Sialin

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; OMA:SLC17A5 - orthologs
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 78,443,770 bp [2] End 78,495,323 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis stromal cell of endometrium mucosa of sigmoid colon germinal epithelium mucosa of ileum jejunal mucosa visceral pleura right lobe of thyroid gland synovial joint islet of Langerhans Top expressed in epithelium of small intestine lacrimal gland parotid gland submandibular gland proximal tubule right kidney renal corpuscle ileum human kidney hand More reference expression data BioGPS 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 plasma 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 proton 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: 78.44 – 78.5 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

• 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. 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

• 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. S2CID   32361537.
• 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. S2CID   5709302.
• 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. S2CID   38913583.
• 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. S2CID   33400818.
• 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. S2CID   42507472.
• 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.