Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5gene.[5][6][7]
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]
^ abcGRCh38: Ensembl release 89: ENSG00000119899 - Ensembl, May 2017
^ abcGRCm38: 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.
^ abVerheijen 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. ISBN978-1-4160-2973-1.
^[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.
Further readingedit
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.
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.
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.
sialin, also, known, nitrate, cotransporter, sialic, acid, cotransporter, protein, which, humans, encoded, slc17a5, gene, slc17a5identifiersaliasesslc17a5, issd, sialin, siasd, solute, carrier, family, member, 5external, idsomim, 604322, 1924105, homologene, 5. 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 SLC17A5IdentifiersAliasesSLC17A5 AST ISSD NSD SD SIALIN SIASD SLD solute carrier family 17 member 5External IDsOMIM 604322 MGI 1924105 HomoloGene 56571 GeneCards SLC17A5Gene location Human Chr Chromosome 6 human 1 Band6q13Start73 593 379 bp 1 End73 653 992 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 E1Start78 443 770 bp 2 End78 495 323 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed incorpus epididymisstromal cell of endometriumgerminal epitheliumjejunal mucosavisceral pleuraright lobe of thyroid glandsynovial jointislet of Langerhanstrachealeft lobe of thyroid glandTop expressed inlacrimal glandparotid glandsubmandibular glandproximal tubulerenal corpuscleileumkidneyhandleft lobe of liverotolith organMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functioncarbohydrate proton symporter activity sialic acid transmembrane transporter activity symporter activity sialic acid proton symporter activityCellular componentintegral component of membrane membrane plasma membrane synapse integral component of plasma membrane synaptic vesicle membrane lysosomal membrane cell junction lysosome cytoplasmic vesicle cytosolBiological processsialic acid transport ion transport anion transport amino acid transport transmembrane transport carboxylic acid transmembrane transport transport response to bacterium carbohydrate transmembrane transport proton transmembrane transportSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez26503235504EnsemblENSG00000119899ENSMUSG00000049624UniProtQ9NRA2Q8BN82RefSeq mRNA NM 012434NM 001276452NM 172773RefSeq protein NP 036566NP 001369558NP 001369559NP 001369560NP 001369561NP 001369562NP 001369563NP 001369564NP 001369565NP 001263381NP 766361Location UCSC Chr 6 73 59 73 65 MbChr 9 78 44 78 5 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Clinical significance 2 See also 3 References 4 Further readingClinical significance editA 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 editSolute carrier familyReferences edit a b c GRCh38 Ensembl release 89 ENSG00000119899 Ensembl May 2017 a b c GRCm38 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 PMC 1918202 PMID 8198127 a b 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 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 PMC 1918202 PMID 8198127 Further reading editLemyre E Russo P Melancon 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 lt 385 AID AJMG6 gt 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 Salomaki 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 nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Sialin amp oldid 1172235886, wikipedia, wiki, book, books, library,
