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Slc17a5 Gene Detail
Summary
  • Symbol
    Slc17a5
  • Name
    solute carrier family 17 (anion/sugar transporter), member 5
  • Synonyms
    4631416G20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924105
    NCBI Gene: 235504
  • Gene Overview
    MyGene.info: SLC17A5
Location & Maps
more
  • Sequence Map
    Chr9:78536488-78588041 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51554 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 43.65 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SLC17A5, solute carrier family 17 member 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC17A5, solute carrier family 17 member 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AST, ISSD, NSD, SD, SIALIN, SIASD, SLD
  • Links
    NCBI Gene ID: 26503
    neXtProt AC: NX_Q9NRA2

  • Chr Location
    6q13; chr6:73593379-73654014 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Slc17a5 mouse models; 2 with human SLC17A5 associations

Human Disease Mouse Models
       Infantile Sialic Acid Storage Disease; ISSD   OMIM: 269920 View 1 model
Salla Disease; SD   OMIM: 604369 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 1 allele in 2 genetic backgrounds
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Slc17a5
  • Incidental Mutations
Homozygous mutant mice exhibit numerous neurological abnormalities, including impaired exploratory and locomotor activity, hearing deficits, and an increased depressive-like response.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000030755 VEGA Gene Model | MGI Sequence Detail 51554 C57BL/6J ±  kb
transcript OTTMUST00000076135 VEGA | MGI Sequence Detail 3236 Not Applicable  
polypeptide OTTMUSP00000040029 VEGA | MGI Sequence Detail 495 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    403 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 41
    cDNA 40
    Primer pair 1

    Microarray probesets 5
References
more
  • Summaries
    All 38
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 7
    Phenotypes 16
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:200994 Lodder-Gadaczek J, et al., Vesicular uptake of N-acetylaspartylglutamate is catalysed by sialin (SLC17A5). Biochem J. 2013 Aug 15;454(1):31-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory