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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]
BMP1 (Bone Morphogenetic Protein 1) is a Protein Coding gene. Diseases associated with BMP1 include Osteogenesis Imperfecta, Type Xiii and High Bone Mass Osteogenesis Imperfecta. Among its related pathways are Lipoprotein metabolism and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is TLL2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IEA | -- |
GO:0005125 | cytokine activity | IEA | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 19429706 |
GO:0008083 | growth factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0031982 | vesicle | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptotic Pathways in Synovial Fibroblasts |
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
|
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
|
2 | PEDF Induced Signaling |
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
|
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
|
3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
4 | TGF-Beta Pathway |
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
|
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.41
|
5 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | TAS,NAS | 7798260 |
GO:0001502 | cartilage condensation | TAS | 3201241 |
GO:0001503 | ossification | IEA | -- |
GO:0006508 | proteolysis | IEA,IDA | -- |
GO:0007165 | signal transduction | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
UK 383367 | BMP-1/PCP inhibitor,potent and selective | 348622-88-8 |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BMP1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BMP1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BMP1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BMP1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BMP1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bmp1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bmp1 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | BMP1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Bmp1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bmp1a 30 31 |
|
OneToMany | |
bmp1b 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | tld 31 |
|
ManyToMany | |
tok 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | nas-39 31 |
|
OneToMany | |
Y95B8A.1 32 |
|
|
|||
F09E8.6 32 |
|
|
|||
T04G9.2 32 |
|
|
|||
toh-2 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
674720 | Benign: not provided | 22,209,342(+) | C/T | INTRON_VARIANT | |
674968 | Benign: not provided | 22,195,610(+) | T/C | INTRON_VARIANT | |
675091 | Benign: not provided | 22,202,007(+) | A/G | INTRON_VARIANT | |
675112 | Benign: not provided | 22,192,267(+) | A/G | INTRON_VARIANT | |
675150 | Benign: not provided | 22,211,505(+) | C/T | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv12054n54 | CNV | loss | 21841781 |
esv2759604 | CNV | loss | 17122850 |
nsv465613 | CNV | loss | 19166990 |
nsv470204 | CNV | loss | 18288195 |
nsv470205 | CNV | loss | 18288195 |
nsv528590 | CNV | loss | 19592680 |
nsv610771 | CNV | loss | 21841781 |
nsv831263 | CNV | loss | 17160897 |
nsv831264 | CNV | gain+loss | 17160897 |
nsv831265 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
osteogenesis imperfecta, type xiii |
|
|
high bone mass osteogenesis imperfecta |
|
|
osteogenesis imperfecta, type iii |
|
|
trichorhinophalangeal syndrome, type ii |
|
|
surfactant metabolism dysfunction, pulmonary, 2 |
|
|