SLC17A5
entrez
26503
canonical
uniprot
Q9NRA2
canonical
ensembl
ENSG00000119899
resolver
ensp
ENSP00000348019
resolver
ensp
ENSP00000578596
resolver
ensp
ENSP00000578597
resolver
ensp
ENSP00000603690
resolver
ensp
ENSP00000643653
resolver
ensp
ENSP00000643654
resolver
ensp
ENSP00000783115
resolver
genesymbol
SLC17A5
resolver
hgnc
HGNC:10933
resolver
uniprot
Q5SZ76
resolver
uniprot
Q8NBR5
resolver
uniprot
Q9UGH0
resolver
uniprot_entry
S17A5_HUMAN
resolver
uniprot_sec
Q5SZ76
resolver
uniprot_sec
Q8NBR5
resolver
uniprot_sec
Q9UGH0
resolver
amino_acid_sequence
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH
uniprot
proteins
disease_involvement
DISEASE: Salla disease (SD) [MIM:604369]: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and intellectual disability. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. {ECO:0000269|PubMed:10581036, ECO:0000269|PubMed:10947946, ECO:0000269|PubMed:12794687, ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:21781115, ECO:0000269|PubMed:22778404}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Infantile sialic acid storage disorder (ISSD) [MIM:269920]: Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. {ECO:0000269|PubMed:10581036, ECO:0000269|PubMed:10947946, ECO:0000269|PubMed:15172005, ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:21781115, ECO:0000269|PubMed:22778404}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electroneutral proton-coupled acidic monosaccharide symporter, with a sugar to proton stoichiometry of 1:1. Exports glucuronic acid and free sialic acid derived from sialoglycoconjugate degradation out of lysosomes, driven by outwardly directed lysosomal pH gradient. May regulate lysosome function and metabolism of sialylated conjugates that impact oligodendrocyte lineage differentiation and myelinogenesis in the central nervous system (By similarity) (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254). Electrogenic proton-coupled nitrate symporter that transports nitrate ions across the basolateral membrane of salivary gland acinar cells, with nitrate to proton stoichiometry of 2:1. May contribute to nitrate clearance from serum by salivary glands, where it is further concentrated and secreted in the saliva (PubMed:22778404). Uses membrane potential to drive the uptake of acidic amino acids and peptides into synaptic vesicles. Responsible for synaptic vesicular storage of L-aspartate and L-glutamate in pinealocytes as well as vesicular uptake of N-acetyl-L-aspartyl-L-glutamate neuropeptide, relevant to aspartegic-associated glutamatergic neurotransmission and activation of metabotropic receptors that inhibit subsequent transmitter release (By similarity) (PubMed:21781115, PubMed:22778404, PubMed:23889254). {ECO:0000250|UniProtKB:Q5Q0U0, ECO:0000250|UniProtKB:Q8BN82, ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:21781115, ECO:0000269|PubMed:22778404, ECO:0000269|PubMed:23889254}.; FUNCTION: Receptor for CM101, a polysaccharide produced by group B Streptococcus with antipathoangiogenic properties. {ECO:0000250|UniProtKB:Q9MZD1}.
uniprot
proteins
mass_dalton
54640
uniprot
proteins
mutagenesis
MUTAGEN 22..23; /note="LL->AA: Targeted to plasma membrane."; /evidence="ECO:0000269|PubMed:15510212"; MUTAGEN 22..23; /note="LL->GG: Targeted to plasma membrane; sialic acid uptake strongly activated at acidic pH."; /evidence="ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:22778404, ECO:0000269|PubMed:23889254"; MUTAGEN 198..199; /note="LL->AA: Localizes in vesicular structures mainly concentrated in the perinuclear region."; /evidence="ECO:0000269|PubMed:15510212"; MUTAGEN 266..267; /note="IL->LA: Localizes in vesicular structures mainly concentrated in the perinuclear region."; /evidence="ECO:0000269|PubMed:15510212
uniprot
proteins
protein_family
Major facilitator superfamily
uniprot
proteins
protein_family
Sodium/anion cotransporter family
uniprot
proteins
pubmed
10581036
uniprot
proteins
pubmed
10947946
uniprot
proteins
pubmed
11751519
uniprot
proteins
pubmed
12794687
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15172005
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15510212
uniprot
proteins
pubmed
17897319
uniprot
proteins
pubmed
20424173
uniprot
proteins
pubmed
21781115
uniprot
proteins
pubmed
22778404
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23889254
uniprot
proteins
sequence_length
495
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:22778404}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21781115}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:15510212, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:22778404}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 110..130; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 159..179; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 228..248; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..300; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 329..349; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 366..386; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 392..412; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 424..444; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 458..478; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins