ECM1 (extracellular matrix protein 1)

Gene

• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT734173	hsa-miR-193a-5p	Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32489562

Transcription factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 602201
• HGNC: 3153
• e!Ensembl: ENSG00000143369

Protein

• UniProt ID: 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

Pathways

Reactome:

Platelet degranulation

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