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ECM1 - extracellular matrix protein 1 Gene

Also Known as URBWD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1893

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

ECM1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83042	Extracellular Matrix Protein 1 Antibody (YA2787)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Rat
HY-P83042A	Extracellular Matrix Protein 1 Antibody (YA2787)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Rat

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04143	ECM1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17452	Ecm1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23908	Ecm1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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