BMP1 - bone morphogenetic protein 1 Gene

Also Known as PCP; TLD; OI13; PCP2; PCOLC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 649

About BMP1

Cytogenetic location: 8p21.3 Genomic coordinates (GRCh38): 8:22,165,372-22,212,326 (from NCBI)

This gene has 18 transcripts (splice variants), 270 orthologues, 35 paralogues and is associated with 3 phenotypes. Broad expression in placenta (RPKM 24.6), endometrium (RPKM 12.4) and 22 other tissues.

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 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 Products (2)

mRNA	Protein	Name
NM_001199.4	NP_001190.1	bone morphogenetic protein 1 isoform 1 precursor
NM_006129.5	NP_006120.1	bone morphogenetic protein 1 isoform 3 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	19429706	GOA
enables peptidase activity	IDA IDA: Inferred from direct assay	12393877	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19429706	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within positive regulation of cartilage development	IDA IDA: Inferred from direct assay	3201241	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BMP1 Protein Structure

Astacin

CUB

FXa_inhibition

CUB

EGF_CA

CUB

0
200
400
600
800
986 a.a.

Protein Preferred Names	Protein Names
bone morphogenetic protein 1	mammalian tolloid protein

BMP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BMP1	P13497	COL5A1	Homo sapiens	P20908	Protease Assay	20979576
Intra	BMP1	P13497	BMP1	Homo sapiens	P13497	Solution Sedimentation	19429706
Intra	BMP1	P13497	CHRD	Homo sapiens	Q9H2X0	Protease Assay	20043912
Intra	BMP1	P13497	CHRD	Homo sapiens	Q9H2X0	Protease Assay	19429706
Intra	BMP1	P13497	P11226-PRO_0000017401	Homo sapiens	P11226-PRO_0000017401	SPR	29209066
Intra	BMP1	P13497	BMP1	Homo sapiens	P13497	TEM	19429706
Intra	BMP1	P13497	BMP1	Homo sapiens	P13497	Light Scattering	19429706
Intra	BMP1	P13497	MSTN	Homo sapiens	O14793	Enzymatic Study	25543063
Intra	BMP1	P13497	BMP1	Homo sapiens	P13497	GMS	19429706
Intra	BMP1	P13497	PCOLCE	Homo sapiens	Q15113	Protease Assay	20979576

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Osteogenesis Imperfecta, Type Xiii	Osteogenesis Imperfecta Type 13 OI13 Osteogenesis Imperfecta Type Xiii Oi, Type Xiii Osteogenesis Imperfecta 13 Oi Type Xiii Oi-Xiii
High Bone Mass Osteogenesis Imperfecta	High Bone Mass Oi
Osteogenesis Imperfecta, Type Iii	Osteogenesis Imperfecta Type Iii OI3 Oi, Type Iii Osteogenesis Imperfecta Type 3 Oi Type Iii Oi Type 3 Progressive Deforming Osteogenesis Imperfecta Severe Osteogenesis Imperfecta Osteogenesis Imperfecta, Progressively Deforming, With Normal Sclerae Progressively Deforming Osteogenesis Imperfecta With Normal Sclera Osteogenesis Imperfecta, Progressively Deforming With Normal Sclerae Progressively Deforming Oi Osteogenesis Imperfecta 3 Oi-Iii Progressively Deforming Osteogenesis Imperfecta With Normal Sclerae
Myositis Ossificans	Myisitis Ossificans Ossification - Muscle
Trichorhinophalangeal Syndrome, Type Ii	Langer-Giedion Syndrome Lgs Trichorhinophalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome Type 2 TRPS2 Monosomy 8q24.1 Chromosome 8q24.1 Deletion Syndrome Deletion 8q24.1 Giedion-Langer Syndrome Trichorhinophalangeal Dysplasia Type Ii Langer Giedion Syndrome Trps 2 Tricho-Rhino-Phalangeal Syndrome Type Ii Trichorhinophalangeal Syndrome With Exostosis Trps Ii Tricho-Rhino-Phalangeal Syndrome 2 8q24.1 Microdeletion Syndrome 8q24.1 Deletion Syndrome
Chiari Malformation
Hyperostosis Cranialis Interna	HCIN Hyperostosis Cranalis Interna
Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva Progressive Myositis Ossificans FOP Progressive Ossifying Myositis Myositis Ossificans Stone Man Syndrome Man Of Stone Myositis Ossificans Progressive Diffuse Progressive Ossifying Polymyositis Fibrodysplasia Ossificans Congenita Myositis Ossificans Progressiva, Site Unspecified Münchmeyer Disease Fop - [Fibrodysplasia Ossificans Progressiva] Progressive Myositis Ossificans Calcification
Dentinogenesis Imperfecta	Hereditary Opalescent Dentin Dentinogenesis Imperfecta Without Osteogenesis Imperfecta Dgi Capdepont Teeth Dgi Without Oi Di Non-Syndromic Dgi Non-Syndromic Dentinogenesis Imperfecta Opalescent Teeth Without Oi Opalescent Teeth Without Osteogenesis Imperfecta Opalescent Dentin
Gastroschisis	Laparoschisis Congenital Fissure Of The Abdominal Cavity Abdominal Wall Defect Abdominal Hernia Hernia, Abdominal Omphalocele Abnormality Of The Abdominal Wall Congenital Omphalocele Coeloschisis Coelioschisis Celoschisis Congenital Para-Umbilical Hernia
Cardiomyopathy, Familial Restrictive, 3	RCM3 Restrictive Cardiomyopathy 3 Familial Restrictive Cardiomyopathy 3 Cardiomyopathy, Familial Restrictive 3 Cardiomyopathy, Restrictive, Familial, Type 3
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Osteogenic Sarcoma	Osteosarcoma OSRC Osteosarcoma, Somatic Neoplasms, Bone Tissue Bone Tissue Neoplasm Osteoid Sarcoma Skeletal Sarcoma Osteosarcoma Of Bone Bone Sarcoma
Cole-Carpenter Syndrome	Cole Carpenter Syndrome Bone Fragility Craniosynostosis Proptosis Hydrocephalus Bone Fragility With Craniosynostosis, Ocular Proptosis, Hydrocephalus, And Distinctive Facial Features Bone Fragility-Craniosynostosis-Proptosis-Hydrocephalus Syndrome
Bruck Syndrome	Osteogenesis Imperfecta With Congenital Joint Contractures Osteogenesis Imperfecta-Congenital Joint Contractures Syndrome
Microphthalmia, Syndromic 13	X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome MCOPS13 Maine Microphthalmos Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation Syndromic Microphthalmia 13 X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome Microphthalmia, Syndromic, 13 Microphthalmia, Syndromic, Type 13
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Bone Development Disease
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-13102	UK-383367	Inhibitor	99.95%	Unkown
HY-RS01533	BMP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-201672	18:1 BMP (S,R) ammonium		/	Unkown
HY-N15998	18:1 BMP (R,R) ammonium		/	Unkown
HY-N16017	18:1 BDP (S,S) ammonium		/	Unkown
HY-RS18338	Bmp1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24817	Bmp1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	BMP1	VGNC	VGNC:60129
Mus musculus	BMP1	MGD	MGI:88176
Rattus norvegicus	BMP1	RGD	RGD:620739
Canis familiaris	BMP1	VGNC	VGNC:38475
Macaca mulatta	BMP1	VGNC	VGNC:70259
Bos taurus	BMP1	VGNC	VGNC:26514
Others	BMP1	NCBI