1. Gene
  2. ECM1 - extracellular matrix protein 1 Gene

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.


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

ECM1 蛋白结构


ECM1: Extracellular matrix protein 1 (ECM1) (1 - 540)

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  • 500
  • 540 a.a.
蛋白主名 其他名称

extracellular matrix protein 1

secretory component p85


疾病名称 别名
Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis

Urbach-Wiethe Disease

Hyalinosis Cutis Et Mucosae

Lipid Proteinosis


Urbach Wiethe Disease


Lipoidosis Cutis Et Mucosae


Urbach-Wiethe Lipoid Proteinosis

Urbach-Wiethe Syndrome


Proteinosis Lipoid

Lichen Sclerosus Et Atrophicus

Lichen Sclerosus


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


Doyne Honeycomb Degeneration Of Retina


Malattia Leventinese



Dystrophy, Retinal, Doyne Honeycomb


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


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


Brugada Syndrome, Type 9

Skin Disease

Skin Diseases


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


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