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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 Platelet activation, signaling and aggregation and Blood-Brain Barrier Pathway: Anatomy. 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.

Gene Wiki entry for SLC7A5 Gene

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

Genomics for SLC7A5 Gene

Regulatory Elements for SLC7A5 Gene

Enhancers for SLC7A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC7A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC7A5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A5 Gene

Chromosome:
16
Start:
87,830,023 bp from pter
End:
87,869,497 bp from pter
Size:
39,475 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.
    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 Lys 19 and Lys 30
  • Glycosylation at Asn 49, Asn 230, and Asn 340
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC7A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.
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.

Gene Ontology (GO) - Molecular Function for SLC7A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0042605 peptide antigen binding ISS --
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

Flow Cytometry 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
Jensen Localization Image for SLC7A5 Gene COMPARTMENTS Subcellular localization image for SLC7A5 gene
Compartment Confidence
cytosol 5
extracellular 5
plasma membrane 5
nucleus 2
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC7A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IDA 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 TAS --
GO:0007399 nervous system development IEA --
GO:0015804 neutral amino acid transport ISS --
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 697
Dextrothyroxine Approved Pharma Transporter 0
levodopa Approved Pharma Agonist, Transporter 379
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

Flow Cytometry 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 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.
genes like me logo Genes that share expression patterns with SLC7A5: view

Primer Products

Orthologs for SLC7A5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC7A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC7A5 34
  • 89.97 (n)
  • 93.43 (a)
LAT 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A5 34
  • 89.61 (n)
  • 93.1 (a)
SLC7A5 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a5 34
  • 87.22 (n)
  • 93.33 (a)
Slc7a5 16
Slc7a5 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC7A5 34
  • 99.47 (n)
  • 99.61 (a)
SLC7A5 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a5 34
  • 87.5 (n)
  • 93.54 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC7A5 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A5 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A5 34
  • 81.14 (n)
  • 86.01 (a)
SLC7A5 35
  • 75 (a)
OneToMany
SLC7A5 35
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 47 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a5 34
  • 74.53 (n)
  • 84 (a)
Str.17935 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68975 34
zebrafish
(Danio rerio)
Actinopterygii LOC797250 34
  • 74.15 (n)
  • 83.05 (a)
SLC7A5 35
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6070 36
  • 45 (a)
JhI-21 36
  • 51 (a)
mnd 36
  • 52 (a)
JhI-21 34
  • 59.21 (n)
  • 52.85 (a)
CG1607 35
  • 47 (a)
ManyToMany
gb 35
  • 43 (a)
ManyToMany
JhI-21 35
  • 48 (a)
ManyToMany
mnd 35
  • 49 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012643 34
  • 50.79 (n)
  • 48.81 (a)
worm
(Caenorhabditis elegans)
Secernentea C55C2.5a 36
  • 31 (a)
C55C2.5b 36
  • 31 (a)
F07C3.7 36
  • 43 (a)
F27C8.1 36
  • 48 (a)
F52H2.2 36
  • 45 (a)
T11F9.4 36
  • 35 (a)
T13A10.10 36
  • 33 (a)
Y53H1C.1 36
  • 33 (a)
aat-2 35
  • 45 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5005 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8408 35
  • 50 (a)
OneToOne
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 Sequence Context AA Info Type
rs1060250 - 87,841,130(-) CCCAA(C/G)TTCTC reference, missense
rs17853937 - 87,841,152(+) ACACA(A/T)CACCT reference, missense
rs3213417 -- 87,851,531(+) CCCAC(A/G)GGAGC intron-variant
rs3217147 -- 87,840,506(+) TATAT(-/G)ATCCT intron-variant
rs3217148 -- 87,840,617(+) GGGAG(-/GGAG)CTCAG 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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • dibasic amino aciduria ii
phenylketonuria
  • følling's disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC7A5

Genetic Association Database (GAD)
SLC7A5
Human Genome Epidemiology (HuGE) Navigator
SLC7A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A5
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. (Neurosci. Lett. 2008) 3 4 22 65
  2. Genetic polymorphisms in the amino acid transporters LAT1 and LAT2 in relation to the pharmacokinetics and side effects of melphalan. (PMID: 17558306) KA1hne A. … BrockmAPller J. (Pharmacogenet. Genomics 2007) 3 22 46 65
  3. L-type amino acid transporter 1 as a potential molecular target in human astrocytic tumors. (PMID: 16496379) Nawashiro H. … Endou H. (Int. J. Cancer 2006) 3 4 22 65
  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 A.R. (J. Biol. Chem. 2005) 3 4 22 65
  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 A.K. (Invest. Ophthalmol. Vis. Sci. 2003) 3 4 22 65

Products for SLC7A5 Gene

Sources for SLC7A5 Gene

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