sequence 35941 from Patent EP1572962.
JD359503 - Sequence 340527 from Patent EP1572962.
JD069211 - Sequence 50235 from Patent EP1572962.
LF335091 - JP 2014500723-A/142594: Polycomb-Associated Non-Coding RNAs.
MA445723 - JP 2018138019-A/17649: Polycomb-Associated Non-Coding RNAs.
MA448160 - JP 2018138019-A/20086: Polycomb-Associated Non-Coding RNAs.
MA570689 - JP 2018138019-A/142615: Polycomb-Associated Non-Coding RNAs.
MA570688 - JP 2018138019-A/142614: Polycomb-Associated Non-Coding RNAs.
MA570687 - JP 2018138019-A/142613: Polycomb-Associated Non-Coding RNAs.
MA570686 - JP 2018138019-A/142612: Polycomb-Associated Non-Coding RNAs.
MA570685 - JP 2018138019-A/142611: Polycomb-Associated Non-Coding RNAs.
MA570684 - JP 2018138019-A/142610: Polycomb-Associated Non-Coding RNAs.
MA570683 - JP 2018138019-A/142609: Polycomb-Associated Non-Coding RNAs.
MA570682 - JP 2018138019-A/142608: Polycomb-Associated Non-Coding RNAs.
MA570681 - JP 2018138019-A/142607: Polycomb-Associated Non-Coding RNAs.
MA570680 - JP 2018138019-A/142606: Polycomb-Associated Non-Coding RNAs.
MA570675 - JP 2018138019-A/142601: Polycomb-Associated Non-Coding RNAs.
MA570674 - JP 2018138019-A/142600: Polycomb-Associated Non-Coding RNAs.
MA570672 - JP 2018138019-A/142598: Polycomb-Associated Non-Coding RNAs.
MA570671 - JP 2018138019-A/142597: Polycomb-Associated Non-Coding RNAs.
MA570670 - JP 2018138019-A/142596: Polycomb-Associated Non-Coding RNAs.
MA570669 - JP 2018138019-A/142595: Polycomb-Associated Non-Coding RNAs.
MA570668 - JP 2018138019-A/142594: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P13497 (Reactome details) participates in the following event(s):

R-HSA-264758 BMP1-3:Zn2+ cleaves pro-APOA1 to APOA1
R-HSA-8963896 HDL assembly
R-HSA-8963898 Plasma lipoprotein assembly
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules
R-HSA-2002440 Removal of fibrillar collagen C-propeptides
R-HSA-2022141 Prolysyl oxidase activation
R-HSA-2002428 Removal of fibrillar collagen N-propeptides
R-HSA-2214330 Cleavage of collagen VII NC2 region by BMP1
R-HSA-3814820 HSPG2 (perlecan) is cleaved by BMP1, TLL1, TLL2, Cathepsin L1
R-HSA-1566979 Laminin-332 degradation by laminin-322 degrading extracellular proteinases
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-2214320 Anchoring fibril formation
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1474290 Collagen formation
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6F5, B2RN46, BMP1_HUMAN, D3DSR0, ENST00000306385.1, ENST00000306385.2, ENST00000306385.3, ENST00000306385.4, ENST00000306385.5, ENST00000306385.6, ENST00000306385.7, ENST00000306385.8, ENST00000306385.9, NR_033403, P13497, PCOLC, Q13292, Q13872, Q14874, Q99421, Q99422, Q99423, Q9UL38, uc317nvk.1, uc317nvk.2
UCSC ID: ENST00000306385.10_4
RefSeq Accession: NM_006129.5
Protein: P13497 (aka BMP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.