Sialin

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]

SLC17A5
Identifiers
Aliases	SLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
External IDs	OMIM: 604322 MGI: 1924105 HomoloGene: 56571 GeneCards: SLC17A5
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q13 Start 73,593,379 bp[1] End 73,653,992 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 E1 Start 78,536,488 bp[2] End 78,588,041 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • carbohydrate:proton symporter activity • sialic acid transmembrane transporter activity • symporter activity • sialic acid:proton symporter activity Cellular component • integral component of membrane • membrane • cell membrane • synapse • integral component of plasma membrane • synaptic vesicle membrane • lysosomal membrane • cell junction • lysosome • cytoplasmic vesicle • cytosol Biological process • sialic acid transport • ion transport • anion transport • amino acid transport • transmembrane transport • carboxylic acid transmembrane transport • transport • response to bacterium • carbohydrate transmembrane transport • hydrogen ion transmembrane transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	26503	235504
Ensembl	ENSG00000119899	ENSMUSG00000049624
UniProt	Q9NRA2	Q8BN82
RefSeq (mRNA)	NM_012434	NM_001276452 NM_172773
RefSeq (protein)	NP_036566 NP_001369558 NP_001369559 NP_001369560 NP_001369561 NP_001369562 NP_001369563 NP_001369564 NP_001369565	NP_001263381 NP_766361
Location (UCSC)	Chr 6: 73.59 – 73.65 Mb	Chr 9: 78.54 – 78.59 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000119899 - Ensembl, May 2017
2. 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. 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.
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. https://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
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

• Lemyre E, Russo P, Melançon SB, et al. (1999). "Clinical spectrum of infantile free sialic acid storage disease". Am. J. Med. Genet. 82 (5): 385–91. doi:10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3. PMID 10069709.
• Winchester BG (2001). "Lysosomal membrane proteins". Eur. J. Paediatr. Neurol. 5 Suppl A: 11–9. doi:10.1053/ejpn.2000.0428. PMID 11588980.
• Mancini GM, Beerens CE, Aula PP, Verheijen FW (1991). "Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides". J. Clin. Invest. 87 (4): 1329–35. doi:10.1172/JCI115136. PMC 295166. PMID 2010546.
• Cameron PD, Dubowitz V, Besley GT, Fensom AH (1990). "Sialic acid storage disease". Arch. Dis. Child. 65 (3): 314–5. doi:10.1136/adc.65.3.314. PMC 1792249. PMID 2334213.
• Tondeur M, Libert J, Vamos E, et al. (1983). "Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings". Eur. J. Pediatr. 139 (2): 142–7. doi:10.1007/BF00441499. PMID 7151835.
• Schleutker J, Laine AP, Haataja L, et al. (1995). "Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15". Genomics. 27 (2): 286–92. doi:10.1006/geno.1995.1044. PMID 7557994.
• Berra B, Gornati R, Rapelli S, et al. (1995). "Infantile sialic acid storage disease: biochemical studies". Am. J. Med. Genet. 58 (1): 24–31. doi:10.1002/ajmg.1320580107. PMID 7573152.
• Haataja L, Schleutker J, Laine AP, et al. (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.
• Verheijen FW, Verbeek E, Aula N, et al. (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.
• Aula N, Salomäki P, Timonen R, et al. (2000). "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation". Am. J. Hum. Genet. 67 (4): 832–40. doi:10.1086/303077. PMC 1287888. PMID 10947946.
• Fu C, Bardhan S, Cetateanu ND, et al. (2002). "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis". Clin. Cancer Res. 7 (12): 4182–94. PMID 11751519.
• Biancheri R, Verbeek E, Rossi A, et al. (2003). "An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease". Clin. Genet. 61 (6): 443–7. doi:10.1034/j.1399-0004.2002.610608.x. PMID 12121352.
• Aula N, Jalanko A, Aula P, Peltonen L (2003). "Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin". Mol. Genet. Metab. 77 (1–2): 99–107. doi:10.1016/S1096-7192(02)00124-5. PMID 12359136.
• Martin RA, Slaugh R, Natowicz M, et al. (2004). "Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs". Am. J. Med. Genet. A. 120 (1): 23–7. doi:10.1002/ajmg.a.10246. PMID 12794687.
• Aula N, Kopra O, Jalanko A, Peltonen L (2004). "Sialin expression in the CNS implicates extralysosomal function in neurons". Neurobiol. Dis. 15 (2): 251–61. doi:10.1016/j.nbd.2003.11.017. PMID 15006695.
• Landau D, Cohen D, Shalev H, et al. (2005). "A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred". Mol. Genet. Metab. 82 (2): 167–72. doi:10.1016/j.ymgme.2004.03.005. PMID 15172005.

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