ECM1 - extracellular matrix protein 1 Gene

Homo sapiens

Also known as URBWD

Gene ID: 1893 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protease binding	IPI IPI: Inferred from physical interaction	16512877	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12604605	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of bone mineralization	IDA IDA: Inferred from direct assay	11165938	GOA
involved in negative regulation of peptidase activity	IDA IDA: Inferred from direct assay	16512877	GOA
involved in positive regulation of angiogenesis	IDA IDA: Inferred from direct assay	11292659	GOA
involved in positive regulation of endothelial cell proliferation	IDA IDA: Inferred from direct assay	11292659	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	20870722	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

ECM1 Protein Structure

ECM1

0
100
200
300
400
500
540 a.a.

Protein Preferred Names

Protein Names

extracellular matrix protein 1

secretory component p85

ECM1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ECM1	Q16610	LCE2A	Homo sapiens	Q5TA79	Validated Y2H	32296183
Intra	ECM1	Q16610	KRTAP9-3	Homo sapiens	Q9BYQ3	Validated Y2H	32296183
Intra	ECM1	Q16610	KRTAP5-3	Homo sapiens	Q6L8H2	Validated Y2H	32296183
Intra	ECM1	Q16610	GNE	Homo sapiens	Q9Y223-2	Validated Y2H	32296183
Intra	ECM1	Q16610	SAMD11	Homo sapiens	Q96NU1	Validated Y2H	32296183
Intra	ECM1	Q16610	A1CF	Homo sapiens	Q9NQ94	Validated Y2H	32296183
Intra	ECM1	Q16610	KLHL38	Homo sapiens	Q2WGJ6	Validated Y2H	32296183
Intra	ECM1	Q16610	DTX2	Homo sapiens	Q86UW9	Validated Y2H	32296183
Intra	ECM1	Q16610	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	ECM1	Q16610	SGTB	Homo sapiens	Q96EQ0	Validated Y2H	32296183
Intra	ECM1	Q16610	ENKD1	Homo sapiens	Q9H0I2	Validated Y2H	32296183
Intra	ECM1	Q16610	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183
Intra	ECM1	Q16610	UBQLN2	Homo sapiens	Q9UHD9	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04143	ECM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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