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{{Infobox_gene}}
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'''Solute carrier family 17 (anion/sugar transporter), member 5''', also known as '''SLC17A5''' or '''sialin''', is a [[protein]] which in humans is encoded by the ''SLC17A5'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503| accessdate = }}</ref><ref name="pmid8198127">{{cite journal | vauthors = Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P | title = The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6 | journal = Am. J. Hum. Genet. | volume = 54 | issue = 6 | pages = 1042–9 | date = June 1994 | pmid = 8198127 | pmc = 1918202 | doi =  | url =  | issn =  }}</ref><ref name="pmid10581036">{{cite journal | vauthors = Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM | title = A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases | journal = Nat. Genet. | volume = 23 | issue = 4 | pages = 462–5 | date = December 1999 | pmid = 10581036 | doi = 10.1038/70585 | url = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Clinical significance ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Solute carrier family 17 (anion/sugar transporter), member 5
| HGNCid = 10933
| Symbol = SLC17A5
| AltSymbols =; SD; AST; FLJ22227; FLJ23268; ISSD; NSD; SIALIN; SIASD; SLD
| OMIM = 604322
| ECnumber = 
| Homologene = 56571
| MGIid = 1924105
| GeneAtlas_image1 = PBB_GE_SLC17A5_221041_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005215 |text = transporter activity}} {{GNF_GO|id=GO:0005403 |text = hydrogen:sugar symporter activity}} {{GNF_GO|id=GO:0015293 |text = symporter activity}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005765 |text = lysosomal membrane}} {{GNF_GO|id=GO:0005886 |text = plasma membrane}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016023 |text = cytoplasmic membrane-bound vesicle}}
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006820 |text = anion transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 26503
    | Hs_Ensembl = ENSG00000119899
    | Hs_RefseqProtein = NP_036566
    | Hs_RefseqmRNA = NM_012434
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 74359823
    | Hs_GenLoc_end = 74420599
    | Hs_Uniprot = Q9NRA2
    | Mm_EntrezGene = 235504
    | Mm_Ensembl = ENSMUSG00000049624
    | Mm_RefseqmRNA = NM_172773
    | Mm_RefseqProtein = NP_766361
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 78322193
    | Mm_GenLoc_end = 78373711
    | Mm_Uniprot = Q8BN82
  }}
}}
'''Solute carrier family 17 (anion/sugar transporter), member 5''', also known as '''SLC17A5''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
A deficiency of this protein causes [[Salla disease]].<ref name="pmid10581036"/><ref name="isbn1-4160-2973-7">{{cite book |author1=Mitchell, Richard Sheppard |author2=Kumar, Vinay |author3=Robbins, Stanley L. |author4=Abbas, Abul K. |author5=Fausto, Nelson | title = Robbins basic pathology | edition = 8th | publisher = Saunders/Elsevier | location = | year = 2007 | origyear = | pages =  | chapter = Table 7-6 | quote = | isbn = 1-4160-2973-7 | oclc = | doi = | url = | accessdate = }}</ref>
{{PBB_Summary
| section_title =  
| summary_text =  
}}


==See also==
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]]<ref>https://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911</ref><ref>[https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"</ref><ref>{{cite journal | vauthors = Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P | title = The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6 | journal = American Journal of Human Genetics | volume = 54 | issue = 6 | pages = 1042–9 | year = 1994 | pmid = 8198127 | pmc = 1918202 }}</ref>
 
== See also ==
* [[Solute carrier family]]
* [[Solute carrier family]]


==References==
== References ==
{{reflist|2}}
{{reflist|colwidth=30em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M | title = Clinical spectrum of infantile free sialic acid storage disease | journal = Am. J. Med. Genet. | volume = 82 | issue = 5 | pages = 385–91 | year = 1999 | pmid = 10069709 | doi = 10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3 | author-separator =  | displayauthors = 3 }}
| citations =
* {{cite journal | vauthors = Winchester BG | title = Lysosomal membrane proteins. | journal = Eur. J. Paediatr. Neurol. | volume = 5 Suppl A | issue =  | pages = 11–9 | year = 2001 | pmid = 11588980 | doi = 10.1053/ejpn.2000.0428 }}
*{{cite journal | author=Lemyre E, Russo P, Melançon SB, ''et al.'' |title=Clinical spectrum of infantile free sialic acid storage disease. |journal=Am. J. Med. Genet. |volume=82 |issue= 5 |pages= 385-91 |year= 1999 |pmid= 10069709 |doi=  }}
* {{cite journal | vauthors = Mancini GM, Beerens CE, Aula PP, Verheijen FW | title = Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. | journal = J. Clin. Invest. | volume = 87 | issue = 4 | pages = 1329–35 | year = 1991 | pmid = 2010546 | pmc = 295166 | doi = 10.1172/JCI115136 }}
*{{cite journal | author=Winchester BG |title=Lysosomal membrane proteins. |journal=Eur. J. Paediatr. Neurol. |volume=5 Suppl A |issue=  |pages= 11-9 |year= 2001 |pmid= 11588980 |doi= }}
* {{cite journal | vauthors = Cameron PD, Dubowitz V, Besley GT, Fensom AH | title = Sialic acid storage disease. | journal = Arch. Dis. Child. | volume = 65 | issue = 3 | pages = 314–5 | year = 1990 | pmid = 2334213 | pmc = 1792249 | doi = 10.1136/adc.65.3.314 }}
*{{cite journal | author=Mancini GM, Beerens CE, Aula PP, Verheijen FW |title=Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. |journal=J. Clin. Invest. |volume=87 |issue= 4 |pages= 1329-35 |year= 1991 |pmid= 2010546 |doi= }}
* {{cite journal | vauthors = Tondeur M, Libert J, Vamos E, Van Hoof F, Thomas GH, Strecker G | title = Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings | journal = Eur. J. Pediatr. | volume = 139 | issue = 2 | pages = 142–7 | year = 1983 | pmid = 7151835 | doi = 10.1007/BF00441499 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Cameron PD, Dubowitz V, Besley GT, Fensom AH |title=Sialic acid storage disease. |journal=Arch. Dis. Child. |volume=65 |issue= 3 |pages= 314-5 |year= 1990 |pmid= 2334213 |doi= }}
* {{cite journal | vauthors = Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L | title = Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15 | journal = Genomics | volume = 27 | issue = 2 | pages = 286–92 | year = 1995 | pmid = 7557994 | doi = 10.1006/geno.1995.1044 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Tondeur M, Libert J, Vamos E, ''et al.'' |title=Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. |journal=Eur. J. Pediatr. |volume=139 |issue= 2 |pages= 142-7 |year= 1983 |pmid= 7151835 |doi=  }}
* {{cite journal | vauthors = Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B | title = Infantile sialic acid storage disease: biochemical studies | journal = Am. J. Med. Genet. | volume = 58 | issue = 1 | pages = 24–31 | year = 1995 | pmid = 7573152 | doi = 10.1002/ajmg.1320580107 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Schleutker J, Laine AP, Haataja L, ''et al.'' |title=Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15. |journal=Genomics |volume=27 |issue= 2 |pages= 286-92 |year= 1995 |pmid= 7557994 |doi= 10.1006/geno.1995.1044 }}
* {{cite journal | vauthors = Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P | title = The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6 | journal = Am. J. Hum. Genet. | volume = 54 | issue = 6 | pages = 1042–9 | year = 1994 | pmid = 8198127 | pmc = 1918202 | doi =  | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Berra B, Gornati R, Rapelli S, ''et al.'' |title=Infantile sialic acid storage disease: biochemical studies. |journal=Am. J. Med. Genet. |volume=58 |issue= 1 |pages= 24-31 |year= 1995 |pmid= 7573152 |doi= 10.1002/ajmg.1320580107 }}
* {{cite journal | vauthors = Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM | title = A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases | journal = Nat. Genet. | volume = 23 | issue = 4 | pages = 462–5 | year = 1999 | pmid = 10581036 | doi = 10.1038/70585 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Haataja L, Schleutker J, Laine AP, ''et al.'' |title=The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6. |journal=Am. J. Hum. Genet. |volume=54 |issue= 6 |pages= 1042-9 |year= 1994 |pmid= 8198127 |doi=  }}
* {{cite journal | vauthors = Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L | title = The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation | journal = Am. J. Hum. Genet. | volume = 67 | issue = 4 | pages = 832–40 | year = 2000 | pmid = 10947946 | pmc = 1287888 | doi = 10.1086/303077 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Verheijen FW, Verbeek E, Aula N, ''et al.'' |title=A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. |journal=Nat. Genet. |volume=23 |issue= 4 |pages= 462-5 |year= 1999 |pmid= 10581036 |doi= 10.1038/70585 }}
* {{cite journal | vauthors = Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG | title = Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis | journal = Clin. Cancer Res. | volume = 7 | issue = 12 | pages = 4182–94 | year = 2002 | pmid = 11751519 | doi =  | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Aula N, Salomäki P, Timonen R, ''et al.'' |title=The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. |journal=Am. J. Hum. Genet. |volume=67 |issue= 4 |pages= 832-40 |year= 2000 |pmid= 10947946 |doi=  }}
* {{cite journal | vauthors = Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM | title = An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease | journal = Clin. Genet. | volume = 61 | issue = 6 | pages = 443–7 | year = 2003 | pmid = 12121352 | doi = 10.1034/j.1399-0004.2002.610608.x | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Fu C, Bardhan S, Cetateanu ND, ''et al.'' |title=Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis. |journal=Clin. Cancer Res. |volume=7 |issue= 12 |pages= 4182-94 |year= 2002 |pmid= 11751519 |doi=  }}
* {{cite journal | vauthors = Aula N, Jalanko A, Aula P, Peltonen L | title = Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin | journal = Mol. Genet. Metab. | volume = 77 | issue = 1–2 | pages = 99–107 | year = 2003 | pmid = 12359136 | doi = 10.1016/S1096-7192(02)00124-5 }}
*{{cite journal | author=Biancheri R, Verbeek E, Rossi A, ''et al.'' |title=An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. |journal=Clin. Genet. |volume=61 |issue= 6 |pages= 443-7 |year= 2003 |pmid= 12121352 |doi=  }}
* {{cite journal | vauthors = Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA | title = Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs | journal = Am. J. Med. Genet. A | volume = 120 | issue = 1 | pages = 23–7 | year = 2004 | pmid = 12794687 | doi = 10.1002/ajmg.a.10246 | author-separator = | displayauthors = 3 }}
*{{cite journal | author=Aula N, Jalanko A, Aula P, Peltonen L |title=Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin. |journal=Mol. Genet. Metab. |volume=77 |issue= 1-2 |pages= 99-107 |year= 2003 |pmid= 12359136 |doi= }}
* {{cite journal | vauthors = Aula N, Kopra O, Jalanko A, Peltonen L | title = Sialin expression in the CNS implicates extralysosomal function in neurons. | journal = Neurobiol. Dis. | volume = 15 | issue = 2 | pages = 251–61 | year = 2004 | pmid = 15006695 | doi = 10.1016/j.nbd.2003.11.017 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS | title = A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred | journal = Mol. Genet. Metab. | volume = 82 | issue = 2 | pages = 167–72 | year = 2005 | pmid = 15172005 | doi = 10.1016/j.ymgme.2004.03.005 | author-separator =  | displayauthors = 3 }}
*{{cite journal | author=Martin RA, Slaugh R, Natowicz M, ''et al.'' |title=Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs. |journal=Am. J. Med. Genet. A |volume=120 |issue= 1 |pages= 23-7 |year= 2004 |pmid= 12794687 |doi= 10.1002/ajmg.a.10246 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Aula N, Kopra O, Jalanko A, Peltonen L |title=Sialin expression in the CNS implicates extralysosomal function in neurons. |journal=Neurobiol. Dis. |volume=15 |issue= 2 |pages= 251-61 |year= 2004 |pmid= 15006695 |doi= 10.1016/j.nbd.2003.11.017 }}
*{{cite journal | author=Landau D, Cohen D, Shalev H, ''et al.'' |title=A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred. |journal=Mol. Genet. Metab. |volume=82 |issue= 2 |pages= 167-72 |year= 2005 |pmid= 15172005 |doi= 10.1016/j.ymgme.2004.03.005 }}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
 
 
{{membrane-protein-stub}}

Revision as of 06:27, 11 September 2017

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Identifiers
Aliases
External IDsGeneCards: [2]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

Solute carrier family 17 (anion/sugar transporter), member 5, also known as SLC17A5 or sialin, is a protein which in humans is encoded by the SLC17A5 gene.[1][2][3]

Clinical significance

A deficiency of this protein causes Salla disease.[3][4]

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[5][6][7]

See also

References

  1. ↑ "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".
  2. ↑ 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.
  3. ↑ 3.0 3.1 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.
  4. ↑ 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 1-4160-2973-7.
  5. ↑ https://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
  6. ↑ [1]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
  7. ↑ 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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