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SLC17A5 solute carrier family 17 member 5 [ Homo sapiens (human) ]

Gene ID: 26503, updated on 12-May-2016
Official Symbol
SLC17A5provided by HGNC
Official Full Name
solute carrier family 17 member 5provided by HGNC
Primary source
HGNC: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]
Orthologs
Location:
6q13
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC105377857 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 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 
sialic acid:proton symporter activity TAS
Traceable Author Statement
more info
 
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 
carboxylic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
 
proton transport IEA
Inferred from Electronic Annotation
more info
 
sialic acid transport IDA
Inferred from Direct Assay
more info
PubMed 
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
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 transporter), member 5
vesicular H(+)/Aspartate-glutamate cotransporter

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 RefSeqGene

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

mRNA and Protein(s)

  1. NM_012434.4NP_036566.1  sialin

    See identical proteins and their annotated locations for 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
    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
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011535750.1XP_011534052.1  

    Conserved Domains (1) summary
    cd06174
    Location:44386
    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 ...
  2. XM_005248711.1XP_005248768.1  

    Conserved Domains (2) summary
    cd06174
    Location:33412
    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
    2A0114; D-galactonate transporter
  3. XM_005248710.2XP_005248767.1  

    Conserved Domains (2) summary
    cd06174
    Location:82461
    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
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter
  4. XM_011535751.1XP_011534053.1  

    Conserved Domains (1) summary
    cd06174
    Location:44248
    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 ...

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

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