BMP1 (bone morphogenetic protein 1)

2009-09-01  

Identity

HGNC
BMP1
LOCATION
8p21.3
LOCUSID
649
ALIAS
OI13,PCOLC,PCP,PCP2,TLD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 649
MIM: 112264
HGNC: 1067
Ensembl: ENSG00000168487

Variants:

dbSNP: 649
ClinVar: 649
TCGA: ENSG00000168487
COSMIC: BMP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168487ENST00000306349P13497
ENSG00000168487ENST00000306385P13497
ENSG00000168487ENST00000354870Q3MIM8
ENSG00000168487ENST00000397814B7ZKR5
ENSG00000168487ENST00000471755P13497
ENSG00000168487ENST00000483364Q3MIM8
ENSG00000168487ENST00000518656B7ZKR5
ENSG00000168487ENST00000518913B7ZKR5
ENSG00000168487ENST00000520626E5RH22
ENSG00000168487ENST00000520970P13497
ENSG00000168487ENST00000520982B7ZKR5
ENSG00000168487ENST00000521385P13497

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Anchoring fibril formationREACTOMER-HSA-2214320
Crosslinking of collagen fibrilsREACTOMER-HSA-2243919
Degradation of the extracellular matrixREACTOMER-HSA-1474228

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
155910582005BMP-1/Tolloid-like metalloproteases process endorepellin, the angiostatic C-terminal fragment of perlecan.63
224828052012Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.60
265924592016The Notch intracellular domain integrates signals from Wnt, Hedgehog, TGFβ/BMP and hypoxia pathways.56
220526682012Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.54
180560362007Vascular Bmp Msx2 Wnt signaling and oxidative stress in arterial calcification.52
228602172012DMH1, a highly selective small molecule BMP inhibitor promotes neurogenesis of hiPSCs: comparison of PAX6 and SOX1 expression during neural induction.39
235844842014miR-194 suppresses metastasis of non-small cell lung cancer through regulating expression of BMP1 and p27(kip1).39
196176272009Fibronectin binds and enhances the activity of bone morphogenetic protein 1.37
119863292002Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen.30
126375692003Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network.30

Citation

Dessen P

BMP1 (bone morphogenetic protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51108/bmp1-(bone-morphogenetic-protein-1)