SLC52A3

Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the SLC52A3 gene.[5][6]

SLC52A3
Identifiers
AliasesSLC52A3, BVVLS, BVVLS1, C20orf54, RFT2, RFVT3, bA371L19.1, hRFT2, solute carrier family 52 member 3
External IDsOMIM: 613350 MGI: 1916948 HomoloGene: 12324 GeneCards: SLC52A3
Orthologs
SpeciesHumanMouse
Entrez

113278

69698

Ensembl

ENSG00000101276

ENSMUSG00000027463

UniProt

Q9NQ40

Q9D6X5

RefSeq (mRNA)

NM_033409
NM_001370085
NM_001370086

NM_001164819
NM_001164820
NM_027172

RefSeq (protein)

NP_212134
NP_001357014
NP_001357015

NP_001158291
NP_001158292
NP_081448

Location (UCSC)Chr 20: 0.76 – 0.78 MbChr 2: 151.84 – 151.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.[5][6]

Clinical significance

Mutations at this locus have been associated with Fazio–Londe disease and Brown-Vialetto-Van Laere syndrome.[7][8]

Model organisms

Model organisms have been used in the study of C20orf54 function. The orthologous gene in mice is called 2310046K01Rik. A conditional knockout mouse line, called 2310046K01Riktm2a(KOMP)Wtsi[15][16] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[17][18][19]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[13][20] Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.[13] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and males had an increased mean corpuscular haemoglobin concentration.[13]

References

  1. GRCh38: Ensembl release 89: ENSG00000101276 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027463 - 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. "Entrez Gene: chromosome 20 open reading frame 54".
  6. Yamamoto S, Inoue K, Ohta KY, Fukatsu R, Maeda JY, Yoshida Y, Yuasa H (April 2009). "Identification and functional characterization of rat riboflavin transporter 2". J. Biochem. 145 (4): 437–43. doi:10.1093/jb/mvn181. PMID 19122205.
  7. Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (March 2010). "Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54". Am. J. Hum. Genet. 86 (3): 485–9. doi:10.1016/j.ajhg.2010.02.006. PMC 2833371. PMID 20206331.
  8. Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB (October 2010). "Exome sequencing in Brown-Vialetto-van Laere syndrome". Am. J. Hum. Genet. 87 (4): 567–9, author reply 569–70. doi:10.1016/j.ajhg.2010.05.021. PMC 2948797. PMID 20920669.
  9. "Dysmorphology data for 2310046K01Rik". Wellcome Trust Sanger Institute.
  10. "Haematology data for 2310046K01Rik". Wellcome Trust Sanger Institute.
  11. "Salmonella infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.
  12. "Citrobacter infection data for 2310046K01Rik". Wellcome Trust Sanger Institute.
  13. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  14. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  15. "International Knockout Mouse Consortium".
  16. "Mouse Genome Informatics".
  17. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  18. Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  19. Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  20. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

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