ECM1
Identifiers
AliasesECM1, URBWD, extracellular matrix protein 1
External IDsOMIM: 602201; MGI: 103060; HomoloGene: 3260; GeneCards: ECM1; OMA:ECM1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022664
NM_001202858
NM_004425

NM_001252653
NM_007899
NM_001355070

RefSeq (protein)

NP_001189787
NP_004416
NP_073155

NP_001239582
NP_031925
NP_001341999

Location (UCSC)Chr 1: 150.51 – 150.51 MbChr 3: 95.64 – 95.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000143369Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028108Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ a b "Entrez Gene: ECM1 extracellular matrix protein 1".
  8. ^ "ECM1 (Extracellular matrix protein 1)".
  9. ^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org.

Further reading