Extracellular matrix protein 1

From Wikipedia, the free encyclopedia
  (Redirected from ECM1)
Jump to: navigation, search
ECM1
Identifiers
Aliases ECM1, URBWD, extracellular matrix protein 1
External IDs MGI: 103060 HomoloGene: 3260 GeneCards: ECM1
RNA expression pattern
PBB GE ECM1 209365 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022664
NM_001202858
NM_004425

NM_001252653
NM_007899

RefSeq (protein)

NP_001189787
NP_004416
NP_073155

NP_031925.2
NP_001239582
NP_031925

Location (UCSC) Chr 1: 150.51 – 150.51 Mb Chr 3: 95.73 – 95.74 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Extracellular matrix protein 1 is a protein that in humans is encoded by the ECM1 gene.[3][4][5]

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.[5]

Diseases[edit]

ECM1 is implicated in breast cancer, thyroid cancer, hepatocellular carcinoma, and other cancers, and also in ulcerative colitis[6] 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,[7]).

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: ECM1 extracellular matrix protein 1". 
  6. ^ http://atlasgeneticsoncology.org/Genes/ECM1ID40398ch1q21.html
  7. ^ "Atlas of Genetics and Cytogenetics in Oncology and Haematology". atlasgeneticsoncology.org. 

Further reading[edit]