About   Help   FAQ
Slc6a17 Gene Detail
Summary
  • Symbol
    Slc6a17
  • Name
    solute carrier family 6 (neurotransmitter transporter), member 17
  • Synonyms
    D130012J15Rik, NTT4
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442535
    NCBI Gene: 229706
Location & Maps
more
  • Sequence Map
    Chr3:107467543-107518018 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      50476 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 46.83 cM, cytoband F2.3
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC6A17, solute carrier family 6 member 17
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC6A17, solute carrier family 6 member 17
    Orthology source: HomoloGene, HGNC
  • Synonyms
    MRT48, NTT4
  • Links
    NCBI Gene ID: 388662
    neXtProt AC: NX_Q9H1V8

  • Chr Location
    1p13.3; chr1:110150510-110202202 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SLC6A17 associations

Human Disease Mouse Models
       Mental Retardation, Autosomal Recessive 48; MRT48   OMIM: 616269
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotype references
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Slc6a17
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • 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
less
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036634 VEGA Gene Model | MGI Sequence Detail 50476 C57BL/6J ±  kb
transcript OTTMUST00000093896 VEGA | MGI Sequence Detail 6322 Not Applicable  
polypeptide OTTMUSP00000052183 VEGA | MGI Sequence Detail 727 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    453 from dbSNP Build 142
Protein
Information
less
  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000015183 sodium-dependent neutral amino acid transporter SLC6A17
  • InterPro Domains
    IPR000175 Sodium:neurotransmitter symporter
    IPR002438 Sodium:neurotransmitter symporter, orphan
Molecular
Reagents
less
  • All nucleic 34
    Genomic 1
    cDNA 32
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:2139986
References
more
  • Summaries
    All 27
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 5
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:220477 Iqbal Z, et al., Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Am J Hum Genet. 2015 Mar 5;96(3):386-96

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/29/2016
MGI 6.06
The Jackson Laboratory