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SLC6A15 solute carrier family 6 member 15 [ Homo sapiens (human) ]

Gene ID: 55117, updated on 1-Jun-2020

Summary

Official Symbol
SLC6A15provided by HGNC
Official Full Name
solute carrier family 6 member 15provided by HGNC
Primary source
HGNC:HGNC:13621
See related
Ensembl:ENSG00000072041 MIM:607971
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
V7-3; NTT73; SBAT1; hv7-3
Summary
This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Expression
Biased expression in brain (RPKM 5.0), placenta (RPKM 1.2) and 3 other tissues See more
Orthologs

Genomic context

See SLC6A15 in Genome Data Viewer
Location:
12q21.31
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (84859491..84912829, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (85253267..85306608, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 12 pseudogene Neighboring gene uncharacterized LOC105369875 Neighboring gene uncharacterized LOC102724680 Neighboring gene Sharpr-MPRA regulatory region 14945 Neighboring gene tetraspanin 19

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

NHGRI GWAS Catalog

Description
A genome-wide association study of behavioral disinhibition.
NHGRI GWA Catalog
The neuronal transporter gene SLC6A15 confers risk to major depression.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10316, MGC87066, DKFZp761I0921

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
neurotransmitter transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
neurotransmitter:sodium symporter activity IEA
Inferred from Electronic Annotation
more info
 
proline:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
amino acid transport TAS
Traceable Author Statement
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
 
neurotransmitter transport NAS
Non-traceable Author Statement
more info
PubMed 
neutral amino acid transport IDA
Inferred from Direct Assay
more info
PubMed 
proline transport ISS
Inferred from Sequence or Structural Similarity
more info
 
sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
sodium-dependent neutral amino acid transporter B(0)AT2
Names
homolog of rat orphan transporter v7-3
orphan sodium- and chloride-dependent neurotransmitter transporter NTT73
orphan transporter v7-3
sodium- and chloride-dependent neurotransmitter transporter NTT73
sodium-coupled branched-chain amino-acid transporter 1
sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7
solute carrier family 6 (neurotransmitter transporter), member 15
solute carrier family 6 (neutral amino acid transporter), member 15
transporter v7-3

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.

mRNA and Protein(s)

  1. NM_001146335.3NP_001139807.1  sodium-dependent neutral amino acid transporter B(0)AT2 isoform 3

    See identical proteins and their annotated locations for NP_001139807.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks the 5' coding exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AF351619, AI368909, AK001178, AK294945
    Consensus CDS
    CCDS53816.1
    UniProtKB/Swiss-Prot
    Q9H2J7
    UniProtKB/TrEMBL
    Q8IXG2, Q9NW50
    Related
    ENSP00000450145.1, ENST00000552192.5
    Conserved Domains (1) summary
    cl00456
    Location:1533
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  2. NM_018057.6NP_060527.2  sodium-dependent neutral amino acid transporter B(0)AT2 isoform 2

    See identical proteins and their annotated locations for NP_060527.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC018922, AK022853, CF529868, DA247242
    Consensus CDS
    CCDS9027.1
    UniProtKB/Swiss-Prot
    Q9H2J7
    Related
    ENSP00000390706.2, ENST00000450363.3
    Conserved Domains (1) summary
    cl00456
    Location:61263
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
  3. NM_182767.6NP_877499.1  sodium-dependent neutral amino acid transporter B(0)AT2 isoform 1

    See identical proteins and their annotated locations for NP_877499.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC018922, AF265577, AI368909, DA247242
    Consensus CDS
    CCDS9026.1
    UniProtKB/Swiss-Prot
    Q9H2J7
    Related
    ENSP00000266682.5, ENST00000266682.10
    Conserved Domains (1) summary
    cd11522
    Location:61640
    SLC6sbd_SBAT1; Sodium-coupled branched-chain amino-acid transporter 1; 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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    84859491..84912829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538525.3XP_011536827.1  sodium-dependent neutral amino acid transporter B(0)AT2 isoform X1

    Conserved Domains (1) summary
    cl00456
    Location:61498
    SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
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