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Aliases for SLC7A5 Gene

Aliases for SLC7A5 Gene

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

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 Lysinuric Protein Intolerance and Phenylketonuria. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Viral mRNA Translation. 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 for SLC7A5 Gene

  • Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567).

Gene Wiki entry for SLC7A5 Gene

Additional gene information for SLC7A5 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A5 Gene

Genomics for SLC7A5 Gene

GeneHancer (GH) Regulatory Elements for SLC7A5 Gene

Promoters and enhancers for SLC7A5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I087864 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.1 128 8.8 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC7A5 ZC3H18 BANP KLHDC4 ZCCHC14 CTU2 TRAPPC2L CA5A MAP1LC3B FBXO31
GH16I087841 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +17.0 17004 22.9 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SSRP1 BANP SLC7A5 FBXO31 LOC400553 ZCCHC14 APRT MAP1LC3B CA5A KLHDC4 PIR45032
GH16I087805 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +61.1 61070 5.5 PKNOX1 ARID4B NEUROD1 SIN3A DMAP1 IRF4 POLR2B ZNF766 E2F8 ZNF143 ENSG00000260177 SLC7A5 LOC101928659 CTU2 ZCCHC14 RNF166 MIR6775
GH16I087836 Enhancer 1 ENCODE dbSUPER 8.3 +34.4 34378 0.6 NCOA3 PKNOX1 ESRRA NFIB NEUROD1 EBF1 ZBTB7B HIC1 E2F1 ZFHX2 ENSG00000260466 MIR6775 SLC7A5
GH16I087821 Enhancer 1 FANTOM5 ENCODE dbSUPER 6.8 +47.2 47155 2.1 HDAC1 SMARCE1 FOSL1 HDAC2 SIN3A ZBTB33 TRIM24 HDAC8 KLHDC4 SLC7A5 MIR6775 ENSG00000260177
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SLC7A5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SLC7A5 gene promoter:

Genomic Locations for SLC7A5 Gene

Genomic Locations for SLC7A5 Gene
chr16:87,830,023-87,869,497
(GRCh38/hg38)
Size:
39,475 bases
Orientation:
Minus strand
chr16:87,863,629-87,903,100
(GRCh37/hg19)

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:11311135, PubMed:11389679, PubMed:11557028, PubMed:11564694, PubMed:12225859, PubMed:15769744, PubMed:9751058). Interacts with LAPTM4B; recruits 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 asparginine. 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).

neXtProt entry for SLC7A5 Gene

Post-translational modifications for SLC7A5 Gene

  • Ubiquitination at isoforms=19 and isoforms=30
  • Glycosylation at isoforms=49, posLast=230230, and isoforms=340
  • 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

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

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
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};
UniProtKB/Swiss-Prot Function:
Sodium-independent, high-affinity transport of large neutral amino acids such as phenylalanine, tyrosine, leucine, arginine and tryptophan, when associated with SLC3A2/4F2hc. Involved in cellular amino acid uptake. Acts as an amino acid exchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3) and thyroxine (T4) across the cell membrane in tissues such as placenta. Plays a role in neuronal cell proliferation (neurogenesis) in brain. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play an important role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier which in turn may play a key role in maintaining large neutral amino acids as well as neurotransmitters in the neural retina. Acts as the major transporter of tyrosine in fibroblasts. When associated with LAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (PubMed:25998567).
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.

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:0015175 neutral amino acid transmembrane transporter activity TAS 9751058
GO:0015179 L-amino acid transmembrane transporter activity IEA,IBA --
GO:0015297 antiporter activity IBA --
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

Clone Products

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

Cytoplasm, cytosol. Apical cell membrane; Multi-pass membrane protein. Note=Located to the plasma membrane by SLC3A2/4F2hc. Localized to the apical membrane of placental syncytiophoblastic cells. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). {ECO:0000250}.

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
extracellular 5
cytosol 5
nucleus 2
lysosome 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:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,IEA --
GO:0005886 plasma membrane TAS,NAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA,HDA 19946888
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:0006520 cellular amino acid metabolic process TAS 9751058
GO:0006810 transport TAS 9751058
GO:0006865 amino acid transport IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development 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

(22) 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 752
Dextrothyroxine Approved, Investigational Pharma Transporter 0
Levodopa Approved Pharma Agonist, Transporter 416
Levothyroxine Approved Pharma Transporter 0
Liothyronine Approved, Vet_approved Pharma Transporter 0

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

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

Transcripts for SLC7A5 Gene

Unigene Clusters for SLC7A5 Gene

Solute carrier family 7 (amino acid transporter light chain, L system), member 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for SLC7A5 Gene

GeneLoc Exon Structure for
SLC7A5
ECgene alternative splicing isoforms for
SLC7A5

Expression for SLC7A5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SLC7A5 Gene



Protein tissue co-expression partners for SLC7A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC7A5 Gene:

SLC7A5

SOURCE GeneReport for Unigene cluster for SLC7A5 Gene:

Hs.513797

mRNA Expression by UniProt/SwissProt for SLC7A5 Gene:

Q01650-LAT1_HUMAN
Tissue specificity: 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(4.5)
  • Blood(4.4)
  • Intestine(4.3)
  • Liver(4.3)
  • Nervous system(4.1)
  • Pancreas(3.6)
  • Lung(3.4)
  • Eye(2.6)
  • Lymph node(2.3)
  • Muscle(2)
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 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia LAT 34
  • 93 (a)
OneToOne
SLC7A5 33
  • 89.97 (n)
dog
(Canis familiaris)
Mammalia SLC7A5 33 34
  • 89.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A5 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a5 33
  • 87.5 (n)
mouse
(Mus musculus)
Mammalia Slc7a5 33 16 34
  • 87.22 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC7A5 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A5 33 34 34
  • 81.14 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 47 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a5 33
  • 74.53 (n)
Str.17935 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68975 33
zebrafish
(Danio rerio)
Actinopterygii SLC7A5 34
  • 76 (a)
OneToOne
LOC797250 33
  • 74.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta JhI-21 35 33 34
  • 59.21 (n)
mnd 35 34
  • 52 (a)
CG1607 34
  • 47 (a)
ManyToMany
CG6070 35
  • 45 (a)
gb 34
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012643 33
  • 50.79 (n)
worm
(Caenorhabditis elegans)
Secernentea F27C8.1 35
  • 48 (a)
F52H2.2 35
  • 45 (a)
aat-2 34
  • 45 (a)
OneToMany
F07C3.7 35
  • 43 (a)
T11F9.4 35
  • 35 (a)
T13A10.10 35
  • 33 (a)
Y53H1C.1 35
  • 33 (a)
C55C2.5a 35
  • 31 (a)
C55C2.5b 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8408 34
  • 50 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5005 33
Species where no ortholog for SLC7A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for SLC7A5 Gene

Paralogs for SLC7A5 Gene

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

Pseudogenes.org Pseudogenes for SLC7A5 Gene

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

Variants for SLC7A5 Gene

Sequence variations from dbSNP and Humsavar for SLC7A5 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000165615 -- 87,846,237(-) T/A intron_variant
rs1000218071 -- 87,855,183(-) C/T intron_variant
rs1000275601 -- 87,842,478(-) C/T intron_variant
rs1000360406 -- 87,863,739(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000478920 -- 87,841,743(-) G/A intron_variant

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

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

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • lpi
phenylketonuria
  • pku
gestational choriocarcinoma
  • gestational chorionepithelioma
oral cancer
  • malignant neoplasm of mouth
maple syrup urine disease
  • msud
- 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
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 22 58
  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 22 44 58
  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 22 58
  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 22 58
  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 22 58

Products for SLC7A5 Gene

Sources for SLC7A5 Gene

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