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SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 [ Homo sapiens (human) ]

Gene ID: 26503, updated on 19-Jul-2014
Official Symbol
SLC17A5provided by HGNC
Official Full Name
solute carrier family 17 (acidic sugar transporter), member 5provided by HGNC
Primary source
HGNC:10933
See related
Ensembl:ENSG00000119899; HPRD:05058; MIM:604322; Vega:OTTHUMG00000015039
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SD; AST; NSD; SLD; ISSD; SIASD; SIALIN
Summary
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 disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
See SLC17A5 in Epigenomics, MapViewer
Location:
6q13
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (73593379..73654014, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74303102..74363737, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mitochondrial tRNA translation optimization 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene uncharacterized LOC101928489 Neighboring gene CD109 molecule Neighboring gene uncharacterized LOC101928516 Neighboring gene family with sequence similarity 136, member A pseudogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Tat tat FITC-labeled Tat 47-59 peptide upregulates gene expression of solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5) in U-937 macrophages PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22227, FLJ23268

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sialic acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
sugar:proton symporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
amino acid transport IEA
Inferred from Electronic Annotation
more info
 
anion transport TAS
Traceable Author Statement
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
proton transport TAS
Traceable Author Statement
more info
PubMed 
sialic acid transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane TAS
Traceable Author Statement
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
sialin
Names
sialin
H(+)/nitrate cotransporter
membrane glycoprotein HP59
sialic acid storage disease
H(+)/sialic acid cotransporter
sodium/sialic acid cotransporter
vesicular H(+)/Aspartate-glutamate cotransporter
solute carrier family 17 (anion/sugar transporter), member 5

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008272.1 

    Range
    5001..65636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012434.4NP_036566.1  sialin

    See proteins identical to NP_036566.1

    Status: REVIEWED

    Source sequence(s)
    AK026921, BC020961, BP288187
    Consensus CDS
    CCDS4981.1
    UniProtKB/Swiss-Prot
    Q9NRA2
    Related
    ENSP00000348019, OTTHUMP00000016747, ENST00000355773, OTTHUMT00000041228
    Conserved Domains (2) summary
    cd06174
    Location:99478
    Blast Score: 374
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:30491
    Blast Score: 939
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    73593379..73654014
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715459.1XP_006715522.1  

    Conserved Domains (2) summary
    cd06174
    Location:99425
    Blast Score: 318
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:30438
    Blast Score: 752
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
  2. XM_005248711.1XP_005248768.1  

    Conserved Domains (2) summary
    cd06174
    Location:33412
    Blast Score: 360
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00893
    Location:38406
    Blast Score: 371
    2A0114; D-galactonate transporter
  3. XM_005248710.1XP_005248767.1  

    Conserved Domains (2) summary
    cd06174
    Location:82461
    Blast Score: 356
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    TIGR00894
    Location:16474
    Blast Score: 926
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    71502886..71563295
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    74469444..74529997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)