ECM1 - extracellular matrix protein 1 Gene

中文名称：细胞外基质蛋白 1

种属: Homo sapiens

同用名: URBWD

基因 ID: 1893 | 基因类型: protein coding

关于 ECM1

Cytogenetic location: 1q21.2 Genomic coordinates (GRCh38): 1:150,508,109-150,513,789 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and is associated with 4 phenotypes. Biased expression in esophagus (RPKM 332.0), gall bladder (RPKM 47.3) and 3 other tissues.

功能概要

该基因编码一种参与软骨内骨形成、血管生成和肿瘤生物学的可溶性蛋白质。它还与多种细胞外和结构蛋白相互作用，有助于维持皮肤完整性和体内平衡。该基因的突变与类脂蛋白沉积症 (也称为皮肤粘膜透明变性或 Urbach-Wiethe 病) 有关，其特征是皮肤、粘膜和某些内脏普遍增厚。已经为该基因描述了编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 2 月]

This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

ECM1 基因产物(3)

mRNA	Protein	Name
NM_001202858.2	NP_001189787.1	extracellular matrix protein 1 isoform 3 precursor
NM_004425.4	NP_004416.2	extracellular matrix protein 1 isoform 1 precursor
NM_022664.3	NP_073155.2	extracellular matrix protein 1 isoform 2 precursor

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 protease binding	IPI IPI: 通过物理相互作用推断	16512877	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12604605	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of bone mineralization	IDA IDA: 通过直接分析推断	11165938	GOA
involved in negative regulation of peptidase activity	IDA IDA: 通过直接分析推断	16512877	GOA
involved in positive regulation of angiogenesis	IDA IDA: 通过直接分析推断	11292659	GOA
involved in positive regulation of endothelial cell proliferation	IDA IDA: 通过直接分析推断	11292659	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in collagen-containing extracellular matrix	IDA IDA: 通过直接分析推断	20870722	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

ECM1 蛋白结构

ECM1

0
100
200
300
400
500
540 a.a.

蛋白主名

其他名称

extracellular matrix protein 1

secretory component p85

关联疾病

疾病名称

别名

Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis	Urbach-Wiethe Disease
Hyalinosis Cutis Et Mucosae	Lipid Proteinosis
Lipoproteinosis	Urbach Wiethe Disease
Lipoglycoproteinosis	Lipoidosis Cutis Et Mucosae
Lipoidproteinosis	Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome	LIP
Proteinosis Lipoid

Lichen Sclerosus Et Atrophicus

Lichen Sclerosus	LSA
Lichen Sclerosis	Lichen Sclerosis Et Atrophicus
Ls Et A - [Lichen Sclerosus Et Atrophicus]	Lichen Albus

Balanitis Xerotica Obliterans

Penile Lichen Sclerosus

Penile Leukoplakia

Urethral Syndrome

Urethral Disease	Urethral Diseases
Urethra Disease	Abnormality Of The Urethra
Urethral Disorders

Doyne Honeycomb Retinal Dystrophy

DHRD	Doyne Honeycomb Degeneration Of Retina
Dhd	Malattia Leventinese
Ml	Mlvt
Dystrophy, Retinal, Doyne Honeycomb

Phimosis

Tight Foreskin	Tight Frenulum
Congenital Phimosis

Vulvar Dystrophy

Dystrophy Of Vulva

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Retinal Drusen

Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9

Balanitis

Skin Disease

Skin Diseases	Genodermatosis
Abnormality Of The Skin	Skin Diseases, Genetic
Skin And Subcutaneous Tissue Disease	Dermatologic Disorders

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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-RS04143	ECM1 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	ECM1	VGNC	VGNC:61711
Rattus norvegicus	ECM1	RGD	RGD:620357
Bos taurus	ECM1	VGNC	VGNC:28311
Macaca mulatta	ECM1	VGNC	VGNC:72151
Mus musculus	ECM1	MGD	MGI:103060
Others	ECM1	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）

ECM1 - extracellular matrix protein 1 Gene

关于 ECM1

功能概要

ECM1 基因产物(3)

ECM1 蛋白结构

关联疾病

直系同源

热门区域

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ECM1 - extracellular matrix protein 1 Gene

关于 ECM1

功能概要

ECM1 基因产物(3)

ECM1 蛋白结构

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