TMEM47

TMEM47
Identifiers
Aliases	TMEM47 , BCMP1, TM4SF10, transmembrane protein 47, VAB-9
External IDs	OMIM: 300698; MGI: 2177570; HomoloGene: 41830; GeneCards: TMEM47; OMA:TMEM47 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xp21.1 Start 34,627,075 bp [1] End 34,657,285 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X B Start 80,114,304 bp [2] End 80,141,478 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus saphenous vein urethra vena cava seminal vesicula superficial temporal artery optic nerve superior vestibular nucleus tail of epididymis thoracic diaphragm Top expressed in median eminence mammillary body arcuate nucleus Epithelium of choroid plexus suprachiasmatic nucleus dorsomedial hypothalamic nucleus ventromedial nucleus paraventricular nucleus of hypothalamus lateral septal nucleus habenula 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 Species Human Mouse 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 Mb Chr X: 80.11 – 80.14 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000147027 – Ensembl, May 2017
2. 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. "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.