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SLC6A17 solute carrier family 6 member 17 [ Homo sapiens (human) ]

Gene ID: 388662, updated on 1-Jun-2020

Summary

Official Symbol
SLC6A17provided by HGNC
Official Full Name
solute carrier family 6 member 17provided by HGNC
Primary source
HGNC:HGNC:31399
See related
Ensembl:ENSG00000197106 MIM:610299
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
NTT4; MRT48
Summary
The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
Expression
Biased expression in brain (RPKM 23.3), adrenal (RPKM 2.5) and 1 other tissue See more
Orthologs

Genomic context

See SLC6A17 in Genome Data Viewer
Location:
1p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (110150494..110202202)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110693132..110744824)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1397 Neighboring gene ubiquitin like 4B Neighboring gene SLC6A17 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2586 Neighboring gene potassium voltage-gated channel subfamily C member 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Mental retardation, autosomal recessive 48
MedGen: C4225395 OMIM: 616269 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
neurotransmitter:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
alanine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alanine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
glycine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
leucine transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
leucine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
neutral amino acid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
proline transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proline transport ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of synaptic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sodium-dependent neutral amino acid transporter SLC6A17
Names
orphan sodium- and chloride-dependent neurotransmitter transporter NTT4

NCBI Reference Sequences (RefSeq)

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_051945.1 RefSeqGene

    Range
    4981..56689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001010898.4NP_001010898.1  sodium-dependent neutral amino acid transporter SLC6A17

    See identical proteins and their annotated locations for NP_001010898.1

    Status: REVIEWED

    Source sequence(s)
    AK289982, AL137437, AL137790, AL355990, HY005833
    Consensus CDS
    CCDS30799.1
    UniProtKB/Swiss-Prot
    Q9H1V8
    Related
    ENSP00000330199.3, ENST00000331565.5
    Conserved Domains (1) summary
    cd11521
    Location:60648
    SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    110150494..110202202
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710643.2XP_006710706.1  sodium-dependent neutral amino acid transporter SLC6A17 isoform X1

    See identical proteins and their annotated locations for XP_006710706.1

    UniProtKB/Swiss-Prot
    Q9H1V8
    Conserved Domains (1) summary
    cd11521
    Location:60648
    SLC6sbd_NTT4; Na(+)-dependent neurotransmitter transporter 4; solute-binding domain
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