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)
End	73,653,992bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	78,495,323bp
RNA expressionpattern
	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
	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
	26503
	235504
	ENSG00000119899
	ENSMUSG00000049624
	Q9NRA2
	Q8BN82
	NM_012434
	NM_001276452; NM_172773
NP_036566; NP_001369558; NP_001369559; NP_001369560; NP_001369561;
	NP_001369562; NP_001369563; NP_001369564; NP_001369565
	NP_001263381; NP_766361
	Wikidata
View/Edit Human	View/Edit Mouse

Sialin,also known asH(+)/nitrate cotransporterandH(+)/sialic acid cotransporter,is aproteinwhich in humans is encoded by theSLC17A5gene.^[5]^[6]^[7]

Clinical significance

A deficiency of this protein causesSalla disease.^[7]^[8]andInfantile Sialic Acid Storage Disease (ISSD).

The gene forHP59contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is alysosomalmembranesialic acidtransport protein which in humans is encoded by the SLC17A5 gene onChromosome 6^[9]^[10]^[11]

References

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000119899–Ensembl,May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000049624–Ensembl,May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".
^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.PMC1918202.PMID 8198127.
^^a ^bVerheijen 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.
^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.
^"Homo sapiens chromosome 6 genomic contig, GRCh37.p13 Primary Assembly".13 August 2013.
^[1]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
^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.PMC1918202.PMID 8198127.

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.PMC295166.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.PMC1792249.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.PMC1918202.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.PMC1287888.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 theUnited States National Library of Medicine,which is in thepublic domain.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000119899–Ensembl,May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".

[pmid8198127-6] 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.PMC1918202.PMID 8198127.

[pmid10581036-7] 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.

[isbn1-4160-2973-7-8] 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] [1]"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.PMC1918202.PMID 8198127.

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Sialin

Clinical significance

See also

References

Further reading