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Aliases for SLC7A7 Gene

Aliases for SLC7A7 Gene

  • Solute Carrier Family 7 Member 7 2 3 4
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L System), Member 7 2 3 5
  • Y(+)L-Type Amino Acid Transporter 1 3 4
  • Monocyte Amino Acid Permease 2 3 4
  • Y+LAT-1 3 4
  • Y+LAT1 3 4
  • MOP-2 3 4
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 7 3
  • LAT3 3
  • LPI 3

External Ids for SLC7A7 Gene

Previous HGNC Symbols for SLC7A7 Gene

  • LPI

Previous GeneCards Identifiers for SLC7A7 Gene

  • GC14M020614
  • GC14M017029
  • GC14M021232
  • GC14M022312
  • GC14M023242
  • GC14M003359

Summaries for SLC7A7 Gene

Entrez Gene Summary for SLC7A7 Gene

  • The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

GeneCards Summary for SLC7A7 Gene

SLC7A7 (Solute Carrier Family 7 Member 7) is a Protein Coding gene. Diseases associated with SLC7A7 include lysinuric protein intolerance and orotic aciduria. Among its related pathways are Platelet activation, signaling and aggregation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 SLC7A7 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. 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.

Gene Wiki entry for SLC7A7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A7 Gene

Genomics for SLC7A7 Gene

Regulatory Elements for SLC7A7 Gene

Promoters for SLC7A7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC7A7 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC7A7 Gene

Chromosome:
14
Start:
22,773,222 bp from pter
End:
22,829,820 bp from pter
Size:
56,599 bases
Orientation:
Minus strand

Genomic View for SLC7A7 Gene

Genes around SLC7A7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A7 Gene

Proteins for SLC7A7 Gene

  • Protein details for SLC7A7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM01-YLAT1_HUMAN
    Recommended name:
    Y+L amino acid transporter 1
    Protein Accession:
    Q9UM01
    Secondary Accessions:
    • B2RAU0
    • D3DS26
    • O95984
    • Q53XC1
    • Q86U07
    • Q9P2V5

    Protein attributes for SLC7A7 Gene

    Size:
    511 amino acids
    Molecular mass:
    55991 Da
    Quaternary structure:
    • Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
    SequenceCaution:
    • Sequence=BAA95120.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD62619.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC7A7 Gene

Proteomics data for SLC7A7 Gene at MOPED

Post-translational modifications for SLC7A7 Gene

  • Glycosylation at Asn 325
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for SLC7A7 Gene

Domains & Families for SLC7A7 Gene

Gene Families for SLC7A7 Gene

Protein Domains for SLC7A7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC7A7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM01

UniProtKB/Swiss-Prot:

YLAT1_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 SLC7A7: view

Function for SLC7A7 Gene

Molecular function for SLC7A7 Gene

GENATLAS Biochemistry:
solute carrier family 7,member 7,expressed in kidney,peripheral leukocytes,lung,placenta,spleen,small intestine,heterodimerizing with the heavy chain 4F2hc,CD98 to form a complex of approximatly 135kDa,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=31.7 uM for L-leucine (in the presence of 0.1 M NaCl) {ECO:0000269 PubMed:9878049}; KM=16.2 uM for L-leucine (in the presence of 0.1 M LiCl) {ECO:0000269 PubMed:9878049};
UniProtKB/Swiss-Prot EnzymeRegulation:
Arginine transport is inhibited by protein kinase C (PKC) and treatment with phorbol-12-myristate-13-acetate (PMA).
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. 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.
UniProtKB/Swiss-Prot Induction:
Expression is stimulated and enhanced by IFNG/IFN-gamma.
genes like me logo Genes that share phenotypes with SLC7A7: view

Human Phenotype Ontology for SLC7A7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC7A7

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC7A7 Gene

Localization for SLC7A7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A7 Gene

Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC7A7 Gene COMPARTMENTS Subcellular localization image for SLC7A7 gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for SLC7A7 Gene

Pathways & Interactions for SLC7A7 Gene

genes like me logo Genes that share pathways with SLC7A7: view

Gene Ontology (GO) - Biological Process for SLC7A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000821 regulation of arginine metabolic process IBA --
GO:0006810 transport TAS 9829974
GO:0006865 amino acid transport TAS --
GO:0015807 L-amino acid transport IBA --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with SLC7A7: view

No data available for SIGNOR curated interactions for SLC7A7 Gene

Drugs & Compounds for SLC7A7 Gene

(5) Drugs for SLC7A7 Gene - From: DrugBank, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Arginine Approved Nutra Full agonist, Agonist 0
agmatine Experimental, Investigational Pharma Activator, Transporter, substrate 0

(1) Additional Compounds for SLC7A7 Gene - From: HMDB

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 SLC7A7: view

Transcripts for SLC7A7 Gene

Unigene Clusters for SLC7A7 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A7 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8 ^ 9a · 9b · 9c ^ 10
SP1: - - - - - - -
SP2: -
SP3: -
SP4: - - - - - - -
SP5: - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9: -
SP10:

Relevant External Links for SLC7A7 Gene

GeneLoc Exon Structure for
SLC7A7
ECgene alternative splicing isoforms for
SLC7A7

Expression for SLC7A7 Gene

mRNA expression in normal human tissues for SLC7A7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A7 Gene

This gene is overexpressed in Whole Blood (x15.8), Kidney - Cortex (x7.2), and Spleen (x5.0).

Protein differential expression in normal tissues from HIPED for SLC7A7 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC7A7 Gene



SOURCE GeneReport for Unigene cluster for SLC7A7 Gene Hs.513147

mRNA Expression by UniProt/SwissProt for SLC7A7 Gene

Q9UM01-YLAT1_HUMAN
Tissue specificity: Highest expression in kidney and peripheral blood leukocytes. Weaker expression is observed in lung, heart, placenta, spleen, testis and small intestine. Expressed in normal fibroblasts and those from LPI patients. Also expressed in HUVECs, monocytes, retinal pigment epithelial cells, and various carcinoma cell lines, with highest expression in a colon-carcinoma cell line.
genes like me logo Genes that share expression patterns with SLC7A7: view

Protein tissue co-expression partners for SLC7A7 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for SLC7A7 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC7A7 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC7A7 35
  • 89.5 (n)
  • 90.41 (a)
SLC7A7 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A7 35
  • 88.8 (n)
  • 87.62 (a)
SLC7A7 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a7 35
  • 88.15 (n)
  • 90.57 (a)
Slc7a7 16
Slc7a7 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC7A7 35
  • 99.54 (n)
  • 100 (a)
SLC7A7 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a7 35
  • 88.34 (n)
  • 91.75 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC7A7 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A7 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A7 35
  • 65.69 (n)
  • 67.23 (a)
-- 36
  • 62 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SLC7A7 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75794 35
slc7a7 35
  • 70.69 (n)
  • 80.4 (a)
zebrafish
(Danio rerio)
Actinopterygii slc7a7 35
  • 70.71 (n)
  • 76.34 (a)
slc7a7 36
  • 74 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.715 35
fruit fly
(Drosophila melanogaster)
Insecta CG6070 37
  • 42 (a)
JhI-21 37
  • 45 (a)
mnd 37
  • 52 (a)
mnd 35
  • 56.17 (n)
  • 52.77 (a)
gb 36
  • 40 (a)
ManyToMany
JhI-21 36
  • 44 (a)
ManyToMany
mnd 36
  • 47 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011386 35
  • 53.91 (n)
  • 49.03 (a)
worm
(Caenorhabditis elegans)
Secernentea C55C2.5a 37
  • 32 (a)
C55C2.5b 37
  • 32 (a)
F07C3.7 37
  • 44 (a)
F27C8.1 37
  • 44 (a)
F28F9.4 37
  • 30 (a)
F52H2.2 37
  • 43 (a)
F54D12.3 37
  • 30 (a)
T11F9.4 37
  • 36 (a)
T13A10.10 37
  • 33 (a)
Y53H1C.1 37
  • 33 (a)
aat-2 35
  • 51.79 (n)
  • 47.47 (a)
aat-2 36
  • 45 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 54 (a)
OneToMany
Species with no ortholog for SLC7A7:
  • 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)
  • 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)
  • 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 SLC7A7 Gene

ENSEMBL:
Gene Tree for SLC7A7 (if available)
TreeFam:
Gene Tree for SLC7A7 (if available)

Paralogs for SLC7A7 Gene

Paralogs for SLC7A7 Gene

Pseudogenes.org Pseudogenes for SLC7A7 Gene

genes like me logo Genes that share paralogs with SLC7A7: view

Variants for SLC7A7 Gene

Sequence variations from dbSNP and Humsavar for SLC7A7 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_010261 Lysinuric protein intolerance (LPI)
VAR_010262 Lysinuric protein intolerance (LPI)
VAR_010999 Lysinuric protein intolerance (LPI)
VAR_011000 Lysinuric protein intolerance (LPI)
VAR_030595 Lysinuric protein intolerance (LPI)

Structural Variations from Database of Genomic Variants (DGV) for SLC7A7 Gene

Variant ID Type Subtype PubMed ID
dgv127n21 CNV Gain 19592680
nsv819358 CNV Loss 19587683
nsv519176 CNV Loss 19592680
nsv522410 CNV Loss 19592680

Variation tolerance for SLC7A7 Gene

Residual Variation Intolerance Score: 33.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.57; 30.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A7 Gene

HapMap Linkage Disequilibrium report
SLC7A7
Human Gene Mutation Database (HGMD)
SLC7A7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A7 Gene

Disorders for SLC7A7 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC7A7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • dibasic amino aciduria ii
orotic aciduria
  • orotic aciduria type 1
cystinuria
  • csnu
pyrimidine metabolic disorder
  • pyrimidine metabolism disorder
amino acid metabolic disorder
  • inborn errors of amino acid metabolism
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

YLAT1_HUMAN
  • Lysinuric protein intolerance (LPI) [MIM:222700]: A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. {ECO:0000269 PubMed:10080182, ECO:0000269 PubMed:10631139, ECO:0000269 PubMed:10655553, ECO:0000269 PubMed:12402335, ECO:0000269 PubMed:15776427, ECO:0000269 PubMed:17764084, ECO:0000269 PubMed:9829974}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC7A7

Genetic Association Database (GAD)
SLC7A7
Human Genome Epidemiology (HuGE) Navigator
SLC7A7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A7
genes like me logo Genes that share disorders with SLC7A7: view

No data available for Genatlas for SLC7A7 Gene

Publications for SLC7A7 Gene

  1. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. (PMID: 9829974) Torrents D. … Palacin M. (J. Biol. Chem. 1998) 2 3 4 23 67
  2. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat. (PMID: 18716612) Font-LlitjA^s M. … Nunes V. (Eur. J. Hum. Genet. 2009) 3 23
  3. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (PMID: 17764084) Sperandeo M.P. … Sebastio G. (Hum. Mutat. 2008) 3 23
  4. First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis. (PMID: 17666782) Cimbalistiene L. … Kucinskas V. (J. Appl. Genet. 2007) 3 23
  5. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7. (PMID: 17196863) Puomila K. … MykkAonen J. (Mol. Genet. Metab. 2007) 3 23

Products for SLC7A7 Gene

Sources for SLC7A7 Gene

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