BMP1 - bone morphogenetic protein 1 Gene

中文名称：骨形态发生蛋白 1

种属: Homo sapiens

同用名: PCP; TLD; OI13; PCP2; PCOLC

基因 ID: 649 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种能够在体内诱导软骨形成的蛋白质。虽然其他骨形态发生蛋白是 TGF-β 超家族的成员，但该基因编码的蛋白质与其他已知生长因子的关系并不密切。该基因被表达为可变剪接变体，它们共享一个 N 末端蛋白酶结构域，但在它们的 C 末端区域不同。[RefSeq 提供，2008 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	19429706	GOA
enables peptidase activity	IDA IDA: 通过直接分析推断	12393877	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	19429706	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within positive regulation of cartilage development	IDA IDA: 通过直接分析推断	3201241	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BMP1 蛋白结构

Astacin

CUB

FXa_inhibition

CUB

EGF_CA

CUB

0
200
400
600
800
986 a.a.

蛋白主名

其他名称

bone morphogenetic protein 1

mammalian tolloid protein

重组 BMP1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P72106	BMP-1 Protein, Human (His)	P13497 (A121-K986)	≥95%

关联疾病

疾病名称

别名

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]

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-13102	UK-383367	Inhibitor	99.92%	否
HY-RS01533	BMP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BMP1 - bone morphogenetic protein 1 Gene

关于 BMP1

功能概要

BMP1 基因产物(2)

BMP1 蛋白结构

重组 BMP1 蛋白

关联疾病

直系同源

热门区域

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BMP1 - bone morphogenetic protein 1 Gene

关于 BMP1

功能概要

BMP1 基因产物(2)

BMP1 蛋白结构

重组 BMP1 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z