• Gene id: 26503

Gene Summary

• Gene Symbol: SLC17A5   Gene   UCSC   Ensembl
• Aliases: AST, ISSD, NSD, SD, SIALIN, SIASD, SLD
• Gene name: solute carrier family 17 member 5
• Alternate names: sialin, H(+)/nitrate cotransporter, H(+)/sialic acid cotransporter, membrane glycoprotein HP59, sialic acid storage disease, sodium/sialic acid cotransporter, solute carrier family 17 (acidic sugar transporter), member 5, solute carrier family 17 (anion/sugar tr,
• Gene location: 6q13 (73653991: 73593378)     Exons: 11     NC_000006.12
• Gene summary(Entrez): This 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 disor
• OMIM: 604322

Protein Summary

• Protein general information: Q9NRA2  
  • Name: Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular H(+)/Aspartate glutamate cotransporter)
  • Length: 495  
  • Mass: 54640
  • Tissue specificity: Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not d
• Sequence:

  MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLE
  DNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLT
  LFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMN
  WTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
  YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGP
  AVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPD
  NTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH

• Structural information:
  • Interpro: IPR011701  IPR020846  IPR036259  
  • Prosite: PS50850
  • STRING: ENSP00000348019
• Other Databases: GeneCards:  SLC17A5  Malacards:  SLC17A5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015739	sialic acid transport	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005764	lysosome	IBA	cellular component
GO:0006820	anion transport	IBA	biological process
GO:0015136	sialic acid transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0006865	amino acid transport	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0005351	carbohydrate:proton symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0006820	anion transport	TAS	biological process
GO:0015136	sialic acid transmembrane transporter activity	IDA	molecular function
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0015739	sialic acid transport	IDA	biological process
GO:0006811	ion transport	TAS	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0015538	sialic acid:proton symporter activity	TAS	molecular function
GO:0015136	sialic acid transmembrane transporter activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0009617	response to bacterium	IEA	biological process
GO:0015739	sialic acid transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0034219	carbohydrate transmembrane transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome

Diseases

Associated diseases	References
Sialuria	KEGG:H00147
Sialuria	KEGG:H00147
Sialuria	PMID:10581036
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881