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

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: mouse all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1.
Title: STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1.
Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor.
Title: Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor.
y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Title: y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
Growth factor-activated PI3K/Akt signalling pathway regulates leucine transport through LAT3 in prostate cancer cell lines
Title: EGF-activated PI3K/Akt signalling coordinates leucine uptake by regulating LAT3 expression in prostate cancer.
Results suggest that leukemia cell proliferation can be significantly suppressed by blocking amino acid transporter LAT3.
Title: Suppression of amino acid transporter LAT3 expression on proliferation of K562 cells.
Inhibition of LAT transporters may provide a novel therapeutic target in metastatic castration-resistant prostate cancer, via suppression of mammalian target of rapamycin complex 1 activity and M-phase cell cycle genes.
Title: Targeting amino acid transport in metastatic castration-resistant prostate cancer: effects on cell cycle, cell growth, and tumor development.
L-theanine is transported mostly via the system L transport pathway and its isoforms
Title: The involvement of L-type amino acid transporters in theanine transport.
Data show that signaling via the androgen receptor and ATF4 pathways regulates expression of the amino acid transporters LAT1 and LAT3, thereby coordinating their increased expression in prostate cancer cells.
Title: Androgen receptor and nutrient signaling pathways coordinate the demand for increased amino acid transport during prostate cancer progression.
LAT3 may play a crucial role in the development and maintenance of podocyte structure and function by regulating protein synthesis and the actin cytoskeleton.
Title: Amino acid transporter LAT3 is required for podocyte development and function.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60827 (e-PCR)
- UniSTS:43813

RH70445 (e-PCR)
- UniSTS:9268

RH64998 (e-PCR)
- UniSTS:87612

D16S2540E (e-PCR)
- UniSTS:151631

SHGC-33727 (e-PCR)
- UniSTS:54478

SLC7A6_3922 (e-PCR)
- UniSTS:462550

G20443 (e-PCR)
- UniSTS:63227

A005R27 (e-PCR)
- UniSTS:63228

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-arginine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-lysine:L-arginine antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables arginine binding	IDA Inferred from Direct Assay more info	PubMed
enables basic amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

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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)

NM_001076785.3 → NP_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:17 → 501

2A0308; L-type amino acid transporter
NM_003983.6 → NP_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:17 → 501

2A0308; L-type amino acid transporter