Aliases for BMP1 Gene
Aliases for BMP1 Gene
External Ids for BMP1 Gene
- HGNC: 1067
- Entrez Gene: 649
- Ensembl: ENSG00000168487
- OMIM: 112264
- UniProtKB: P13497
Previous HGNC Symbols for BMP1 Gene
- PCOLC
Previous GeneCards Identifiers for BMP1 Gene
- GC08P021781
- GC08P022375
- GC08P021843
- GC08P022044
- GC08P022078
- GC08P022022
- GC08P020564
Summaries for BMP1 Gene
-
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]
GeneCards Summary for BMP1 Gene
BMP1 (Bone Morphogenetic Protein 1) is a Protein Coding gene. Diseases associated with BMP1 include Osteogenesis Imperfecta, Type Xiii and Osteogenesis Imperfecta, Type Iii. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is TLL2.
UniProtKB/Swiss-Prot for BMP1 Gene
-
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). Responsible for the proteolytic activation of lysyl oxidase LOX.
Additional gene information for BMP1 Gene
- Monarch Initiative
- Search for BMP1 at DataMed
- Search for BMP1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP1 Gene
Genomics for BMP1 Gene
GeneHancer (GH) Regulatory Elements for BMP1 Gene
Promoters and enhancers for BMP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BMP1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the BMP1 gene promoter:
Regulatory Element Products
Genomic Locations for BMP1 Gene
Genomic Locations for BMP1 Gene
- chr8:22,164,736-22,212,326
- (GRCh38/hg38)
- Size:
- 47,591 bases
- Orientation:
- Plus strand
- chr8:22,022,249-22,069,839
- (GRCh37/hg19)
Genomic View for BMP1 Gene
Genes around BMP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p21.3 by Ensembl
- 8p21.3 by Entrez Gene
- 8p21.3 by HGNC
BMP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BMP1 Gene
Proteins for BMP1 Gene
-
Protein details for BMP1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P13497-BMP1_HUMAN
- Recommended name:
- Bone morphogenetic protein 1
- Protein Accession:
- P13497
- A8K6F5
- B2RN46
- D3DSR0
- Q13292
- Q13872
- Q14874
- Q99421
- Q99422
- Q99423
- Q9UL38
Protein attributes for BMP1 Gene
- Size:
- 986 amino acids
- Molecular mass:
- 111249 Da
- Cofactor:
- Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
- Quaternary structure:
-
- Interacts with POSTN, the interaction promotes deposition on the extracellular matrix.
Protein Expression for BMP1 Gene
Selected DME Specific Peptides for BMP1 Gene
- P13497:
-
- IGQRTRLS
- CGCCSYVGRRG
- QYRISLQF
- WEKHTCV
- YLEVRDG
- KDNGGCQ
- DSRLWVEFRSSS
- YEAICGG
- CGSGPPEE
- FEIERHD
- IVFTYRPCGCCSYVGRRG
- SDGSINKAGF
- KLHGKFCG
- VSEGFHVG
- EFRSSSN
- GFWHEHTRPDR
- CAYDYLE
- SPNWPDKYPS
- GKNCDKFG
- SHAQFGDNNYP
- PGWPKEYP
- SIMHYARNTFSRG
- SVTPGEKI
- FQSFEIERH
- GGCEQRC
- CVNTFGSY
- IQSPNYPDDYRP
- RENIQPGQEYNFLKME
- EFKSDNTVSK
- SLGETYDF
- SVQRKGFQA
- CPACGETLQ
- ECAYDHLEVFDG
- CEAACGG
Post-translational modifications for BMP1 Gene
- Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.
- Glycosylation at Asn91, posLast=142142, posLast=332332, Asn363, and posLast=599599
Other Protein References for BMP1 Gene
Antibody Products
- R&D Systems Antibodies for BMP1 (BMP-1/PCP)
-
Custom Antibody ServicesOriGene Antibodies for BMP1
- Novus Biologicals Antibodies for BMP1
-
Abcam antibodies for BMP1
-
Cloud-Clone Corp. Antibodies for BMP1
- Invitrogen Antibodies for BMP1
- GeneTex BMP1 antibody for BMP1
Protein Products
- R&D Systems Proteins and Enzymes for BMP1 (BMP-1/PCP)
-
OriGene Purified Proteins for BMP1
- Search Origene for MassSpec and Protein Over-expression Lysates for BMP1
- Origene Custom Protein Services for BMP1
-
Cloud-Clone Corp. Proteins for BMP1
- Search GeneTex for Proteins for BMP1
-
Abcam proteins for BMP1
Assay Products
-
Cloud-Clone Corp. Assay Kits for BMP1
Domains & Families for BMP1 Gene
Gene Families for BMP1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted secreted proteins
Protein Domains for BMP1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for BMP1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P13497- Family:
-
- Belongs to the peptidase M12A family.
Function for BMP1 Gene
Molecular function for BMP1 Gene
- GENATLAS Biochemistry:
- bone morphogenetic protein 1,astacin family of metalloproteinases,expressed in bone tissues,acting as a procollagen C-proteinase that process the fibrillar collagen types I-III and prolysyl-oxidase;also encoding an alternatively spliced transcript for a protein with a domain identical to Drosophila dorsal-ventral pattern gene tolloid (TLD),activating TGFB-like molecules,and five other tissue specific,alternatively spliced isoforms
- UniProtKB/Swiss-Prot CatalyticActivity:
- Cleavage of the C-terminal propeptide at Ala- -Asp in type I and II procollagens and at Arg- -Asp in type III.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Activity is increased by the procollagen C-endopeptidase enhancer protein.
- UniProtKB/Swiss-Prot 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). Responsible for the proteolytic activation of lysyl oxidase LOX.
Enzyme Numbers (IUBMB) for BMP1 Gene
Phenotypes From GWAS Catalog for BMP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004222 | metalloendopeptidase activity | IEA,TAS | -- |
| GO:0004252 | serine-type endopeptidase activity | TAS | -- |
| GO:0005125 | cytokine activity | IEA | -- |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 19429706 |
Phenotypes for BMP1 Gene
- MGI mutant phenotypes for BMP1:
-
inferred from 2 alleles
- homeostasis/metabolism phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- embryo phenotype
- hematopoietic system phenotype
- skeleton phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for BMP1:
Animal Models for BMP1 Gene
- MGI Knock Outs for BMP1:
-
- Bmp1 tm1Blh
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for BMP1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for BMP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for BMP1 gene
- Search ViGene Biosciences for BMP1
CRISPR Products
-
OriGene CRISPR knockouts for BMP1
- genomics-online: gRNA clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- Applied Biological Materials CRISPR for BMP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMP1
- GenScript: Design CRISPR guide RNA sequences for BMP1
miRNA for BMP1 Gene
- miRTarBase miRNAs that target BMP1
miRNA Products
- Search ViGene Biosciences for BMP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BMP1
- Browse OriGene Inhibitory RNA Products For BMP1
- genomics-online: shRNA clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
-
ViGene Biosciences ready-to-package AAV shRNAs for BMP1 gene
Clone Products
-
OriGene ORF clones in human for BMP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for BMP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- orf clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pLenti-C-Myc-DDK
- pLenti-C-mGFP
- pLenti-U6-sgRNA-PGK-Neo
- pPB-His-MBP
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- Applied Biological Materials Clones for BMP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for BMP1
-
ViGene Biosciences adenoviral particle packaged cDNA for BMP1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for BMP1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for BMP1 gene
No data available for Transcription Factor Targets and HOMER Transcription for BMP1 Gene
Localization for BMP1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BMP1 Gene
- Golgi apparatus, trans-Golgi network. Secreted, extracellular space, extracellular matrix. Note=Co-localizes with POSTN in the Golgi. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| golgi apparatus | 3 |
| plasma membrane | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0031982 | vesicle | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP1 Gene
Pathways & Interactions for BMP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Apoptotic Pathways in Synovial Fibroblasts |
.74
.66
|
.65
.61
.60
.57
|
| 2 | PEDF Induced Signaling |
.61
|
.47
|
| 3 | GPCR Pathway |
.73
.62
|
.55
|
| 4 | TGF-Beta Pathway |
.60
.57
|
.51
.40
|
| 5 | ERK Signaling |
.61
.58
|
.49
|
Pathways by source for BMP1 Gene
3 BioSystems pathways for BMP1 Gene
Interacting Proteins for BMP1 Gene
Selected Interacting proteins:
ENSP00000305714
P13497-BMP1_HUMAN
for BMP1 Gene via
STRING
IID
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | NAS | 7798260 |
| GO:0001502 | cartilage condensation | TAS | 3201241 |
| GO:0001503 | ossification | IEA | -- |
| GO:0006508 | proteolysis | IDA,IEA | 16824737 |
| GO:0007275 | multicellular organism development | TAS | 7798260 |
No data available for SIGNOR curated interactions for BMP1 Gene
Drugs & Compounds for BMP1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
(1) ApexBio Compounds for BMP1 Gene
| Compound | Action | Cas Number |
|---|---|---|
| UK 383367 | BMP-1/PCP inhibitor,potent and selective | 348622-88-8 |
Transcripts for BMP1 Gene
mRNA/cDNA for BMP1 Gene
- (9) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (259) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BMP1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BMP1
- genomics-online: gRNA clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- Applied Biological Materials CRISPR for BMP1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMP1
- GenScript: Design CRISPR guide RNA sequences for BMP1
miRNA Products
- Search ViGene Biosciences for BMP1
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for BMP1
- Browse OriGene Inhibitory RNA Products For BMP1
- genomics-online: shRNA clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
-
ViGene Biosciences ready-to-package AAV shRNAs for BMP1 gene
Clone Products
-
OriGene ORF clones in human for BMP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for BMP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMP1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- orf clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pLenti-C-Myc-DDK
- pLenti-C-mGFP
- pLenti-U6-sgRNA-PGK-Neo
- pPB-His-MBP
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- Applied Biological Materials Clones for BMP1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||
| SP3: | - | - | - | ||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||
| SP5: | - | ||||||||||||||||||
| SP6: | |||||||||||||||||||
| SP7: | |||||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | |||||||||||||||||||
| SP12: |
Expression for BMP1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Amniocyte (42.4), Serum (10.1), and Plasma (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BMP1 Gene
NURSA nuclear receptor signaling pathways regulating expression of BMP1 Gene:
BMP1SOURCE GeneReport for Unigene cluster for BMP1 Gene:
Hs.1274mRNA Expression by UniProt/SwissProt for BMP1 Gene:
P13497-BMP1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for BMP1 Gene
- Nervous system(4.6)
- Skin(4.4)
- Muscle(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- skull
- tongue
- tooth
- vocal cord
Thorax:
- chest wall
- clavicle
- heart
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- intestine
- kidney
- liver
- stomach
Pelvis:
- pelvis
- ureter
- uterus
- vagina
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for BMP1
- genomics-online: primer clones - Search results for 91 available BMP1 gene related products
- Overview of 91 available BMP1 gene related products
-
Recommended
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
- pRFP-C-RS
- pPB-N-His
- pPB-His-GST
- pPB-C-His
- pLenti-U6-sgRNA-SFFV-Cas9-2A-Puro
- pPB-His-MBP
- pLenti-U6-sgRNA-PGK-Neo
- pLenti-C-mGFP
- pLenti-C-Myc-DDK
- pCMV6-XL4
- pCMV6-Entry
- pCMV6-XL6
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for BMP1 Gene
Orthologs for BMP1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BMP1 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | BMP1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BMP1 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | BMP1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BMP1 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Bmp1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Bmp1 33 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | BMP1 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Bmp1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | bmp1a 33 34 |
|
||
| bmp1b 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | tld 34 |
|
ManyToMany | |
| tok 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | nas-39 34 |
|
OneToMany | |
| Y95B8A.1 35 |
|
|
|||
| F09E8.6 35 |
|
|
|||
| T04G9.2 35 |
|
|
|||
| toh-2 35 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for BMP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for BMP1 Gene
(7) SIMAP similar genes for BMP1 Gene using alignment to 5 proteins:
Variants for BMP1 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111596355 | benign, Osteogenesis Imperfecta, Recessive, Idiopathic fibrosing alveolitis, chronic form, Pulmonary Surfactant Metabolism Dysfunction, Dominant | 22,165,236(+) | A/G | 5_prime_UTR_variant, non_coding_transcript_variant | |
| rs1124 | benign, not specified, Idiopathic fibrosing alveolitis, chronic form, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Osteogenesis Imperfecta, Recessive | 22,164,004(+) | G/A | upstream_transcript_variant | |
| rs1126931 | likely-benign, benign, Osteogenesis Imperfecta, Recessive, Pulmonary Surfactant Metabolism Dysfunction, Dominant, Idiopathic fibrosing alveolitis, chronic form | 22,164,420(+) | C/T | upstream_transcript_variant | |
| rs1139547 | benign, Osteogenesis Imperfecta, Recessive, Idiopathic fibrosing alveolitis, chronic form, Pulmonary Surfactant Metabolism Dysfunction, Dominant | 22,164,421(+) | G/A/T | upstream_transcript_variant | |
| rs117522390 | uncertain-significance, Osteogenesis Imperfecta, Recessive | 22,212,180(+) | A/C | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv831265 | CNV | loss | 17160897 |
| nsv831264 | CNV | gain+loss | 17160897 |
| nsv831263 | CNV | loss | 17160897 |
| nsv610771 | CNV | loss | 21841781 |
| nsv528590 | CNV | loss | 19592680 |
| nsv470205 | CNV | loss | 18288195 |
| nsv470204 | CNV | loss | 18288195 |
| nsv465613 | CNV | loss | 19166990 |
| esv2759604 | CNV | loss | 17122850 |
| dgv12054n54 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
1.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.31;
70.54% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for BMP1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP1 Gene
Disorders for BMP1 Gene
(15) MalaCards diseases for BMP1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteogenesis imperfecta, type xiii |
|
|
| osteogenesis imperfecta, type iii |
|
|
| trichorhinophalangeal syndrome, type ii |
|
|
| hyperostosis cranialis interna |
|
|
| chiari malformation type i |
|
|
Search BMP1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BMP1_HUMAN- Osteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269 PubMed:22052668, ECO:0000269 PubMed:22482805, ECO:0000269 PubMed:25402547}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for BMP1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for BMP1 Gene
Publications for BMP1 Gene
- Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PMID: 18824173) Mac Sweeney A … Gerhartz B (Journal of molecular biology 2008) 3 4 22 58
- Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network. (PMID: 12637569) Leighton M … Kadler KE (The Journal of biological chemistry 2003) 3 4 22 58
- Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity. (PMID: 11283002) Garrigue-Antar L … Kadler KE (The Journal of biological chemistry 2001) 3 4 22 58
- The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. (PMID: 8643539) Li SW … Prockop DJ (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22 58
- Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. (PMID: 7798260) Takahara K … Greenspan DS (The Journal of biological chemistry 1994) 3 4 22 58
Products for BMP1 Gene
- R&D Systems Antibodies for BMP1 (BMP-1/PCP)
- R&D Systems Proteins and Enzymes for BMP1 (BMP-1/PCP)
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for BMP1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for BMP1
- Search Origene for MassSpec and Protein Over-expression Lysates for BMP1
- Origene Custom Protein Services for BMP1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BMP1
- Browse OriGene Inhibitory RNA Products For BMP1
- OriGene qPCR primer pairs for BMP1
- OriGene CRISPR knockouts for BMP1
- OriGene ORF clones in human for BMP1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For BMP1
- GenScript: Next-day shipping of latest version cDNA ORF clones for BMP1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for BMP1
- GenScript Custom Assay Services for BMP1
- GenScript Custom overexpressing Cell Line Services for BMP1
- GenScript: Design CRISPR guide RNA sequences for BMP1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for BMP1
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for BMP1
- Novus Biologicals lysates and proteins for BMP1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for BMP1
- Abcam proteins for BMP1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cloud-Clone Corp. Antibodies for BMP1
- Cloud-Clone Corp. Proteins for BMP1
- Cloud-Clone Corp. Assay Kits for BMP1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for BMP1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- ApexBio compounds for BMP1
- Cyagen custom Knockout/knockin (KOKI) mouse models for BMP1
- VectorBuilder custom plasmid, inducible vectors for BMP1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMP1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: