OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

中文名称：破骨细胞生成相关跨膜蛋白 1

种属: Homo sapiens

同用名: GL; GIPN; OPTB5; HSPC019

基因 ID: 28962 | 基因类型: protein coding

关于 OSTM1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:108,041,409-108,074,741 (from NCBI)

This gene has 22 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 17.8), adrenal (RPKM 13.8) and 24 other tissues.

功能概要

该基因编码的蛋白质可能通过泛素依赖性蛋白酶体途径参与 G 蛋白的降解。编码的蛋白质通过 N 末端富含亮氨酸的区域与 G 蛋白信号转导 (RGS) 家族调节因子 A 亚科的成员结合。该蛋白质还具有中央环指样结构域和 E3 泛素连接酶活性。这种蛋白质从苍蝇到人类高度保守。该基因的缺陷可能导致常染色体隐性遗传、婴儿恶性骨硬化症。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent Proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin Ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]

OSTM1 基因产物(1)

mRNA	Protein	Name
NM_014028.4	NP_054747.2	osteopetrosis-associated transmembrane protein 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32851177	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in transepithelial chloride transport	IDA IDA: 通过直接分析推断	32851177	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of chloride channel complex	IPI IPI: 通过物理相互作用推断	32851177	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	21527911	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

OSTM1 蛋白结构

OSTMP1

0
100
200
300
334 a.a.

蛋白主名

其他名称

osteopetrosis-associated transmembrane protein 1

CLCN7 accessory beta subunit

OSTM1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	32851177
种属内	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	3D-EM	32851177
种属内	OSTM1	Q86WC4	CLCN7	Homo sapiens	P51798	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 OSTM1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76531	OSTM1 Protein, Human (HEK293, His)	Q86WC4 (A32-P284)	≥95%

关联疾病

疾病名称

别名

Osteopetrosis, Autosomal Recessive 5

OPTB5	Autosomal Recessive Osteopetrosis 5
Infantile Malignant Osteopetrosis 3	Osteopetrosis, Infantile Malignant 3
Osteopetrosis Autosomal Recessive 5	Osteopetrosis And Infantile Neuroaxonal Dystrophy
Autosomal Recessive Osteopetrosis Type 5	Osteopetrosis Infantile Malignant 3
Osteopetrosis, Autosomal Recessive, Type 5

Infantile Osteopetrosis With Neuroaxonal Dysplasia

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Axial Osteomalacia

Atypical Osteomalacia Involving The Axial Skeleton

Endosteal Hyperostosis, Autosomal Dominant

Osteosclerosis	Worth Syndrome
Osteosclerosis, Autosomal Dominant	Hyperostosis, Endosteal
Endosteal Hyperostosis, Worth Type	Worth Disease
Autosomal Dominant Endosteal Hyperostosis	Autosomal Dominant Osteosclerosis, Worth Type
Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus	Autosomal Dominant Osteosclerosis
Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus	Worth'S Syndrome
Worth Type Autosomal Dominant Osteosclerosis	Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus
Osteosclerosis, Autosomal Dominant, Worth Type	WENHY
Endosteal Hyperostosis Autosomal Dominant	Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus
Osteosclerosis Autosomal Dominant	Acquired Osteosclerosis

Osteopetrosis, Autosomal Recessive 4

Autosomal Recessive Osteopetrosis 4	OPTB4
Infantile Malignant Osteopetrosis 2	Osteopetrosis, Infantile Malignant 2
Osteopetrosis, Autosomal Recessive, Type 4

Fibrogenesis Imperfecta Ossium

Baker'S Disease

Osteopetrosis, Autosomal Dominant 2

OPTA2	Autosomal Dominant Osteopetrosis 2
Osteopetrosis Autosomal Dominant Type 2	Osteopetrosis, Autosomal Dominant, Type Ii
Albers-Schonberg Osteopetrosis	Autosomal Dominant Albers-Schonberg Disease
Osteopetrosis	Marble Bones, Autosomal Dominant
Osteosclerosis Fragilis Generalisata	Albers-Schonberg Disease, Autosomal Dominant
Autosomal Dominant Osteopetrosis Type Ii	Albers-Schönberg Osteopetrosis
Autosomal Dominant Osteopetrosis Type 2	Marble Disease Autosomal Dominant
Osteopetrosis, Autosomal Dominant, Type 2

Osteopetrosis, Autosomal Recessive 2

OPTB2	Autosomal Recessive Osteopetrosis 2
Osteopetrosis, Mild Autosomal Recessive Form	Osteoclast-Poor Osteopetrosis
Osteopetrosis, Osteoclast-Poor	Mild Autosomal Recessive Form Osteopetrosis
Osteopetrosis Autosomal Recessive 2	Autosomal Recessive Osteopetrosis Type 2
Osteopetrosis Osteoclast-Poor	Osteopetrosis, Autosomal Recessive, Type 2

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Pycnodysostosis

Pyknodysostosis	PKND
Pycd	Toulouse-Lautrec Syndrome

Craniometaphyseal Dysplasia, Autosomal Dominant

Craniometaphyseal Dysplasia	CMDD
Cmdj	Cmd
Autosomal Dominant Craniometaphyseal Dysplasia	Craniometaphyseal Dysplasia, Jackson Type
Craniometaphyseal Dysplasia Jackson Type	Autosomal Recessive Craniometaphyseal Dysplasia
Cmdr	Dysplasia, Craniometaphyseal, Autosomal Dominant
Craniometaphyseal Dysplasia, Autosomal Recessive Type

Osteopoikilosis

Osteopathia Condensans Disseminata	Spotted Bones
Dermatofibrosis Lenticularis Disseminata

Osteopetrosis, Autosomal Recessive 3

Osteopetrosis With Renal Tubular Acidosis	Marble Brain Disease
OPTB3	Guibaud-Vainsel Syndrome
Carbonic Anhydrase Ii Deficiency	Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
Autosomal Recessive Osteopetrosis 3	Carbonic Anhydrase 2 Deficiency
Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis	Osteopetrosis Autosomal Recessive 3
Autosomal Recessive Osteopetrosis Type 3	Guibaud Vainsel Syndrome
Mixed Rta	Mixed Renal Tubular Acidosis
Renal Tubular Acidosis Type 3	Carbonic Anhydrase Ii Deficiency Syndrome
Carbonic Anhydrase Ii Variant	Osteopetrosis, Autosomal Recessive, Type 3
Carbonic Anhydrase 2

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-RS09857	OSTM1 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	OSTM1	VGNC	VGNC:63991
Mus musculus	OSTM1	MGD	MGI:2655574
Rattus norvegicus	OSTM1	RGD	RGD:1564976
Canis familiaris	OSTM1	VGNC	VGNC:44172
Bos taurus	OSTM1	VGNC	VGNC:32480
Macaca mulatta	OSTM1	VGNC	VGNC:75664
Others	OSTM1	NCBI

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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）

OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

关于 OSTM1

功能概要

OSTM1 基因产物(1)

OSTM1 蛋白结构

OSTM1 蛋白互作信息

重组 OSTM1 蛋白

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

OSTM1 - osteoclastogenesis associated transmembrane protein 1 Gene

关于 OSTM1

功能概要

OSTM1 基因产物(1)

OSTM1 蛋白结构

OSTM1 蛋白互作信息

重组 OSTM1 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