SMTN

Smoothelin is a protein that in humans is encoded by the SMTN gene.[5][6][7]

SMTN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMTN, smoothelin
External IDsOMIM: 602127 MGI: 1354727 HomoloGene: 8482 GeneCards: SMTN
Orthologs
SpeciesHumanMouse
Entrez

6525

29856

Ensembl

ENSG00000183963

ENSMUSG00000020439

UniProt

P53814

Q921U8

RefSeq (mRNA)

NM_001207017
NM_001207018
NM_006932
NM_134269
NM_134270

NM_001159284
NM_001284427
NM_001284428
NM_001284429
NM_013870

RefSeq (protein)

NP_001152756
NP_001271356
NP_001271357
NP_001271358
NP_038898

Location (UCSC)Chr 22: 31.06 – 31.1 MbChr 11: 3.47 – 3.49 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a structural protein that is found exclusively in contractile smooth muscle cells. It associates with stress fibers and constitutes part of the cytoskeleton. This gene is localized to chromosome 22q12.3, distal to the TUPLE1 locus and outside the DiGeorge syndrome deletion. Alternative splicing of this gene results in three transcript variants.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000183963 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000020439 - Ensembl, 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. Engelen JJ, Esterling LE, Albrechts JC, Detera-Wadleigh SD, van Eys GJ (Sep 1997). "Assignment of the human gene for smoothelin (SMTN) to chromosome 22q12 by fluorescence in situ hybridization and radiation hybrid mapping". Genomics. 43 (2): 245–7. doi:10.1006/geno.1997.9999. PMID 9244445.
  6. van der Loop FT, Schaart G, Timmer ED, Ramaekers FC, van Eys GJ (Sep 1996). "Smoothelin, a novel cytoskeletal protein specific for smooth muscle cells". J Cell Biol. 134 (2): 401–11. doi:10.1083/jcb.134.2.401. PMC 2120883. PMID 8707825.
  7. "Entrez Gene: SMTN smoothelin".

Further reading

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