InnateDB Protein
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IDBP-102126.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ECM1
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Protein Name
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extracellular matrix protein 1
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Synonyms
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URBWD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000271630
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InnateDB Gene
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IDBG-102122 (ECM1)
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Protein Structure
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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:0000269PubMed:11165938, ECO:0000269PubMed:11292659, ECO:0000269PubMed:16512877}.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix.
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Disease Associations |
Lipoid proteinosis (LiP) [MIM:247100]: Rare autosomal recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera. Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. Histologically, there is widespread deposition of hyaline material and disruption/reduplication of basement membrane. {ECO:0000269PubMed:11929856, ECO:0000269PubMed:12603844}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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:0000269PubMed:11292659, ECO:0000269PubMed:12604605}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008605
Extracellular matrix 1
IPR020858
Serum albumin-like
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PFAM |
PF05782
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q16610
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PhosphoSite |
PhosphoSite-Q16610
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1893
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UniGene |
Hs.81071
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RefSeq |
NP_073155
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HUGO |
HGNC:3153
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OMIM |
602201
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CCDS |
CCDS954
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HPRD |
03727
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IMGT |
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EMBL |
AK097046
AK292435
AK301369
AK302279
AL356356
BC023505
CH471121
U65932
U65933
U65934
U65935
U65936
U65937
U65938
U68186
U68187
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GenPept |
AAB05933
AAB05934
AAB88081
AAB88082
AAH23505
BAF85124
BAG53412
BAG62911
BAG63622
CAI15491
CAI15492
CAI15493
EAW53544
EAW53545
EAW53546
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