SLC17A5
Identifiers
AliasesSLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
External IDsOMIM: 604322 MGI: 1924105 HomoloGene: 56571 GeneCards: SLC17A5
Orthologs
SpeciesHumanMouse
Entrez

26503

235504

Ensembl

ENSG00000119899

ENSMUSG00000049624

UniProt

Q9NRA2

Q8BN82

RefSeq (mRNA)

NM_012434

NM_001276452
NM_172773

RefSeq (protein)

NP_001263381
NP_766361

Location (UCSC)Chr 6: 73.59 – 73.65 MbChr 9: 78.44 – 78.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5 gene.[5][6][7]

Clinical significance

A deficiency of this protein causes Salla disease.[7][8] and Infantile Sialic Acid Storage Disease (ISSD).

The gene for HP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 gene on Chromosome 6[9][10][11]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000119899 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049624 - 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: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".
  6. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (June 1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". Am. J. Hum. Genet. 54 (6): 1042–9. PMC 1918202. PMID 8198127.
  7. 1 2 Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM (December 1999). "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5. doi:10.1038/70585. PMID 10581036. S2CID 5709302.
  8. Mitchell, Richard Sheppard; Kumar, Vinay; Robbins, Stanley L.; Abbas, Abul K.; Fausto, Nelson (2007). "Table 7-6". Robbins basic pathology (8th ed.). Saunders/Elsevier. ISBN 978-1-4160-2973-1.
  9. "Homo sapiens chromosome 6 genomic contig, GRCh37.p13 Primary Assembly". 13 August 2013.
  10. "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
  11. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". American Journal of Human Genetics. 54 (6): 1042–9. PMC 1918202. PMID 8198127.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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