Protein-coding gene in the species Homo sapiens
ECM1 |
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Identifiers |
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Aliases | ECM1, URBWD, extracellular matrix protein 1 |
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External IDs | OMIM: 602201; MGI: 103060; HomoloGene: 3260; GeneCards: ECM1; OMA:ECM1 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 1 (human)[1] |
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| Band | 1q21.2 | Start | 150,508,062 bp[1] |
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End | 150,513,789 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 3 (mouse)[2] |
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| Band | 3 F2.1|3 40.91 cM | Start | 95,641,459 bp[2] |
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End | 95,646,881 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - buccal mucosa cell
- mucosa of pharynx
- stromal cell of endometrium
- oral cavity
- tail of epididymis
- gallbladder
- amniotic fluid
- body of tongue
- epithelium of esophagus
- corpus epididymis
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| Top expressed in | - esophagus
- adrenal gland
- urinary bladder
- lip
- zone of skin
- white adipose tissue
- human kidney
- right kidney
- liver
- duodenum
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| More reference expression data |
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BioGPS | | More reference expression data |
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Gene ontology |
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Molecular function | - interleukin-2 receptor binding
- signal transducer activity
- protease binding
- protein C-terminus binding
- protein binding
- enzyme binding
- laminin binding
| Cellular component | - extracellular matrix
- extracellular exosome
- extracellular region
- platelet dense granule lumen
- extracellular space
| Biological process | - regulation of T cell migration
- negative regulation of peptidase activity
- negative regulation of bone mineralization
- positive regulation of endothelial cell proliferation
- ossification
- regulation of bone mineralization
- regulation of transcription by RNA polymerase II
- biomineral tissue development
- negative regulation of cytokine-mediated signaling pathway
- positive regulation of angiogenesis
- angiogenesis
- positive regulation of I-kappaB kinase/NF-kappaB signaling
- inflammatory response
- regulation of type 2 immune response
- platelet degranulation
- signal transduction
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_022664 NM_001202858 NM_004425 |
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NM_001252653 NM_007899 NM_001355070 |
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RefSeq (protein) | |
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NP_001189787 NP_004416 NP_073155 |
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NP_001239582 NP_031925 NP_001341999 |
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Location (UCSC) | Chr 1: 150.51 – 150.51 Mb | Chr 3: 95.64 – 95.65 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.[5][6][7]
This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin protein family. This gene maps outside the epidermal differentiation complex (EDC), a cluster of three gene families involved in epidermal differentiation. Alternatively spliced transcript variants encoding distinct isoforms have been described.[7]
Diseases
ECM1 is implicated in breast cancer, thyroid cancer, hepatocellular carcinoma, and other cancers, and also in ulcerative colitis[8] Germline mutations in ECM-1 cause the genetic disease lipoid proteinosis. Autoimmune attack on ECM-1 is responsible for lichen sclerosus.(see the Atlas of Genetics and Cytogenetics in Oncology and Haematology,[9]).
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000143369 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028108 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (Jan 1998). "The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern, and chromosomal localization". Genomics. 45 (3): 487–95. doi:10.1006/geno.1997.4918. PMID 9367673.
- ^ Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (May 1998). "Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21". Matrix Biol. 16 (5): 289–92. doi:10.1016/S0945-053X(97)90017-2. PMID 9501329.
- ^ a b "Entrez Gene: ECM1 extracellular matrix protein 1".
- ^ "ECM1 (Extracellular matrix protein 1)".
- ^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.
Further reading
- Viliavin GD, Panchenko KP, Nishanov F, Budaev KD (1978). "[Acid-producing function of the stomach in pyloric ulcers]". Sovetskaia Meditsina (12): 43–5. PMID 601588.
- Smits P, Poumay Y, Karperien M, et al. (2000). "Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes". J. Invest. Dermatol. 114 (4): 718–24. doi:10.1046/j.1523-1747.2000.00916.x. PMID 10733679.
- Hamada T, McLean WH, Ramsay M, et al. (2002). "Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)". Hum. Mol. Genet. 11 (7): 833–40. doi:10.1093/hmg/11.7.833. PMID 11929856.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Hamada T, Wessagowit V, South AP, et al. (2003). "Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation". J. Invest. Dermatol. 120 (3): 345–50. doi:10.1046/j.1523-1747.2003.12073.x. PMID 12603844.
- Matsuda A, Suzuki Y, Honda G, et al. (2003). "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways". Oncogene. 22 (21): 3307–18. doi:10.1038/sj.onc.1206406. PMID 12761501.
- Wang L, Yu J, Ni J, et al. (2003). "Extracellular matrix protein 1 (ECM1) is over-expressed in malignant epithelial tumors". Cancer Lett. 200 (1): 57–67. doi:10.1016/S0304-3835(03)00350-1. PMID 14550953.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Horev L, Potikha T, Ayalon S, et al. (2006). "A novel splice-site mutation in ECM-1 gene in a consanguineous family with lipoid proteinosis". Exp. Dermatol. 14 (12): 891–7. doi:10.1111/j.1600-0625.2005.00374.x. PMID 16274456. S2CID 25598548.
- Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
- Fujimoto N, Terlizzi J, Aho S, et al. (2006). "Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions". Exp. Dermatol. 15 (4): 300–7. doi:10.1111/j.0906-6705.2006.00409.x. PMID 16512877. S2CID 40715604.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569. S2CID 13709685.
- Han B, Zhang X, Liu Q, et al. (2007). "Homozygous missense mutation in the ECM1 gene in Chinese siblings with lipoid proteinosis". Acta Derm. Venereol. 87 (5): 387–9. doi:10.2340/00015555-0292. PMID 17721643.
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