Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1893
Gene name	Extracellular matrix protein 1
Gene symbol	ECM1
Synonyms (NCBI Gene)	URBWD
Chromosome	1
Chromosome location	1q21.2
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 homeosta

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909114	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs121909115	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909116	T>A	Pathogenic	Missense variant, coding sequence variant
rs746217361	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, intron variant
rs778473713	A>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs869025563	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs869025564	->C	Pathogenic	Coding sequence variant, frameshift variant
rs869025565	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs869025566	T>G	Pathogenic	Missense variant, coding sequence variant
rs869025567	GC>TT	Pathogenic	Coding sequence variant, stop gained
rs1560265435	G>A	Pathogenic	Stop gained, coding sequence variant
rs1560267428	G>T	Pathogenic	Splice acceptor variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT734173	hsa-miR-193a-5p	Immunohistochemistry (IHC)Luciferase reporter assayqRT-PCRWestern blotting	32489562

Show/Hide all (3)

Transcription factor	Regulation	Reference
TFAP2A	Activation	17187826
TFAP2C	Activation	17187826
TFAP2C	Unknown	24023917

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001503	Process	Ossification	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	11292659
GO:0001960	Process	Negative regulation of cytokine-mediated signaling pathway	IEA
GO:0002020	Function	Protease binding	IPI	16512877
GO:0002063	Process	Chondrocyte development	IEA
GO:0002828	Process	Regulation of type 2 immune response	IEA
GO:0003416	Process	Endochondral bone growth	IEA
GO:0005134	Function	Interleukin-2 receptor binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509
GO:0005515	Function	Protein binding	IPI	12604605, 19275936, 20870722, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0010466	Process	Negative regulation of peptidase activity	IDA	16512877
GO:0030500	Process	Regulation of bone mineralization	IBA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0030500	Process	Regulation of bone mineralization	IEA
GO:0030502	Process	Negative regulation of bone mineralization	IDA	11165938
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	NAS	9367673
GO:0031012	Component	Extracellular matrix	TAS	9367673
GO:0031089	Component	Platelet dense granule lumen	TAS
GO:0031214	Process	Biomineral tissue development	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	HMP	12761501
GO:0045766	Process	Positive regulation of angiogenesis	IDA	11292659
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:2000404	Process	Regulation of T cell migration	IEA

MIM	HGNC	e!Ensembl
602201	3153	ENSG00000143369

Q16610

Protein name

Extracellular matrix protein 1 (Secretory component p85)

Protein function

Involved in endochondral bone formation as negative regulator of bone mineralization. Stimulates the proliferation of endothelial cells and promotes angiogenesis. Inhibits MMP9 proteolytic activity. {ECO:0000269|PubMed:11165938, ECO:0000269|PubM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05782	ECM1	1 → 540	Extracellular matrix protein 1 (ECM1)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in breast cancer tissues. Little or no expression observed in normal breast tissues. Expressed in skin; wide expression is observed throughout the dermis with minimal expression in the epidermis. {ECO:0000269|PubMed:11292659,

Sequence

MGTTARAALVLTYLAVASAASEGGFTATGQRQLRPEHFQEVGYAAPPSPPLSRSLPMDHP
DSSQHGPPFEGQSQVQPPPSQEATPLQQEKLLPAQLPAEKEVGPPLPQEAVPLQKELPSL
QHPNEQKEGTPAPFGDQSHPEPESWNAAQHCQQDRSQGGWGHRLDGFPPGRPSPDNLNQI
CLPNRQHVVYGPWNLPQSSYSHLTRQGETLNFLEIGYSRCCHCRSHTNRLECAKLVWEEA
MSRFCEAEFSVKTRPHWCCTRQGEARFSCFQEEAPQPHYQLRACPSHQPDISSGLELPFP
PGVPTLDNIKNICHLRRFRSVPRNLPATDPLQRELLALIQLEREFQRCCRQGNNHTCTWK
AWEDTLDKYCDREYAVKTHHHLCCRHPPSPTRDECFARRAPYPNYDRDILTIDIGRVTPN
LMGHLCGNQRVLTKHKHIPGLIHNMTARCCDLPFPEQACCAEEEKLTFINDLCGPRRNIW
RDPALCCYLSPGDEQVNCFNINYLRNVALVSGDTENAKGQGEQGSTGGTNISSTSEPKEE

Sequence length

540

Interactions

View interactions

	Reactome
			Platelet degranulation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ECM1-related disorder	Likely pathogenic; Pathogenic	rs768474010, rs869025565, rs2526403709	RCV003393982 RCV003401118 RCV003400146
Lipid proteinosis	Likely pathogenic; Pathogenic	rs768474010, rs756977475, rs2101440353, rs2101440055, rs867426247, rs766844065, rs869025564, rs869025565, rs778473713, rs121909114, rs121909115, rs121909116, rs1560265435, rs762669789, rs2526412851, rs1560267428, rs1670380730 View all (2 more)	RCV001780259 RCV001554299 RCV002052273 RCV002250900 RCV002464973 RCV002468703 RCV000208556 RCV000208549 RCV000007897 RCV000007898 RCV000007901 RCV000007902 RCV000007903 RCV003337853 RCV003988667 RCV000714805 RCV001195791

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs376927252	RCV005903092
Autism	Uncertain significance	rs369508778	RCV004698550
Familial cancer of breast	Benign	rs9661040	RCV005918286
Melanoma	Conflicting classifications of pathogenicity	rs376927252	RCV005903094
Sarcoma	Uncertain significance	rs375534923	RCV005911093
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs376927252	RCV005903093

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acrodermatitis	Associate	20666665
Anaphylaxis	Associate	24708644
Aortic Aneurysm Abdominal	Associate	40008516
Asthma	Stimulate	37809092
Bone Diseases	Associate	38574990
Bone Diseases Metabolic	Associate	38574990
Breast Neoplasms	Associate	22284579, 27770373, 28160560
Carcinogenesis	Associate	24779890
Carcinoma	Associate	24023917
Carcinoma Hepatocellular	Associate	25517360, 27460906, 32311840, 35715992, 36299684
Carcinoma Non Small Cell Lung	Stimulate	30407700
Carcinoma Pancreatic Ductal	Associate	38613239
Carcinoma Renal Cell	Associate	25184692
Colitis Ulcerative	Associate	18438406, 19068216, 20117335, 28699600
Crohn Disease	Associate	18438406, 31058681
Diabetes Gestational	Associate	32111749
Disease	Associate	31058681
Endometrial Neoplasms	Associate	36807337
Fibrosis	Associate	31058681
Fragile X Syndrome	Associate	38574990
Glomerulonephritis IGA	Stimulate	31726998
Hepatitis B	Associate	36299684
Hoarseness	Associate	21349189, 24708644
Kidney Diseases	Associate	35870194
Laryngeal Diseases	Associate	23696932
Laryngeal Neoplasms	Associate	23696932, 25824756
Lichen Sclerosus et Atrophicus	Inhibit	21718371
Lichen Sclerosus et Atrophicus	Associate	26039953
Lipoid Proteinosis of Urbach and Wiethe	Associate	12603844, 17721643, 18200062, 19696137, 20666665, 21349189, 21791056, 23212332, 24708644, 27241643, 33441084, 34544637
Liver Diseases	Associate	36299684
Lupus Erythematosus Systemic	Associate	35870194
Lupus Nephritis	Associate	35870194
Lymphatic Metastasis	Associate	22284579, 23696932, 24779890
Lymphohistiocytosis Hemophagocytic	Associate	37653176
Melanoma	Associate	24023917
Neoplasm Metastasis	Associate	19146682, 23696932, 25824756
Neoplasms	Associate	16135921, 16688775, 22284579, 24779890, 25812648, 25824756, 29858602, 30407700, 33416152, 35715992, 36145166, 38613239, 39639242
Neoplasms	Inhibit	25517360, 37741817
Neoplasms Squamous Cell	Inhibit	21718371
NOG Related Symphalangism Spectrum Disorder	Associate	31058681
Osteoarthritis	Stimulate	39261869
Osteoarthritis Hip	Stimulate	39261869
Osteoporosis	Associate	38574990
Ovarian Neoplasms	Associate	36145166
Pancreatic Neoplasms	Associate	38613239
Precancerous Conditions	Associate	23696932
Prostatic Neoplasms	Associate	29858602
Prostatitis	Associate	29858602
Retinoblastoma	Associate	32401301
Stomach Neoplasms	Associate	24779890
Thyroid Cancer Papillary	Associate	20824721, 32610693
Thyroid Diseases	Associate	25812648
Thyroid Neoplasms	Associate	16135921
Thyroid Nodule	Associate	25812648
Triple Negative Breast Neoplasms	Associate	40545963

ECM1 (extracellular matrix protein 1)