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] See more...

Aliases for SLC1A5 Gene

Aliases for SLC1A5 Gene

  • Solute Carrier Family 1 Member 5 2 3 4 5
  • ASCT2 2 3 4
  • Solute Carrier Family 1 (Neutral Amino Acid Transporter), Member 5 2 3
  • Sodium-Dependent Neutral Amino Acid Transporter Type 2 3 4
  • RD114/Simian Type D Retrovirus Receptor 3 4
  • Neutral Amino Acid Transporter B(0) 3 4
  • Baboon M7 Virus Receptor 3 4
  • ATB(0) 3 4
  • AAAT 2 3
  • M7V1 3 4
  • RDRC 3 4
  • Neutral Amino Acid Transporter B 3
  • RD114 Virus Receptor 3
  • SLC1A5 5
  • M7VS1 3
  • ATBO 3
  • R16 3
  • RDR 4

External Ids for SLC1A5 Gene

Previous HGNC Symbols for SLC1A5 Gene

  • RDRC
  • M7V1

Previous GeneCards Identifiers for SLC1A5 Gene

  • GC19M047922
  • GC19M047669
  • GC19M051954
  • GC19M051969
  • GC19M047278
  • GC19M043702

Summaries for SLC1A5 Gene

Entrez Gene Summary for SLC1A5 Gene

  • 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]

GeneCards Summary for SLC1A5 Gene

SLC1A5 (Solute Carrier Family 1 Member 5) is a Protein Coding gene. Diseases associated with SLC1A5 include Hartnup Disorder and Placental Choriocarcinoma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity. An important paralog of this gene is SLC1A4.

UniProtKB/Swiss-Prot Summary for SLC1A5 Gene

  • Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids (PubMed:8702519, PubMed:29872227). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed:10708449, PubMed:23492904).
  • (Microbial infection) Acts as a cell surface receptor for Feline endogenous virus RD114.
  • (Microbial infection) Acts as a cell surface receptor for Baboon M7 endogenous virus.
  • (Microbial infection) Acts as a cell surface receptor for type D simian retroviruses.

Gene Wiki entry for SLC1A5 Gene

Additional gene information for SLC1A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC1A5 Gene

Genomics for SLC1A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC1A5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC1A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC1A5

Top Transcription factor binding sites by QIAGEN in the SLC1A5 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • N-Myc
  • SRF
  • SRF (504 AA)

Genomic Locations for SLC1A5 Gene

Genomic Locations for SLC1A5 Gene
chr19:46,774,883-46,788,594
(GRCh38/hg38)
Size:
13,712 bases
Orientation:
Minus strand
chr19:47,278,140-47,291,851
(GRCh37/hg19)
Size:
13,712 bases
Orientation:
Minus strand

Genomic View for SLC1A5 Gene

Genes around SLC1A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC1A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC1A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC1A5 Gene

Proteins for SLC1A5 Gene

  • Protein details for SLC1A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15758-AAAT_HUMAN
    Recommended name:
    Neutral amino acid transporter B(0)
    Protein Accession:
    Q15758
    Secondary Accessions:
    • A8K9H5
    • B4DR77
    • B4DWS4
    • B7ZB81
    • D0EYG6
    • E9PC01
    • O95720
    • Q96RL9
    • Q9BWQ3
    • Q9UNP2

    Protein attributes for SLC1A5 Gene

    Size:
    541 amino acids
    Molecular mass:
    56598 Da
    Quaternary structure:
    • Homotrimer (Probable) (PubMed:29872227). Interacts with ERVH48-1/suppressyn; may negatively regulate syncytialization (PubMed:23492904).

    Three dimensional structures from OCA and Proteopedia for SLC1A5 Gene

    Alternative splice isoforms for SLC1A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC1A5 Gene

Post-translational modifications for SLC1A5 Gene

  • Glycosylation at Asn212 and Asn163
  • Ubiquitination at Lys372, Lys502, Lys522, and Lys537
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for SLC1A5 Gene

No data available for DME Specific Peptides for SLC1A5 Gene

Domains & Families for SLC1A5 Gene

Gene Families for SLC1A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC1A5 Gene

InterPro:
Blocks:
  • Sodium:dicarboxylate symporter
ProtoNet:

Suggested Antigen Peptide Sequences for SLC1A5 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 1 member 5 (AAAT_HUMAN)
  • cDNA FLJ57638, highly similar to Neutral amino acid transporter B(0) (B4DWS4_HUMAN)
  • Neutral amino acid transporter (Q71UA6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15758

UniProtKB/Swiss-Prot:

AAAT_HUMAN :
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A5 subfamily.
Family:
  • Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A5 subfamily.
genes like me logo Genes that share domains with SLC1A5: view

Function for SLC1A5 Gene

Molecular function for SLC1A5 Gene

UniProtKB/Swiss-Prot Function:
Sodium-dependent amino acids transporter that has a broad substrate specificity, with a preference for zwitterionic amino acids. It accepts as substrates all neutral amino acids, including glutamine, asparagine, and branched-chain and aromatic amino acids, and excludes methylated, anionic, and cationic amino acids (PubMed:8702519, PubMed:29872227). Through binding of the fusogenic protein syncytin-1/ERVW-1 may mediate trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development (PubMed:10708449, PubMed:23492904).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a cell surface receptor for Feline endogenous virus RD114.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a cell surface receptor for Baboon M7 endogenous virus.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a cell surface receptor for type D simian retroviruses.
GENATLAS Biochemistry:
solute carrier family 1 (glutamate/neutral amino acid transport),member 5

Phenotypes From GWAS Catalog for SLC1A5 Gene

Gene Ontology (GO) - Molecular Function for SLC1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IPI 23492904
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015175 neutral amino acid transmembrane transporter activity TAS 10051606
GO:0015183 L-aspartate transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with SLC1A5: view
genes like me logo Genes that share phenotypes with SLC1A5: view

Animal Models for SLC1A5 Gene

MGI Knock Outs for SLC1A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC1A5

CRISPR Products

miRNA for SLC1A5 Gene

miRTarBase miRNAs that target SLC1A5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC1A5 Gene

Localization for SLC1A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC1A5 Gene

Cell membrane. Multi-pass membrane protein. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC1A5 gene
Compartment Confidence
plasma membrane 5
extracellular 4
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8702519
GO:0009925 basal plasma membrane ISS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA,IDA 29872227
genes like me logo Genes that share ontologies with SLC1A5: view

Pathways & Interactions for SLC1A5 Gene

genes like me logo Genes that share pathways with SLC1A5: view

Gene Ontology (GO) - Biological Process for SLC1A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006865 amino acid transport TAS --
GO:0006868 glutamine transport IDA,TAS 21757002
GO:0010585 glutamine secretion IEA --
GO:0015804 neutral amino acid transport TAS 10051606
GO:0015825 L-serine transport IEA --
genes like me logo Genes that share ontologies with SLC1A5: view

No data available for SIGNOR curated interactions for SLC1A5 Gene

Drugs & Compounds for SLC1A5 Gene

(8) Drugs for SLC1A5 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra Target 36
L-Glutamine Approved, Investigational Nutra Agonist, Full agonist, Transporter, substrate 0
Fluciclovine (18F) Approved Pharma Target, binder 0
benzylcysteine Pharma Inhibitor, Inhibition 0
benzylserine Pharma Inhibitor, Inhibition 0

(3) Additional Compounds for SLC1A5 Gene - From: IUPHAR, Novoseek, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
p-nitrophenyl glutamyl anilide
Inhibitor, Inhibition
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC1A5: view

Transcripts for SLC1A5 Gene

mRNA/cDNA for SLC1A5 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC1A5

Alternative Splicing Database (ASD) splice patterns (SP) for SLC1A5 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b
SP1: - - -
SP2:
SP3: - - - -
SP4: -
SP5: -
SP6:

Relevant External Links for SLC1A5 Gene

GeneLoc Exon Structure for
SLC1A5

Expression for SLC1A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC1A5 Gene

Protein differential expression in normal tissues from HIPED for SLC1A5 Gene

This gene is overexpressed in Nasal epithelium (29.9), Bone (11.7), and Liver (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC1A5 Gene



Protein tissue co-expression partners for SLC1A5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC1A5

SOURCE GeneReport for Unigene cluster for SLC1A5 Gene:

Hs.631582

mRNA Expression by UniProt/SwissProt for SLC1A5 Gene:

Q15758-AAAT_HUMAN
Tissue specificity: Placenta, lung, skeletal muscle, kidney, pancreas, and intestine.

Evidence on tissue expression from TISSUES for SLC1A5 Gene

  • Kidney(4.7)
  • Intestine(4.4)
  • Nervous system(3.9)
  • Lung(3.7)
  • Skin(3.6)
  • Pancreas(3.1)
  • Eye(3.1)
  • Blood(3)
  • Liver(3)
  • Bone marrow(2.5)
  • Lymph node(2.5)
  • Muscle(2.4)
  • Heart(2.4)
  • Spleen(2.4)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with SLC1A5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC1A5 Gene

Orthologs for SLC1A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC1A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC1A5 30 31
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC1A5 30 31
  • 86.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC1A5 30 31
  • 84.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc1a5 30 17 31
  • 81.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc1a5 30
  • 79.38 (n)
Oppossum
(Monodelphis domestica)
Mammalia SLC1A5 31
  • 66 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC1A5 31
  • 52 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SLC1A5 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc1a5 30
  • 69.29 (n)
Zebrafish
(Danio rerio)
Actinopterygii slc1a5 30 31 31
  • 67.18 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Eaat1 31 32
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea glt-4 31
  • 35 (a)
OneToMany
W03G1.1 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
OneToMany
Species where no ortholog for SLC1A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC1A5 Gene

ENSEMBL:
Gene Tree for SLC1A5 (if available)
TreeFam:
Gene Tree for SLC1A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC1A5: view image

Paralogs for SLC1A5 Gene

Paralogs for SLC1A5 Gene

(6) SIMAP similar genes for SLC1A5 Gene using alignment to 5 proteins:

  • AAAT_HUMAN
  • M0QX44_HUMAN
  • M0QXM4_HUMAN
  • M0R144_HUMAN
  • Q71UA6_HUMAN
genes like me logo Genes that share paralogs with SLC1A5: view

Variants for SLC1A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC1A5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
775581 Benign: not provided 46,777,006(-) T/G MISSENSE_VARIANT
rs3027956 - p.Pro17Ala
rs3027961 - p.Val512Leu

Additional dbSNP identifiers (rs#s) for SLC1A5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC1A5 Gene

Variant ID Type Subtype PubMed ID
dgv3608n100 CNV gain 25217958
esv1008167 CNV deletion 20482838
esv3893223 CNV gain 25118596
esv3893224 CNV gain 25118596
nsv1065221 CNV gain 25217958
nsv833850 CNV loss 17160897

Variation tolerance for SLC1A5 Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.18; 84.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC1A5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC1A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC1A5 Gene

Disorders for SLC1A5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for SLC1A5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hartnup disorder
  • hnd
placental choriocarcinoma
  • choriocarcinoma of the placenta
cystinuria
  • csnu
pancreatic ductal carcinoma
  • malignant neoplasm of duct of wirsung
ritscher-schinzel syndrome 2
  • rtsc2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC1A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with SLC1A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC1A5 Gene

Publications for SLC1A5 Gene

  1. The RD114/simian type D retrovirus receptor is a neutral amino acid transporter. (PMID: 10051606) Rasko JE … Miller AD (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 23
  2. Cloning of the sodium-dependent, broad-scope, neutral amino acid transporter Bo from a human placental choriocarcinoma cell line. (PMID: 8702519) Kekuda R … Ganapathy V (The Journal of biological chemistry 1996) 2 3 4 23
  3. Association study of polymorphisms in the neutral amino acid transporter genes SLC1A4, SLC1A5 and the glycine transporter genes SLC6A5, SLC6A9 with schizophrenia. (PMID: 18638388) Deng X … Fukumaki Y (BMC psychiatry 2008) 3 23 41
  4. Truncated forms of the dual function human ASCT2 neutral amino acid transporter/retroviral receptor are translationally initiated at multiple alternative CUG and GUG codons. (PMID: 11350958) Tailor CS … Kabat D (The Journal of biological chemistry 2001) 3 4 23
  5. Cryo-EM structure of the human neutral amino acid transporter ASCT2. (PMID: 29872227) Garaeva AA … Slotboom DJ (Nature structural & molecular biology 2018) 3 4

Products for SLC1A5 Gene