TMEM47

TMEM47
Identifiers
AliasesTMEM47, BCMP1, TM4SF10, transmembrane protein 47, VAB-9
External IDsMGI: 2177570 HomoloGene: 41830 GeneCards: TMEM47
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp21.1Start34,627,064 bp[1]
End34,657,288 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

83604

192216

Ensembl

ENSG00000147027

ENSMUSG00000025666

UniProt

Q9BQJ4

Q9JJG6

RefSeq (mRNA)

NM_031442

NM_138751

RefSeq (protein)

NP_113630

NP_620090

Location (UCSC)Chr X: 34.63 – 34.66 MbChr X: 81.07 – 81.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.[5][6]

Function

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain.[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000147027 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025666 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Christophe-Hobertus C, Szpirer C, Guyon R, Christophe D (Jul 2003). "Identification of the gene encoding Brain Cell Membrane Protein 1 (BCMP1), a putative four-transmembrane protein distantly related to the Peripheral Myelin Protein 22 / Epithelial Membrane Proteins and the Claudins". BMC Genomics. 2: 3. doi:10.1186/1471-2164-2-3. PMC 35279. PMID 11472633.
  6. 1 2 "Entrez Gene: TMEM47 transmembrane protein 47".

Further reading

  • Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
  • Christophe-Hobertus C, Kooy F, Gecz J, Abramowicz MJ, Holinski-Feder E, Schwartz C, Christophe D (Sep 2004). "TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation". BMC Medical Genetics. 5: 22. doi:10.1186/1471-2350-5-22. PMC 517934. PMID 15345028.
  • Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
  • Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.


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