SMTN

Protein-coding gene in the species Homo sapiens
SMTN
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2D87

Identifiers
AliasesSMTN, smoothelin
External IDsOMIM: 602127; MGI: 1354727; HomoloGene: 8482; GeneCards: SMTN; OMA:SMTN - orthologs
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for SMTN
Genomic location for SMTN
Band22q12.2Start31,064,105 bp[1]
End31,104,757 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for SMTN
Genomic location for SMTN
Band11|11 A1Start3,467,523 bp[2]
End3,490,612 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastric mucosa

  • popliteal artery

  • tibial arteries

  • muscle layer of sigmoid colon

  • body of uterus

  • apex of heart

  • left uterine tube

  • Descending thoracic aorta

  • ascending aorta

  • right coronary artery
Top expressed in
  • tunica media of zone of aorta

  • ascending aorta

  • uterus

  • lip

  • aortic valve

  • temporal muscle

  • digastric muscle

  • sternocleidomastoid muscle

  • triceps brachii muscle

  • muscle of thigh
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • actin binding
  • structural constituent of muscle
Cellular component
  • cytoplasm
  • cytoskeleton
  • actin cytoskeleton
  • microtubule organizing center
  • filamentous actin
  • nucleoplasm
Biological process
  • smooth muscle contraction
  • muscle organ development
  • actin cytoskeleton organization
Sources:Amigo / QuickGO
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_001193946
NP_001193947
NP_008863
NP_599031
NP_599032

NP_001369567
NP_001369568
NP_001369569
NP_001369570
NP_001369571
NP_001369572
NP_001369573
NP_001369574
NP_001369575
NP_001369576
NP_001369577

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

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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000183963 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: SMTN smoothelin".

Further reading

  • Luft FC (1999). "Differentiating one smooth operator from another". J. Mol. Med. 77 (2): 255–7. doi:10.1007/s001090050347. PMID 10023778. S2CID 20566620.
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • van Eys GJ, Völler MC, Timmer ED, et al. (1997). "Smoothelin expression characteristics: development of a smooth muscle cell in vitro system and identification of a vascular variant". Cell Struct. Funct. 22 (1): 65–72. doi:10.1247/csf.22.65. hdl:2066/28540. PMID 9113392.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Sanger Centre, The; Washington University Genome Sequencing Cente, The (1999). "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. doi:10.1101/gr.8.11.1097. PMID 9847074.
  • Krämer J, Aguirre-Arteta AM, Thiel C, et al. (1999). "A novel isoform of the smooth muscle cell differentiation marker smoothelin". J. Mol. Med. 77 (2): 294–8. doi:10.1007/s001090050352. PMID 10023782. S2CID 3017418.
  • Johansson B, Eriksson A, Ramaekers F, Thornell L (2000). "Smoothelin in adult and developing human arteries and myocardium". Histochem. Cell Biol. 112 (4): 291–9. doi:10.1007/s004180050450. PMID 10550614. S2CID 10117431.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  • Gsell S, Eschenhagen T, Kaspareit G, et al. (2000). "Apparent up-regulation of stimulatory G-protein alpha subunits in the pregnant human myometrium is mimicked by elevated smoothelin expression". FASEB J. 14 (1): 17–26. doi:10.1096/fasebj.14.1.17. PMID 10627276. S2CID 15796476.
  • Krämer J, Quensel C, Meding J, et al. (2001). "Identification and characterization of novel smoothelin isoforms in vascular smooth muscle". J. Vasc. Res. 38 (2): 120–32. doi:10.1159/000051039. PMID 11316948. S2CID 1988528.
  • Rensen SS, Thijssen VL, De Vries CJ, et al. (2002). "Expression of the smoothelin gene is mediated by alternative promoters". Cardiovasc. Res. 55 (4): 850–63. doi:10.1016/S0008-6363(02)00491-1. PMID 12176134.
  • 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.
  • 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.
  • Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
  • Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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  • 2d87: Solution structure of the CH domain from human Smoothelin splice isoform L2
    2d87: Solution structure of the CH domain from human Smoothelin splice isoform L2
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