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Slc17a5 solute carrier family 17 (anion/sugar transporter), member 5 [ Mus musculus (house mouse) ]

Gene ID: 235504, updated on 21-Apr-2024

Summary

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Official Symbol
Slc17a5provided by MGI
Official Full Name
solute carrier family 17 (anion/sugar transporter), member 5provided by MGI
Primary source
MGI:MGI:1924105
See related
Ensembl:ENSMUSG00000049624 AllianceGenome:MGI:1924105
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
SD; AST; NSD; SLD; ISSD; VEAT; SIASD; SIALIN; 4732491M05; 4631416G20Rik
Summary
Predicted to enable sialic acid transmembrane transporter activity. Acts upstream of or within response to bacterium. Located in cytoplasmic vesicle and plasma membrane. Is expressed in several structures, including gut; liver; metanephros; nervous system; and sensory organ epithelium. Used to study lysosomal storage disease and sialuria. Human ortholog(s) of this gene implicated in sialuria. Orthologous to human SLC17A5 (solute carrier family 17 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney adult (RPKM 12.0), genital fat pad adult (RPKM 7.5) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
9 E1; 9 43.65 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (78443769..78495346, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (78536487..78588045, complement)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E572 Neighboring gene STARR-seq mESC enhancer starr_24732 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 Neighboring gene STARR-seq mESC enhancer starr_24733 Neighboring gene predicted gene, 53210 Neighboring gene STARR-seq mESC enhancer starr_24735 Neighboring gene STARR-seq mESC enhancer starr_24737 Neighboring gene STARR-positive B cell enhancer ABC_E3847 Neighboring gene STARR-positive B cell enhancer mm9_chr9:78444699-78445000 Neighboring gene STARR-seq mESC enhancer starr_24739 Neighboring gene CD109 antigen Neighboring gene STARR-positive B cell enhancer mm9_chr9:78548450-78548751 Neighboring gene STARR-seq mESC enhancer starr_24741 Neighboring gene STARR-seq mESC enhancer starr_24742 Neighboring gene predicted gene, 46138

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice. Stroobants S, et al. Exp Neurol, 2017 May. PMID 28189729
  2. Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter. Huang C, et al. Biosci Biotechnol Biochem, 2015. PMID 25494612
  3. Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5). Lodder-Gadaczek J, et al. Biochem J, 2013 Aug 15. PMID 23889254
  4. The lysosomal sialic acid transporter sialin is required for normal CNS myelination. Prolo LM, et al. J Neurosci, 2009 Dec 9. PMID 20007460, Free PMC Article
  5. Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated. Yarovaya N, et al. Neurobiol Dis, 2005 Aug. PMID 16023578

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. This study demonstrated that Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
    Title: Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice.
  2. Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter.
    Title: Autophagy regulates the stability of sialin, a lysosomal sialic acid transporter.
  3. The uptake of N-acetylaspartylglutamate into synaptic vesicles depends on sialic acid transporter sialin, SLC17A5.
    Title: Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5).
  4. l-aspartate is exocytotically released from nerve terminals after vesicular accumulation by a transporter other than sialin.
    Title: Vesicular uptake and exocytosis of L-aspartate is independent of sialin.
  5. These findings suggest that a defect in maturation of cells in the oligodendrocyte lineage leads to increased apoptosis and underlies the myelination defect associated with sialin loss.
    Title: The lysosomal sialic acid transporter sialin is required for normal CNS myelination.
  6. sialin possesses dual physiological functions and acts as a vesicular aspartate/glutamate transporter
    Title: Identification of a vesicular aspartate transporter.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (6) 

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables D-glucuronate transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables D-glucuronate transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables sialic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sialic acid transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables symporter activity IEA
Inferred from Electronic Annotation
more info
  
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within amino acid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic anion transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neurotransmitter loading into synaptic vesicle EXP
Inferred from Experiment
more info
 PubMed 
involved_in neurotransmitter loading into synaptic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in neurotransmitter loading into synaptic vesicle IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in neurotransmitter loading into synaptic vesicle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within response to bacterium IEP
Inferred from Expression Pattern
more info
 PubMed 
involved_in sialic acid transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within sialic acid transport ISO
Inferred from Sequence Orthology
more info
  
involved_in sialic acid transport ISO
Inferred from Sequence Orthology
more info
  
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in glutamatergic synapse EXP
Inferred from Experiment
more info
 PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in lysosomal membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
is_active_in synaptic vesicle membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
sialin
Names
H(+)/nitrate cotransporter
sodium/sialic acid cotransporter
vesicular H(+)/Aspartate-glutamate cotransporter
vesicular excitatory amino acid transporter

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001276452.1 → NP_001263381.1  sialin isoform b

    See identical proteins and their annotated locations for NP_001263381.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform b which is shorter than isoform a.
    Source sequence(s)
    AC159883, BC058785, BE630039
    Consensus CDS
    CCDS72283.1
    UniProtKB/Swiss-Prot
    Q8BN82
    Related
    ENSMUSP00000113003.2, ENSMUST00000117645.8
    Conserved Domains (2) summary
    cd06174
    Location:98 → 452
    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:30 → 465
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

  2. NM_172773.3 → NP_766361.1  sialin isoform a

    See identical proteins and their annotated locations for NP_766361.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC159883, AK029102, BE630039
    Consensus CDS
    CCDS23364.1
    UniProtKB/Swiss-Prot
    Q3TE25, Q8BN82
    Related
    ENSMUSP00000056182.6, ENSMUST00000052441.12
    Conserved Domains (2) summary
    cd06174
    Location:99 → 478
    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:30 → 491
    2A0114euk; Na(+)-dependent inorganic phosphate cotransporter

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    78443769..78495346 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154911.1 → XP_036010804.1  sialin isoform X2

    Conserved Domains (1) summary
    cl28910
    Location:42 → 373
    MFS; Major Facilitator Superfamily

  2. XM_011242737.3 → XP_011241039.1  sialin isoform X3

    Conserved Domains (1) summary
    cl28910
    Location:1 → 297
    MFS; Major Facilitator Superfamily

  3. XM_017313345.2 → XP_017168834.1  sialin isoform X3

    Conserved Domains (1) summary
    cl28910
    Location:1 → 297
    MFS; Major Facilitator Superfamily

  4. XM_006511128.5 → XP_006511191.1  sialin isoform X1

    Conserved Domains (1) summary
    cd17381
    Location:19 → 455
    MFS_SLC17A5; Solute carrier family 17 member 5 (also called sialin) of the Major Facilitator Superfamily of transporters

RNA

  1. XR_004935422.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BN82.2 GenPept UniProtKB/Swiss-Prot:Q8BN82

Gene LinkOut

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