SLC1A5 solute carrier family 1 member 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC1A5provided by HGNC
Official Full Name: solute carrier family 1 member 5provided by HGNC
Primary source: HGNC:HGNC:10943
See related: Ensembl:ENSG00000105281 MIM:109190; AllianceGenome:HGNC:10943
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: R16; AAAT; ATBO; M7V1; RDRC; ASCT2; M7VS1
Summary: The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
Expression: Ubiquitous expression in fat (RPKM 39.0), prostate (RPKM 26.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (46774883..46788594, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (49600712..49614415, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (47278140..47291851, complement)

Chromosome 19 - NC_000019.10 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 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?

Structural basis of the obligatory exchange mode of human neutral amino acid transporter ASCT2.
Title: Structural basis of the obligatory exchange mode of human neutral amino acid transporter ASCT2.
USP48 deubiquitination stabilizes SLC1A5 to inhibit retinal pigment epithelium cell inflammation, oxidative stress and ferroptosis in the progression of diabetic retinopathy.
Title: USP48 deubiquitination stabilizes SLC1A5 to inhibit retinal pigment epithelium cell inflammation, oxidative stress and ferroptosis in the progression of diabetic retinopathy.
Radiation-induced exosomes promote oral squamous cell carcinoma progression via enhancing SLC1A5-glutamine metabolism.
Title: Radiation-induced exosomes promote oral squamous cell carcinoma progression via enhancing SLC1A5-glutamine metabolism.
CircCPA4 induces ASCT2 expression to promote tumor property of non-small cell lung cancer cells in a miR-145-5p-dependent manner.
Title: CircCPA4 induces ASCT2 expression to promote tumor property of non-small cell lung cancer cells in a miR-145-5p-dependent manner.
Loss of RACK1 promotes glutamine addiction via activating AKT/mTOR/ASCT2 axis to facilitate tumor growth in gastric cancer.
Title: Loss of RACK1 promotes glutamine addiction via activating AKT/mTOR/ASCT2 axis to facilitate tumor growth in gastric cancer.
The YBX3 RNA-binding protein posttranscriptionally controls SLC1A5 mRNA in proliferating and differentiating skeletal muscle cells.
Title: The YBX3 RNA-binding protein posttranscriptionally controls SLC1A5 mRNA in proliferating and differentiating skeletal muscle cells.
ASCT2-mediated glutamine uptake promotes Th1 differentiation via ROS-EGR1-PAC1 pathway in oral lichen planus.
Title: ASCT2-mediated glutamine uptake promotes Th1 differentiation via ROS-EGR1-PAC1 pathway in oral lichen planus.
Targeting Pulmonary Fibrosis by SLC1A5-Dependent Glutamine Transport Blockade.
Title: Targeting Pulmonary Fibrosis by SLC1A5-Dependent Glutamine Transport Blockade.
A Carbonic Anhydrase IX/SLC1A5 Axis Regulates Glutamine Metabolism Dependent Ferroptosis in Hypoxic Tumor Cells.
Title: A Carbonic Anhydrase IX/SLC1A5 Axis Regulates Glutamine Metabolism Dependent Ferroptosis in Hypoxic Tumor Cells.
miR-122-5p Restrains Pancreatic Cancer Cell Growth and Causes Apoptosis by Negatively Regulating ASCT2.
Title: miR-122-5p Restrains Pancreatic Cancer Cell Growth and Causes Apoptosis by Negatively Regulating ASCT2.

Submit: New GeneRIF Correction See all GeneRIFs (109)

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

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 SLC1A5	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Cellular biotinylated solute carrier family 1 (neutral amino acid transporter), member 5 (SLC1A5) protein is incorporated into HIV-1 Gag virus-like particles	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:594587 (e-PCR)
- UniSTS:158000

PMC16555P1 (e-PCR)
- UniSTS:271540

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-aspartate transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-aspartate transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables L-glutamine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-glutamine transmembrane transporter activity	TAS Traceable Author Statement more info	PubMed
enables L-serine transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables antiporter activity	IDA Inferred from Direct Assay more info	PubMed
enables ligand-gated channel activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables neutral L-amino acid transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-aspartate import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-aspartate import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in L-glutamine import across plasma membrane	IEA Inferred from Electronic Annotation more info
involved_in L-serine transport	IEA Inferred from Electronic Annotation more info
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutamine secretion	IEA Inferred from Electronic Annotation more info
involved_in glutamine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamine transport	TAS Traceable Author Statement more info	PubMed
involved_in neutral amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotrimerization	IDA Inferred from Direct Assay more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in melanosome	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
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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: neutral amino acid transporter B(0)

Names: ASC amino acid transporter-2; ATB(0); Alanine/serine/cysteine transporter 2; RD114 virus receptor; RD114/simian type D retrovirus receptor; baboon M7 virus receptor; neutral amino acid transporter B; sodium-dependent neutral amino acid transporter type 2; solute carrier family 1 (neutral amino acid transporter), 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.

mRNA and Protein(s)

NM_001145144.2 → NP_001138616.1 neutral amino acid transporter B(0) isoform 2

See identical proteins and their annotated locations for NP_001138616.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC008622, AK301661

Consensus CDS

CCDS46126.1

UniProtKB/TrEMBL

B4DE27

Related

ENSP00000397924.1, ENST00000412532.6

Conserved Domains (1) summary

pfam00375
Location:2 → 254

SDF; Sodium:dicarboxylate symporter family
NM_001145145.2 → NP_001138617.1 neutral amino acid transporter B(0) isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC008622, AK299137

Consensus CDS

CCDS46125.1

UniProtKB/TrEMBL

M0QXM4

Related

ENSP00000406532.1, ENST00000434726.6

Conserved Domains (1) summary

pfam00375
Location:28 → 280

SDF; Sodium:dicarboxylate symporter family
NM_005628.3 → NP_005619.1 neutral amino acid transporter B(0) isoform 1

See identical proteins and their annotated locations for NP_005619.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB209738, AC008622, AK301661, U53347

Consensus CDS

CCDS12692.1

UniProtKB/Swiss-Prot

A8K9H5, B4DR77, B4DWS4, B7ZB81, D0EYG6, E9PC01, O95720, Q15758, Q96RL9, Q9BWQ3, Q9UNP2

UniProtKB/TrEMBL

Q71UA6

Related

ENSP00000444408.1, ENST00000542575.6

Conserved Domains (1) summary

pfam00375
Location:106 → 482

SDF; Sodium:dicarboxylate symporter family