Aliases for SLC7A5 Gene

Aliases for SLC7A5 Gene

  • Solute Carrier Family 7 Member 5 2 3 4 5
  • MPE16 2 3 4
  • LAT1 2 3 4
  • E16 2 3 4
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, L System), Member 5 2 3
  • Large Neutral Amino Acids Transporter Small Subunit 1 3 4
  • L-Type Amino Acid Transporter 1 3 4
  • Integral Membrane Protein E16 3 4
  • CD98 Light Chain 3 4
  • 4F2 Light Chain 3 4
  • D16S469E 2 3
  • 4F2LC 3 4
  • CD98 2 3
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 5 3
  • Sodium-Independent Neutral Amino Acid Transporter LAT1 3
  • Y+ System Cationic Amino Acid Transporter 4
  • SLC7A5 5
  • CD98LC 4
  • 4F2 LC 4
  • HLAT1 4

External Ids for SLC7A5 Gene

Previous GeneCards Identifiers for SLC7A5 Gene

  • GC16M079198
  • GC16M088894
  • GC16M087604
  • GC16M087645
  • GC16M086421
  • GC16M087863

Summaries for SLC7A5 Gene

GeneCards Summary for SLC7A5 Gene

SLC7A5 (Solute Carrier Family 7 Member 5) is a Protein Coding gene. Diseases associated with SLC7A5 include Phenylketonuria and Lysinuric Protein Intolerance. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include peptide antigen binding and antiporter activity. An important paralog of this gene is SLC7A8.

UniProtKB/Swiss-Prot Summary for SLC7A5 Gene

  • The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan (PubMed:9751058, PubMed:10049700, PubMed:11557028, PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:25998567, PubMed:30867591). Functions as an amino acid exchanger (PubMed:11557028, PubMed:12117417, PubMed:12225859, PubMed:30867591). May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can mediate the transport of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane (PubMed:11564694, PubMed:12225859). When associated with LAPTM4B, the heterodimer formed by SLC3A2 and SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Involved in the uptake of toxic methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the membrane (PubMed:15769744).

Gene Wiki entry for SLC7A5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC7A5 Gene

Genomics for SLC7A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC7A5 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 SLC7A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC7A5

Top Transcription factor binding sites by QIAGEN in the SLC7A5 gene promoter:
  • CP2
  • FOXO3
  • FOXO3a
  • FOXO3b
  • NF-1
  • NF-1/L
  • Pax-4a
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for SLC7A5 Gene

Genomic Locations for SLC7A5 Gene
chr16:87,830,022-87,869,507
(GRCh38/hg38)
Size:
39,486 bases
Orientation:
Minus strand
chr16:87,863,629-87,903,100
(GRCh37/hg19)
Size:
39,472 bases
Orientation:
Minus strand

Genomic View for SLC7A5 Gene

Genes around SLC7A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A5 Gene

Proteins for SLC7A5 Gene

  • Protein details for SLC7A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01650-LAT1_HUMAN
    Recommended name:
    Large neutral amino acids transporter small subunit 1
    Protein Accession:
    Q01650
    Secondary Accessions:
    • Q8IV97
    • Q9UBN8
    • Q9UP15
    • Q9UQC0

    Protein attributes for SLC7A5 Gene

    Size:
    507 amino acids
    Molecular mass:
    55010 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc (PubMed:10049700, PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:11389679, PubMed:11557028, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:15769744, PubMed:9751058, PubMed:25998567, PubMed:30867591). Interacts with LAPTM4B; this recruits the heterodimer formed by SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567).
    Miscellaneous:
    • The uptake of leucine, tyrosine and tryptophan is inhibited by the different iodothyronines, in particular T3. Leucine transport is also inhibited by small zwitterionic amino acids (i.e. glycine, alanine, serine, threonine and cysteine) and by glutamine and asparagine. The uptake of T3 is almost completely blocked by coincubation with leucine, tryptophan, tyrosine, and phenylalanine, or 2-amino-bicyclo-(2,2,1)-heptane-2-carboxylate (BCH). Methionine uptake was inhibited by the L-system substrates L-leucine, BCH, L-cysteine and by the MeHg-L-cysteine complex and structurally related S-ethyl-L-cysteine. MeHg-L-cysteine uptake is inhibited by L-methionine, L-leucine, BCH and S-ethyl-L-cysteine. L-leucine uptake was inhibited by L-CNSO. Tyrosine uptake in fibroblasts was inhibited by D-methionine, and methyl-aminoisobutyric acid (MeAIB).

    Three dimensional structures from OCA and Proteopedia for SLC7A5 Gene

neXtProt entry for SLC7A5 Gene

Post-translational modifications for SLC7A5 Gene

  • Ubiquitination at Lys19 and Lys30
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC7A5 Gene

No data available for DME Specific Peptides for SLC7A5 Gene

Domains & Families for SLC7A5 Gene

Gene Families for SLC7A5 Gene

Protein Domains for SLC7A5 Gene

Suggested Antigen Peptide Sequences for SLC7A5 Gene

GenScript: Design optimal peptide antigens:
  • y+ system cationic amino acid transporter (LAT1_HUMAN)
  • Large neutral amino acids transporter 1 (Q2MCL6_HUMAN)
  • Solute carrier family 7 (Cationic amino acid transporter, y+ system), member 5 (Q8IV97_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01650

UniProtKB/Swiss-Prot:

LAT1_HUMAN :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.
genes like me logo Genes that share domains with SLC7A5: view

Function for SLC7A5 Gene

Molecular function for SLC7A5 Gene

UniProtKB/Swiss-Prot Function:
The heterodimer with SLC3A2 functions as sodium-independent, high-affinity transporter that mediates uptake of large neutral amino acids such as phenylalanine, tyrosine, L-DOPA, leucine, histidine, methionine and tryptophan (PubMed:9751058, PubMed:10049700, PubMed:11557028, PubMed:10391915, PubMed:10574970, PubMed:11311135, PubMed:11564694, PubMed:12117417, PubMed:12225859, PubMed:25998567, PubMed:30867591). Functions as an amino acid exchanger (PubMed:11557028, PubMed:12117417, PubMed:12225859, PubMed:30867591). May play a role in the transport of L-DOPA across the blood-brain barrier (By similarity). May act as the major transporter of tyrosine in fibroblasts (Probable). May mediate blood-to-retina L-leucine transport across the inner blood-retinal barrier (By similarity). Can mediate the transport of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane (PubMed:11564694, PubMed:12225859). When associated with LAPTM4B, the heterodimer formed by SLC3A2 and SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation (PubMed:25998567). Involved in the uptake of toxic methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes (PubMed:12117417). Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the membrane (PubMed:15769744).
UniProtKB/Swiss-Prot Induction:
Expression induced in quiescent peripheral blood lymphocytes after treatment with phorbol myristate acetate (PMA) and phytohemagglutinin (PHA). Expression and the uptake of leucine is stimulated in mononuclear, cytotrophoblast-like choriocarcinoma cells by combined treatment with PMA and calcium ionophore.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.9 uM for T4 (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=0.8 uM for T3 (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=12.5 uM for reverse triiodothyronine (rT3) (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=7.9 uM for 3,3'-diiodothyronine (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=46 uM for leucine (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=19 uM for tryptophan (in the presence of choline chloride) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=32 uM for L-leucine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=10 mM for L-alanine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=2.2 mM for L-glutamine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=35 uM for L-histidine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=740 uM for L-phenylalanine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=98 uM for MeHg-L-cysteine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=99 uM for methionine {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=55.2 uM for phenylalanine (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=60.4 uM for tyrosine (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=16.4 uM for tyrosine (in human fibroblasts) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=138 uM for Dopa (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=96.5 uM for 3-O-methyldopa (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=153 uM for alpha-methyltyrosine (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=216 uM for alpha-methyldopa (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=191 uM for gabapentin (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=7.3 uM for triiodothyronine (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=162 uM for thyroxine (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=75.3 uM for melphanan (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359}; KM=156 uM for BCH (in T24 human bladder carcinoma cells) {ECO:0000269|PubMed:10574970, ECO:0000269|PubMed:11564694, ECO:0000269|PubMed:12117417, ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:18262359};
GENATLAS Biochemistry:
solute carrier family 7,member 5,40kDa,human cell surface glycoprotein 4F2 light chain,heterodimerizing with the cell surface glycoprotein 4F2 heavy chain (CD98) to form a complex mediating L-type (sodium independent exchange) of large neutral amino acids transport,not expressed in the intestine

Phenotypes From GWAS Catalog for SLC7A5 Gene

Gene Ontology (GO) - Molecular Function for SLC7A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25998567
GO:0015171 amino acid transmembrane transporter activity ISS --
GO:0015179 L-amino acid transmembrane transporter activity IEA,IBA 21873635
GO:0015190 L-leucine transmembrane transporter activity IDA 30867591
GO:0015196 L-tryptophan transmembrane transporter activity IDA 30867591
genes like me logo Genes that share ontologies with SLC7A5: view
genes like me logo Genes that share phenotypes with SLC7A5: view

Animal Models for SLC7A5 Gene

MGI Knock Outs for SLC7A5:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A5

CRISPR Products

miRNA for SLC7A5 Gene

miRTarBase miRNAs that target SLC7A5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC7A5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC7A5 Gene

Localization for SLC7A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A5 Gene

Apical cell membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Note=Located to the plasma membrane by SLC3A2/4F2hc (PubMed:9751058). Localized to the apical membrane of placental syncytiotrophoblastic cells (PubMed:11742812). Recruited to lysosomes by LAPTM4B (PubMed:25998567). Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO:0000250, ECO:0000269 PubMed:11742812, ECO:0000269 PubMed:25998567, ECO:0000269 PubMed:9751058}.

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 SLC7A5 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 4
lysosome 4
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC7A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0009925 basal plasma membrane IEA,ISS 18619525
genes like me logo Genes that share ontologies with SLC7A5: view

Pathways & Interactions for SLC7A5 Gene

genes like me logo Genes that share pathways with SLC7A5: view

Gene Ontology (GO) - Biological Process for SLC7A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IBA 21873635
GO:0006865 amino acid transport IEA --
GO:0015803 branched-chain amino acid transport IEA --
GO:0015804 neutral amino acid transport ISS --
GO:0015807 L-amino acid transport IEA --
genes like me logo Genes that share ontologies with SLC7A5: view

No data available for SIGNOR curated interactions for SLC7A5 Gene

Drugs & Compounds for SLC7A5 Gene

(25) Drugs for SLC7A5 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melphalan Approved Pharma Transporter 830
Dextrothyroxine Approved, Investigational Pharma Transporter 0
Gabapentin Approved, Investigational Pharma Transporter, substrate GABA enhancer 407
Levodopa Approved Pharma Agonist, Transporter 470
Levothyroxine Approved Pharma Transporter 0

(5) Additional Compounds for SLC7A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC7A5: view

Transcripts for SLC7A5 Gene

mRNA/cDNA for SLC7A5 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 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 SLC7A5

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A5 Gene

No ASD Table

Relevant External Links for SLC7A5 Gene

GeneLoc Exon Structure for
SLC7A5

Expression for SLC7A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC7A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A5 Gene

This gene is overexpressed in Esophagus - Mucosa (x4.1).

Protein differential expression in normal tissues from HIPED for SLC7A5 Gene

This gene is overexpressed in Breast (28.7) and Amniocyte (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC7A5 Gene



Protein tissue co-expression partners for SLC7A5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC7A5

SOURCE GeneReport for Unigene cluster for SLC7A5 Gene:

Hs.513797

mRNA Expression by UniProt/SwissProt for SLC7A5 Gene:

Q01650-LAT1_HUMAN
Tissue specificity: Detected in placenta, in the syncytiotrophoblast layer (at protein level) (PubMed:11389679). Expressed abundantly in adult lung, liver, brain, skeletal muscle, placenta, bone marrow, testis, resting lymphocytes and monocytes, and in fetal liver. Weaker expression in thymus, cornea, retina, peripheral leukocytes, spleen, kidney, colon and lymph node. During gestation, expression in the placenta was significantly stronger at full-term than at the mid-trimester stage. Also expressed in all human tumor cell lines tested and in the astrocytic process of primary astrocytic gliomas. Expressed in retinal endothelial cells and in the intestinal epithelial cell line Caco-2.

Evidence on tissue expression from TISSUES for SLC7A5 Gene

  • Skin(4.7)
  • Blood(4.6)
  • Intestine(4.5)
  • Liver(4.5)
  • Nervous system(4.3)
  • Pancreas(4)
  • Lung(3.5)
  • Eye(3.2)
  • Lymph node(2.8)
  • Spleen(2.8)
  • Muscle(2.6)
  • Bone marrow(2.6)
  • Kidney(2.5)
  • Heart(2.5)
  • Thyroid gland(2.4)
genes like me logo Genes that share expression patterns with SLC7A5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A5 Gene

Orthologs for SLC7A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC7A5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC7A5 30 31
  • 99.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LAT 31
  • 93 (a)
OneToOne
SLC7A5 30
  • 89.97 (n)
Dog
(Canis familiaris)
Mammalia SLC7A5 30 31
  • 89.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A5 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc7a5 30
  • 87.5 (n)
Mouse
(Mus musculus)
Mammalia Slc7a5 30 17 31
  • 87.22 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC7A5 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SLC7A5 30 31 31
  • 81.14 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 47 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc7a5 30
  • 74.53 (n)
Str.17935 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68975 30
Zebrafish
(Danio rerio)
Actinopterygii SLC7A5 31
  • 76 (a)
OneToOne
LOC797250 30
  • 74.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta JhI-21 30 31 32
  • 59.21 (n)
ManyToMany
mnd 31 32
  • 49 (a)
ManyToMany
CG1607 31
  • 47 (a)
ManyToMany
CG6070 32
  • 45 (a)
gb 31
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012643 30
  • 50.79 (n)
Worm
(Caenorhabditis elegans)
Secernentea F27C8.1 32
  • 48 (a)
aat-2 31
  • 45 (a)
OneToMany
F52H2.2 32
  • 45 (a)
F07C3.7 32
  • 43 (a)
T11F9.4 32
  • 35 (a)
T13A10.10 32
  • 33 (a)
Y53H1C.1 32
  • 33 (a)
C55C2.5a 32
  • 31 (a)
C55C2.5b 32
  • 31 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8408 31
  • 50 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5005 30
Species where no ortholog for SLC7A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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 SLC7A5 Gene

ENSEMBL:
Gene Tree for SLC7A5 (if available)
TreeFam:
Gene Tree for SLC7A5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC7A5: view image

Paralogs for SLC7A5 Gene

(12) SIMAP similar genes for SLC7A5 Gene using alignment to 2 proteins:

  • LAT1_HUMAN
  • Q2MCL6_HUMAN

Pseudogenes.org Pseudogenes for SLC7A5 Gene

genes like me logo Genes that share paralogs with SLC7A5: view

Variants for SLC7A5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC7A5 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
730064 Benign: not provided 87,851,791(-) G/A SYNONYMOUS_VARIANT
731128 Benign: not provided 87,869,036(-) G/A SYNONYMOUS_VARIANT
777064 Benign: not provided 87,841,152(-) T/A MISSENSE_VARIANT
780313 Benign: not provided 87,838,749(-) G/A SYNONYMOUS_VARIANT
780314 Benign: not provided 87,841,130(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC7A5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC7A5 Gene

Variant ID Type Subtype PubMed ID
dgv3062n100 CNV loss 25217958
dgv36n68 CNV loss 17160897
esv1188587 CNV insertion 17803354
esv24582 CNV gain 19812545
esv2668850 CNV deletion 23128226
esv3553854 CNV deletion 23714750
esv3582432 CNV loss 25503493
esv3639534 CNV loss 21293372
esv3892935 CNV loss 25118596
nsv1059786 CNV gain 25217958
nsv1062946 CNV gain 25217958
nsv1160441 CNV deletion 26073780
nsv457616 CNV gain 19166990
nsv573536 CNV gain 21841781
nsv573557 CNV loss 21841781
nsv833322 CNV loss 17160897
nsv984361 CNV duplication 23825009

Variation tolerance for SLC7A5 Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC7A5 Gene

Human Gene Mutation Database (HGMD)
SLC7A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A5 Gene

Disorders for SLC7A5 Gene

MalaCards: The human disease database

(10) MalaCards diseases for SLC7A5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
phenylketonuria
  • pku
lysinuric protein intolerance
  • lpi
maple syrup urine disease
  • dihydrolipoamide dehydrogenase deficiency
extrahepatic bile duct adenocarcinoma
  • adenocarcinoma of extrahepatic bile duct
thymic carcinoma
  • malignant thymoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC7A5

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 SLC7A5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A5 Gene

Publications for SLC7A5 Gene

  1. Functional characterization of tyrosine transport in fibroblast cells from healthy controls. (PMID: 18262359) Vumma R … Venizelos N (Neuroscience letters 2008) 3 4 23
  2. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PMID: 17558306) Kühne A … Brockmöller J (Pharmacogenetics and genomics 2007) 3 23 41
  3. L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. (PMID: 16496379) Nawashiro H … Endou H (International journal of cancer 2006) 3 4 23
  4. Identification of stereoselective transporters for S-nitroso-L-cysteine: role of LAT1 and LAT2 in biological activity of S-nitrosothiols. (PMID: 15769744) Li S … Whorton AR (The Journal of biological chemistry 2005) 3 4 23
  5. Identification and functional characterization of a Na+-independent large neutral amino acid transporter, LAT1, in human and rabbit cornea. (PMID: 12824232) Jain-Vakkalagadda B … Mitra AK (Investigative ophthalmology & visual science 2003) 3 4 23

Products for SLC7A5 Gene

Sources for SLC7A5 Gene