TMEM47

Protein-coding gene in the species Homo sapiens
TMEM47
Identifiers
AliasesTMEM47, BCMP1, TM4SF10, transmembrane protein 47, VAB-9
External IDsOMIM: 300698; MGI: 2177570; HomoloGene: 41830; GeneCards: TMEM47; OMA:TMEM47 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for TMEM47
Genomic location for TMEM47
BandXp21.1Start34,627,075 bp[1]
End34,657,285 bp[1]
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)[2]
X chromosome (mouse)
Genomic location for TMEM47
Genomic location for TMEM47
BandX|X BStart80,114,304 bp[2]
End80,141,478 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • saphenous vein

  • urethra

  • vena cava

  • seminal vesicula

  • superficial temporal artery

  • optic nerve

  • superior vestibular nucleus

  • thoracic diaphragm

  • Region I of hippocampus proper

  • right coronary artery
Top expressed in
  • median eminence

  • mammillary body

  • arcuate nucleus

  • suprachiasmatic nucleus

  • dorsomedial hypothalamic nucleus

  • ventromedial nucleus

  • paraventricular nucleus of hypothalamus

  • habenula

  • ventral tegmental area

  • globus pallidus
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • molecular function
Cellular component
  • plasma membrane
  • membrane
  • integral component of membrane
  • cell-cell junction
  • adherens junction
  • cell junction
Biological process
  • biological process
Sources:Amigo / QuickGO
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: 80.11 – 80.14 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. ^ a b c GRCh38: Ensembl release 89: ENSG00000147027 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025666 – 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. ^ 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. ^ a b "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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