SLC7A5 solute carrier family 7 member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A5provided by HGNC
Official Full Name: solute carrier family 7 member 5provided by HGNC
Primary source: HGNC:HGNC:11063
See related: Ensembl:ENSG00000103257 MIM:600182; AllianceGenome:HGNC:11063
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: E16; CD98; LAT1; 4F2LC; MPE16; D16S469E
Summary: Enables L-leucine transmembrane transporter activity; L-tryptophan transmembrane transporter activity; and thyroid hormone transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Is integral component of membrane. Part of amino acid transport complex; apical plasma membrane; and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 35.6), bone marrow (RPKM 34.4) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (87830023..87869507, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (93902734..93942286, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (87863629..87903113, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Overexpression of the LAT1 in primary human trophoblast cells increases the uptake of essential amino acids and activates mTOR signaling.
Title: Overexpression of the LAT1 in primary human trophoblast cells increases the uptake of essential amino acids and activates mTOR signaling.
MicroRNA-626 inhibits mTOR pathways activity of retinal pigment epithelial cells by targeting SLC7A5 in human ARPE-19 Cells.
Title: MicroRNA-626 inhibits mTOR pathways activity of retinal pigment epithelial cells by targeting SLC7A5 in human ARPE-19 Cells.
Targeting glutamine metabolic reprogramming of SLC7A5 enhances the efficacy of anti-PD-1 in triple-negative breast cancer.
Title: Targeting glutamine metabolic reprogramming of SLC7A5 enhances the efficacy of anti-PD-1 in triple-negative breast cancer.
CD98 expression can be a predictive factor of resistance to radiotherapy in head and neck squamous cell carcinoma.
Title: CD98 expression can be a predictive factor of resistance to radiotherapy in head and neck squamous cell carcinoma.
Impact of L-type amino acid transporter 1 on intrahepatic cholangiocarcinoma.
Title: Impact of L-type amino acid transporter 1 on intrahepatic cholangiocarcinoma.
Association of High LAT1 Expression with Poor Prognosis and Recurrence in Colorectal Cancer Patients Treated with Oxaliplatin-Based Adjuvant Chemotherapy.
Title: Association of High LAT1 Expression with Poor Prognosis and Recurrence in Colorectal Cancer Patients Treated with Oxaliplatin-Based Adjuvant Chemotherapy.
CD98 defines a metabolically flexible, proinflammatory subset of low-density neutrophils in systemic lupus erythematosus.
Title: CD98 defines a metabolically flexible, proinflammatory subset of low-density neutrophils in systemic lupus erythematosus.
Correlation between the expression of LAT1 in cancer cells and the potential efficacy of boron neutron capture therapy.
Title: Correlation between the expression of LAT1 in cancer cells and the potential efficacy of boron neutron capture therapy.
Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in ERalpha-positive breast cancer.
Title: Co-expression effect of LLGL2 and SLC7A5 to predict prognosis in ERα-positive breast cancer.
The role of L-type amino acid transporter 1 (Slc7a5) during in vitro myogenesis.
Title: The role of L-type amino acid transporter 1 (Slc7a5) during in vitro myogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (170)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC7A5	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	The functional interaction between CD98 and CD147 is involved in the regulation of HIV-1 gp160-mediated cell fusion	PubMed
	env	Antibodies raised against the human fusion regulatory protein 1 (FRP-1; CD98) molecule suppress cell fusion mediated by HIV-1 gp160	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69181 (e-PCR)
- UniSTS:1341

D16S413 (e-PCR)
- UniSTS:90218

RH47455 (e-PCR)
- UniSTS:2977

SHGC-149947 (e-PCR)
- UniSTS:177323

SHGC-154007 (e-PCR)
- UniSTS:182982

D16S469E (e-PCR)
- UniSTS:148427

SHGC-146188 (e-PCR)
- UniSTS:175067

2084 (e-PCR)
- UniSTS:62431

G62517 (e-PCR)
- UniSTS:139497

SLC7A5_851 (e-PCR)
- UniSTS:277751

SLC7A5_V156 (e-PCR)
- UniSTS:277751

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-leucine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-leucine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-tryptophan transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables amino acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables aromatic amino acid transmembrane transporter activity	IGI Inferred from Genetic Interaction more info	PubMed
enables neutral L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables neutral L-amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables neutral L-amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables peptide antigen binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thyroid hormone transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in L-histidine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-leucine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-leucine import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-leucine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-tryptophan transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in alanine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in amino acid import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in amino acid transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to L-arginine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucose starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in isoleucine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in liver regeneration	IEA Inferred from Electronic Annotation more info
involved_in methionine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of autophagy	IEA Inferred from Electronic Annotation more info
acts_upstream_of negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neutral amino acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in neutral amino acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in phenylalanine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in phenylalanine transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of L-leucine import across plasma membrane	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of cytokine production involved in immune response	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of glial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of positive regulation of interleukin-17 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of interleukin-4 production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of type II interferon production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proline transport	IDA Inferred from Direct Assay more info	PubMed
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info
involved_in thyroid hormone transport	IDA Inferred from Direct Assay more info	PubMed
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in tryptophan transport	IDA Inferred from Direct Assay more info	PubMed
involved_in tyrosine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in valine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of amino acid transport complex	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in basolateral plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in external side of apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in microvillus membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: large neutral amino acids transporter small subunit 1

Names: 4F2 light chain; CD98 light chain; L-type amino acid transporter 1; integral membrane protein E16; sodium-independent neutral amino acid transporter LAT1; solute carrier family 7 (amino acid transporter light chain, L system), member 5; solute carrier family 7 (cationic amino acid transporter, y+ system), member 5

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.