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SLC7A6 Gene(Protein Coding)

Solute Carrier Family 7 Member 6

GCID:
GC16P068298
GIFtS:
57
Genes Participants
UDN Logo

Aliases for SLC7A6 Gene

Aliases for SLC7A6 Gene

  • Solute Carrier Family 7 Member 6 2 3 4
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L System), Member 6 2 3 5
  • Cationic Amino Acid Transporter, Y+ System 3 4
  • Y(+)L-Type Amino Acid Transporter 2 3 4
  • Y+LAT-2 3 4
  • Y+LAT2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 6 3
  • Amino Acid Permease 3
  • KIAA0245 4
  • LAT-2 3
  • LAT3 3

External Ids for SLC7A6 Gene

Previous GeneCards Identifiers for SLC7A6 Gene

  • GC16P058995
  • GC16P068678
  • GC16P068033
  • GC16P068076
  • GC16P068074
  • GC16P066855
  • GC16U900049
  • GC16P054171

Summaries for SLC7A6 Gene

GeneCards Summary for SLC7A6 Gene

SLC7A6 (Solute Carrier Family 7 Member 6) is a Protein Coding gene. Diseases associated with SLC7A6 include 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 Basigin interactions. GO annotations related to this gene include amino acid transmembrane transporter activity and L-amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A10.

UniProtKB/Swiss-Prot for SLC7A6 Gene

  • Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.

Gene Wiki entry for SLC7A6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A6 Gene

Genomics for SLC7A6 Gene

Products:

  1. Regulatory Element

Regulatory Elements for SLC7A6 Gene

Enhancers for SLC7A6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SLC7A6 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC7A6 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the SLC7A6 gene promoter:

Genomic Location for SLC7A6 Gene

Chromosome:
16
Start:
68,263,830 bp from pter
End:
68,301,823 bp from pter
Size:
37,994 bases
Orientation:
Plus strand

Genomic View for SLC7A6 Gene

Genes around SLC7A6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC7A6 Gene

Proteins for SLC7A6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SLC7A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92536-YLAT2_HUMAN
    Recommended name:
    Y+L amino acid transporter 2
    Protein Accession:
    Q92536
    Secondary Accessions:
    • Q68DS4
    • Q7L1N3

    Protein attributes for SLC7A6 Gene

    Size:
    515 amino acids
    Molecular mass:
    56828 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
    SequenceCaution:
    • Sequence=BAA13376.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC7A6 Gene

Proteomics data for SLC7A6 Gene at MOPED

Protein Expression for SLC7A6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC7A6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC7A6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC7A6 Gene

Domains & Families for SLC7A6 Gene

Gene Families for SLC7A6 Gene

HGNC:
IUPHAR :

Protein Domains for SLC7A6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92536

UniProtKB/Swiss-Prot:

YLAT2_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 SLC7A6: view

Function for SLC7A6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for SLC7A6 Gene

GENATLAS Biochemistry:
solute carrier family 7,member A6,heterodimerizing with the cell surface glycoprotein to form a complex mediating y+L -type transporter exchanging cationic aminoacids and/or neutral aminoacids together with sodium,glycoprotein associated aminoacid transporter family
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=295 uM for glutamine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=236 uM for leucine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=120 uM for arginine (in the presence of NaCl) {ECO:0000269 PubMed:10903140}; KM=138 uM for arginine (in the absence of NaCl) {ECO:0000269 PubMed:10903140};
UniProtKB/Swiss-Prot EnzymeRegulation:
Arginine transport is strongly inhibited by lysine, glutamate, leucine, glutamine, methionine and histidine, in the presence of Na(+). Also inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA). Mutual inhibition is observed when leucine or glutamine is used as substrate. Inhibition of arginine and leucine uptake also occurs when SLC3A2/4F2hc is either truncated at its C-terminus or mutated at critical residues within the terminal 15 amino acids.
UniProtKB/Swiss-Prot Function:
Involved in the sodium-independent uptake of dibasic amino acids and sodium-dependent uptake of some neutral amino acids. Requires coexpression with SLC3A2/4F2hc to mediate the uptake of arginine, leucine and glutamine. Also acts as an arginine/glutamine exchanger, following an antiport mechanism for amino acid transport, influencing arginine release in exchange for extracellular amino acids. Plays a role in nitric oxide synthesis in human umbilical vein endothelial cells (HUVECs) via transport of L-arginine. Involved in the transport of L-arginine in monocytes. Reduces uptake of ornithine in retinal pigment epithelial (RPE) cells.

Phenotypes for SLC7A6 Gene

GenomeRNAi human phenotypes for SLC7A6:
genes like me logo Genes that share phenotypes with SLC7A6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A6

miRNA for SLC7A6 Gene

miRTarBase miRNAs that target SLC7A6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC7A6 Gene

Localization for SLC7A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A6 Gene

Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC7A6 Gene COMPARTMENTS Subcellular localization image for SLC7A6 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC7A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC7A6: view

Pathways & Interactions for SLC7A6 Gene

genes like me logo Genes that share pathways with SLC7A6: view

Gene Ontology (GO) - Biological Process for SLC7A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS 9829974
GO:0006865 amino acid transport TAS --
GO:0015807 L-amino acid transport IBA --
GO:0050900 leukocyte migration TAS --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC7A6: view

No data available for SIGNOR curated interactions for SLC7A6 Gene

Drugs & Compounds for SLC7A6 Gene

Products:

  1. Drug

(4) Drugs for SLC7A6 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Arginine Approved Nutra Full agonist, Agonist 0
Ornithine Approved Nutra Full agonist, Agonist 67

(2) Additional Compounds for SLC7A6 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 SLC7A6: view

Transcripts for SLC7A6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for SLC7A6 Gene

(9) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(16) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SLC7A6 Gene

Solute carrier family 7 (amino acid transporter light chain, y+L system), member 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^
SP1:
SP2: -
SP3: - - - -
SP4:
SP5: - -
SP6: - -
SP7: -
SP8: - -
SP9:
SP10: - - -
SP11: - - -
SP12: - -
SP13: - - - -

ExUns: 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SLC7A6 Gene

GeneLoc Exon Structure for
SLC7A6
ECgene alternative splicing isoforms for
SLC7A6

Expression for SLC7A6 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for SLC7A6 Gene

mRNA expression in normal human tissues for SLC7A6 Gene
mRNA expression by BioGPS for SLC7A6 GenemRNA expression by GTEx for SLC7A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A6 Gene

This gene is overexpressed in Muscle - Skeletal (x9.2).

Protein differential expression in normal tissues from HIPED for SLC7A6 Gene

This gene is overexpressed in Placenta (57.2) and Bone (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC7A6 Gene



SOURCE GeneReport for Unigene cluster for SLC7A6 Gene Hs.679580

mRNA Expression by UniProt/SwissProt for SLC7A6 Gene

Q92536-YLAT2_HUMAN
Tissue specificity: Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, RPE cells, and various carcinoma cell lines.
genes like me logo Genes that share expression patterns with SLC7A6: view

Protein tissue co-expression partners for SLC7A6 Gene

- Elite partner

Primer Products

Orthologs for SLC7A6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC7A6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia SLC7A6 35
  • 89.97 (n)
  • 89.9 (a)
SLC7A6 36
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia SLC7A6 35
  • 91.18 (n)
  • 90.86 (a)
SLC7A6 36
  • 91 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Slc7a6 35
  • 89.32 (n)
  • 89.13 (a)
Slc7a6 16
Slc7a6 36
  • 89 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia SLC7A6 35
  • 99.74 (n)
  • 100 (a)
SLC7A6 36
  • 100 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Slc7a6 35
  • 89.26 (n)
  • 89.51 (a)
oppossum
(Monodelphis domestica)
 Mammalia SLC7A6 36
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SLC7A6 36
  • 77 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SLC7A6 35
  • 72.18 (n)
  • 80.2 (a)
SLC7A6 36
  • 77 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SLC7A6 36
  • 78 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia slc7a6 35
  • 68.47 (n)
  • 73.9 (a)
zebrafish
(Danio rerio)
 Actinopterygii Dr.18441 35
slc7a6 35
  • 72.44 (n)
  • 78.63 (a)
slc7a6 36
  • 76 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG6070 37
  • 44 (a)
JhI-21 37
  • 48 (a)
mnd 37
  • 54 (a)
CG1607 35
  • 57.19 (n)
  • 48.67 (a)
gb 36
  • 42 (a)
 ManyToMany
JhI-21 36
  • 44 (a)
 ManyToMany
mnd 36
  • 48 (a)
 ManyToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001627 35
  • 55.29 (n)
  • 50.66 (a)
worm
(Caenorhabditis elegans)
 Secernentea C55C2.5a 37
  • 33 (a)
C55C2.5b 37
  • 33 (a)
F07C3.7 37
  • 44 (a)
F27C8.1 37
  • 45 (a)
F28F9.4 37
  • 28 (a)
F52H2.2 37
  • 46 (a)
F54D12.3 37
  • 32 (a)
T11F9.4 37
  • 33 (a)
T13A10.10 37
  • 35 (a)
Y53H1C.1 37
  • 35 (a)
aat-1 35
  • 51.95 (n)
  • 46.65 (a)
aat-2 36
  • 45 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4067 35
bread mold
(Neurospora crassa)
 Ascomycetes NCU03815 35
  • 49.11 (n)
  • 38.67 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 36
  • 54 (a)
 OneToMany
Species with no ortholog for SLC7A6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 SLC7A6 Gene

ENSEMBL:
Gene Tree for SLC7A6 (if available)
TreeFam:
Gene Tree for SLC7A6 (if available)

Paralogs for SLC7A6 Gene

Paralogs for SLC7A6 Gene

(14) SIMAP similar genes for SLC7A6 Gene using alignment to 12 proteins:

Pseudogenes.org Pseudogenes for SLC7A6 Gene

genes like me logo Genes that share paralogs with SLC7A6: view

Variants for SLC7A6 Gene

Sequence variations from dbSNP and Humsavar for SLC7A6 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs13645 -- 68,298,504(+) TACAC(C/T)TGGAG nc-transcript-variant, utr-variant-3-prime
rs3961283 -- 68,283,733(-) ACCCA(C/T)GTGAG intron-variant
rs8063254 -- 68,280,252(+) AATTG(A/G)GGCAT intron-variant
rs9708734 -- 68,277,948(+) ttatt(A/T)ttCtt intron-variant
rs9745841 -- 68,291,847(+) TTTGT(A/G)TGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A6 Gene

Variant ID Type Subtype PubMed ID
nsv510691 CNV Loss 20534489
esv2675923 CNV Deletion 23128226

Variation tolerance for SLC7A6 Gene

Residual Variation Intolerance Score: 46.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.87% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A6 Gene

HapMap Linkage Disequilibrium report
SLC7A6
Human Gene Mutation Database (HGMD)
SLC7A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A6 Gene

Disorders for SLC7A6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC7A6 Gene - From: DISEASES, Novoseek, and GeneCards

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

Relevant External Links for SLC7A6

Genetic Association Database (GAD)
SLC7A6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A6
genes like me logo Genes that share disorders with SLC7A6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC7A6 Gene

Publications for SLC7A6 Gene

  1. Human metabolic individuality in biomedical and pharmaceutical research. (PMID: 21886157) Suhre K. … Gieger C. (Nature 2011) 3 48 67
  2. Amino acid transport of y+L-type by heterodimers of 4F2hc/CD98 and members of the glycoprotein-associated amino acid transporter family. (PMID: 9878049) Pfeiffer R. … Verrey F. (EMBO J. 1999) 2 3
  3. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  5. Targeting amino acid transport in metastatic castration-resistant prostate cancer: effects on cell cycle, cell growth, and tumor development. (PMID: 24052624) Wang Q. … Holst J. (J. Natl. Cancer Inst. 2013) 3

Products for SLC7A6 Gene

Sources for SLC7A6 Gene

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