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Entry version 157 (18 Sep 2019)
Sequence version 2 (07 Jun 2004)
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Protein

Sialin

Gene

SLC17A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO3-/H+ cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAmino-acid transport, Symport, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-4085001 Sialic acid metabolism
R-HSA-428643 Organic anion transporters
R-HSA-5619035 Defective SLC17A5 causes Salla disease (SD) and ISSD

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.1.14.10 the major facilitator superfamily (mfs)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Sialin
Alternative name(s):
H(+)/nitrate cotransporter
H(+)/sialic acid cotransporter
Short name:
AST
Membrane glycoprotein HP59
Solute carrier family 17 member 5
Vesicular H(+)/Aspartate-glutamate cotransporter
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC17A5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10933 SLC17A5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
604322 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NRA2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 41CytoplasmicSequence analysisAdd BLAST41
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei42 – 62HelicalSequence analysisAdd BLAST21
Topological domaini63 – 109LumenalSequence analysisAdd BLAST47
Transmembranei110 – 130HelicalSequence analysisAdd BLAST21
Topological domaini131 – 136CytoplasmicSequence analysis6
Transmembranei137 – 157HelicalSequence analysisAdd BLAST21
Topological domaini158LumenalSequence analysis1
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 200CytoplasmicSequence analysisAdd BLAST21
Transmembranei201 – 221HelicalSequence analysisAdd BLAST21
Topological domaini222 – 227LumenalSequence analysis6
Transmembranei228 – 248HelicalSequence analysisAdd BLAST21
Topological domaini249 – 279CytoplasmicSequence analysisAdd BLAST31
Transmembranei280 – 300HelicalSequence analysisAdd BLAST21
Topological domaini301 – 328LumenalSequence analysisAdd BLAST28
Transmembranei329 – 349HelicalSequence analysisAdd BLAST21
Topological domaini350 – 365CytoplasmicSequence analysisAdd BLAST16
Transmembranei366 – 386HelicalSequence analysisAdd BLAST21
Topological domaini387 – 391LumenalSequence analysis5
Transmembranei392 – 412HelicalSequence analysisAdd BLAST21
Topological domaini413 – 423CytoplasmicSequence analysisAdd BLAST11
Transmembranei424 – 444HelicalSequence analysisAdd BLAST21
Topological domaini445 – 457LumenalSequence analysisAdd BLAST13
Transmembranei458 – 478HelicalSequence analysisAdd BLAST21
Topological domaini479 – 495CytoplasmicSequence analysisAdd BLAST17

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Lysosome, Membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Salla disease (SD)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01868439R → C in SD; completely devoid of aspartate and glutamate transport activity, but retains appreciable H(+)/sialic acid cotransport activity, frequent mutation in Finland. 4 PublicationsCorresponds to variant dbSNP:rs80338794EnsemblClinVar.1
Natural variantiVAR_018685136K → E in SD. 1 PublicationCorresponds to variant dbSNP:rs80338795EnsemblClinVar.1
Infantile sialic acid storage disorder (ISSD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018686183H → R in ISSD. 2 PublicationsCorresponds to variant dbSNP:rs119491109EnsemblClinVar.1
Natural variantiVAR_018687268 – 272Missing in ISSD. 2 Publications5
Natural variantiVAR_018688334P → R in ISSD. 2 PublicationsCorresponds to variant dbSNP:rs119491110EnsemblClinVar.1
Natural variantiVAR_018689371G → V in ISSD. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi22 – 23LL → GG: Targeted to plasma membrane; sialic acid uptake strongly activated at acidic pH. 1 Publication2
Mutagenesisi179F → C: 15 fold increase in affinity for glucuronic acid. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
26503

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SLC17A5

MalaCards human disease database

More...
MalaCardsi
SLC17A5
MIMi269920 phenotype
604369 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000119899

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
309324 Free sialic acid storage disease, infantile form
309331 Intermediate severe Salla disease
309334 Salla disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35824

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC17A5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
48428688

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002209471 – 495SialinAdd BLAST495

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei3PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi71N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi77N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi95N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9NRA2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NRA2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NRA2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NRA2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9NRA2

PeptideAtlas

More...
PeptideAtlasi
Q9NRA2

PRoteomics IDEntifications database

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PRIDEi
Q9NRA2

ProteomicsDB human proteome resource

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ProteomicsDBi
82321 [Q9NRA2-1]
82322 [Q9NRA2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NRA2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9NRA2

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NRA2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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 detected in endothelial cells from the corresponding normal tissues.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000119899 Expressed in 211 organ(s), highest expression level in saliva-secreting gland

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NRA2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044479

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117710, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q9NRA2, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000348019

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi22 – 23Dileucine internalization motif2

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2532 Eukaryota
ENOG410XPWC LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160370

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230811

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NRA2

KEGG Orthology (KO)

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KOi
K12301

Identification of Orthologs from Complete Genome Data

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OMAi
RVVTTWF

Database of Orthologous Groups

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OrthoDBi
619250at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NRA2

TreeFam database of animal gene trees

More...
TreeFami
TF313535

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07690 MFS_1, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103473 SSF103473, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50850 MFS, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NRA2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRSPVRDLAR NDGEESTDRT PLLPGAPRAE AAPVCCSARY NLAILAFFGF
60 70 80 90 100
FIVYALRVNL SVALVDMVDS NTTLEDNRTS KACPEHSAPI KVHHNQTGKK
110 120 130 140 150
YQWDAETQGW ILGSFFYGYI ITQIPGGYVA SKIGGKMLLG FGILGTAVLT
160 170 180 190 200
LFTPIAADLG VGPLIVLRAL EGLGEGVTFP AMHAMWSSWA PPLERSKLLS
210 220 230 240 250
ISYAGAQLGT VISLPLSGII CYYMNWTYVF YFFGTIGIFW FLLWIWLVSD
260 270 280 290 300
TPQKHKRISH YEKEYILSSL RNQLSSQKSV PWVPILKSLP LWAIVVAHFS
310 320 330 340 350
YNWTFYTLLT LLPTYMKEIL RFNVQENGFL SSLPYLGSWL CMILSGQAAD
360 370 380 390 400
NLRAKWNFST LCVRRIFSLI GMIGPAVFLV AAGFIGCDYS LAVAFLTIST
410 420 430 440 450
TLGGFCSSGF SINHLDIAPS YAGILLGITN TFATIPGMVG PVIAKSLTPD
460 470 480 490
NTVGEWQTVF YIAAAINVFG AIFFTLFAKG EVQNWALNDH HGHRH
Length:495
Mass (Da):54,640
Last modified:June 7, 2004 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5C6C154B3E93A19E
GO
Isoform 2 (identifier: Q9NRA2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     274-276: LSS → AGV
     278-495: Missing.

Show »
Length:277
Mass (Da):30,667
Checksum:i1BF03EA560AB80DB
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAF97769 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01868439R → C in SD; completely devoid of aspartate and glutamate transport activity, but retains appreciable H(+)/sialic acid cotransport activity, frequent mutation in Finland. 4 PublicationsCorresponds to variant dbSNP:rs80338794EnsemblClinVar.1
Natural variantiVAR_018685136K → E in SD. 1 PublicationCorresponds to variant dbSNP:rs80338795EnsemblClinVar.1
Natural variantiVAR_018686183H → R in ISSD. 2 PublicationsCorresponds to variant dbSNP:rs119491109EnsemblClinVar.1
Natural variantiVAR_018687268 – 272Missing in ISSD. 2 Publications5
Natural variantiVAR_034746296V → I. Corresponds to variant dbSNP:rs16883930EnsemblClinVar.1
Natural variantiVAR_018688334P → R in ISSD. 2 PublicationsCorresponds to variant dbSNP:rs119491110EnsemblClinVar.1
Natural variantiVAR_018689371G → V in ISSD. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_010482274 – 276LSS → AGV in isoform 2. 2 Publications3
Alternative sequenceiVSP_010483278 – 495Missing in isoform 2. 2 PublicationsAdd BLAST218

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AF244577 mRNA Translation: AAF97769.1 Different initiation.
AJ387747 mRNA Translation: CAB62540.1
AK075320 mRNA Translation: BAC11546.1
AL121972 Genomic DNA No translation available.
AL590428 Genomic DNA No translation available.
BC020961 mRNA Translation: AAH20961.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4981.1 [Q9NRA2-1]

NCBI Reference Sequences

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RefSeqi
NP_036566.1, NM_012434.4 [Q9NRA2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355773; ENSP00000348019; ENSG00000119899 [Q9NRA2-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26503

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:26503

UCSC genome browser

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UCSCi
uc003phn.5 human [Q9NRA2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF244577 mRNA Translation: AAF97769.1 Different initiation.
AJ387747 mRNA Translation: CAB62540.1
AK075320 mRNA Translation: BAC11546.1
AL121972 Genomic DNA No translation available.
AL590428 Genomic DNA No translation available.
BC020961 mRNA Translation: AAH20961.1
CCDSiCCDS4981.1 [Q9NRA2-1]
RefSeqiNP_036566.1, NM_012434.4 [Q9NRA2-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117710, 5 interactors
IntActiQ9NRA2, 2 interactors
STRINGi9606.ENSP00000348019

Protein family/group databases

TCDBi2.A.1.14.10 the major facilitator superfamily (mfs)

PTM databases

iPTMnetiQ9NRA2
PhosphoSitePlusiQ9NRA2
SwissPalmiQ9NRA2

Polymorphism and mutation databases

BioMutaiSLC17A5
DMDMi48428688

Proteomic databases

EPDiQ9NRA2
jPOSTiQ9NRA2
MassIVEiQ9NRA2
MaxQBiQ9NRA2
PaxDbiQ9NRA2
PeptideAtlasiQ9NRA2
PRIDEiQ9NRA2
ProteomicsDBi82321 [Q9NRA2-1]
82322 [Q9NRA2-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
26503
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355773; ENSP00000348019; ENSG00000119899 [Q9NRA2-1]
GeneIDi26503
KEGGihsa:26503
UCSCiuc003phn.5 human [Q9NRA2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
26503
DisGeNETi26503

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC17A5
GeneReviewsiSLC17A5
HGNCiHGNC:10933 SLC17A5
HPAiHPA044479
MalaCardsiSLC17A5
MIMi269920 phenotype
604322 gene
604369 phenotype
neXtProtiNX_Q9NRA2
OpenTargetsiENSG00000119899
Orphaneti309324 Free sialic acid storage disease, infantile form
309331 Intermediate severe Salla disease
309334 Salla disease
PharmGKBiPA35824

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2532 Eukaryota
ENOG410XPWC LUCA
GeneTreeiENSGT00940000160370
HOGENOMiHOG000230811
InParanoidiQ9NRA2
KOiK12301
OMAiRVVTTWF
OrthoDBi619250at2759
PhylomeDBiQ9NRA2
TreeFamiTF313535

Enzyme and pathway databases

ReactomeiR-HSA-4085001 Sialic acid metabolism
R-HSA-428643 Organic anion transporters
R-HSA-5619035 Defective SLC17A5 causes Salla disease (SD) and ISSD

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SLC17A5 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HP59
SLC17A5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
26503

Pharos

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Pharosi
Q9NRA2

Protein Ontology

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PROi
PR:Q9NRA2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000119899 Expressed in 211 organ(s), highest expression level in saliva-secreting gland
GenevisibleiQ9NRA2 HS

Family and domain databases

InterProiView protein in InterPro
IPR011701 MFS
IPR020846 MFS_dom
IPR036259 MFS_trans_sf
PfamiView protein in Pfam
PF07690 MFS_1, 1 hit
SUPFAMiSSF103473 SSF103473, 1 hit
PROSITEiView protein in PROSITE
PS50850 MFS, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS17A5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NRA2
Secondary accession number(s): Q5SZ76, Q8NBR5, Q9UGH0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: September 18, 2019
This is version 157 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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