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SLC7A6 solute carrier family 7 member 6 [ Homo sapiens (human) ]

Gene ID: 9057, updated on 11-Apr-2024

Summary

Official Symbol
SLC7A6provided by HGNC
Official Full Name
solute carrier family 7 member 6provided by HGNC
Primary source
HGNC:HGNC:11064
See related
Ensembl:ENSG00000103064 MIM:605641; AllianceGenome:HGNC:11064
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
LAT3; LAT-2; y+LAT-2
Summary
Enables basic amino acid transmembrane transporter activity. Involved in basic amino acid transmembrane transport and ornithine transport. Located in intracellular membrane-bounded organelle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in fat (RPKM 11.5), lymph node (RPKM 10.0) and 24 other tissues See more
Orthologs
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Genomic context

See SLC7A6 in Genome Data Viewer
Location:
16q22.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (68264526..68301819)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (74060279..74097601)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (68298429..68335722)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:68279742-68280242 Neighboring gene phospholipase A2 group XV Neighboring gene uncharacterized LOC124903704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7645 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:68298967-68300166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11009 Neighboring gene Sharpr-MPRA regulatory region 10574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11010 Neighboring gene Sharpr-MPRA regulatory region 6227 Neighboring gene RNA, U6 small nuclear 1262, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11012 Neighboring gene Sharpr-MPRA regulatory region 7703 Neighboring gene solute carrier family 7 member 6 opposite strand Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:68343854-68344818 Neighboring gene small nucleolar RNA U13 Neighboring gene protein arginine methyltransferase 7 Neighboring gene RNA, U4 small nuclear 30, pseudogene

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

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA0245, DKFZp686K15246

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in L-arginine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-arginine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in L-leucine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in L-lysine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in amino acid transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
involved_in glycine betaine transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in neutral amino acid transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ornithine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Y+L amino acid transporter 2
Names
amino acid permease
cationic amino acid transporter, y+ system
solute carrier family 7 (amino acid transporter light chain, y+L system), member 6
solute carrier family 7 (cationic amino acid transporter, y+ system), member 6
y(+)L-type amino acid transporter 2
y+LAT2

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_001076785.3NP_001070253.1  Y+L amino acid transporter 2

    See identical proteins and their annotated locations for NP_001070253.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC020978, D87432, DB107640
    Consensus CDS
    CCDS32470.1
    UniProtKB/Swiss-Prot
    Q68DS4, Q7L1N3, Q92536
    Related
    ENSP00000455064.1, ENST00000566454.5
    Conserved Domains (1) summary
    TIGR00911
    Location:17501
    2A0308; L-type amino acid transporter
  2. NM_003983.6NP_003974.3  Y+L amino acid transporter 2

    See identical proteins and their annotated locations for NP_003974.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC020978, BC028216, D87432, DB107640
    Consensus CDS
    CCDS32470.1
    UniProtKB/Swiss-Prot
    Q68DS4, Q7L1N3, Q92536
    Related
    ENSP00000219343.6, ENST00000219343.11
    Conserved Domains (1) summary
    TIGR00911
    Location:17501
    2A0308; L-type amino acid transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    68264526..68301819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    74060279..74097601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)