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MGP004856

Record overview

MGPD IDMGP004856
Gene ID26503
SpeciesHomo sapiens (Human)
Gene Namesolute carrier family 17 (acidic sugar transporter), member 5
Gene Symbol SLC17A5
SynonymsSD; AST; NSD; SLD; ISSD; SIASD; SIALIN;
Alternate namessialin; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; membrane glycoprotein HP59; sialic acid storage disease; sodium/sialic acid cotransporter; solute carrier family 17 (anion/sugar transporter), member 5; vesicular H(+)/Aspartate-glutamate cotransporter;
Chromosome6
Map Location6q13
SummaryThis gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for SLC17A5

Proteins

sialin
Refseq ID:NP_036566
Protein GI:6912666
UniProt ID:Q9NRA2
mRNA ID:NM_012434
Length:495
RefSeq Status:
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKK
YQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLS
ISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH
 
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