Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SLC7A7 Gene

Aliases for SLC7A7 Gene

  • Solute Carrier Family 7 Member 7 2 3 4 5
  • Solute Carrier Family 7 (Amino Acid Transporter Light Chain, Y+L System), Member 7 2 3
  • 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
  • Y+L Amino Acid Transporter 1 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 Cystinuria. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Collagen chain trimerization. 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 SLC7A6.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A7 Gene

Genomics for SLC7A7 Gene

Regulatory Elements for SLC7A7 Gene

Enhancers for SLC7A7 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
GH14G022817 1.7 FANTOM5 ENCODE dbSUPER 22.4 +8.2 8239 7.8 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 SLC7A7 MRPL52 CDH24 PABPN1 RBM23 C14orf119 ENSG00000258458
GH14G022810 1.6 Ensembl ENCODE dbSUPER 18.3 +16.1 16058 6.7 HNRNPUL1 HDGF PKNOX1 CREB3L1 MLX ARNT WRNIP1 ARID4B SIN3A DMAP1 SLC7A7 THTPA HOMEZ ENSG00000258458
GH14G022504 2.1 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +291.6 291633 66.7 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YBX1 YY1 SLC30A9 ZNF143 MMP14 ABHD4 OXA1L EFS BCL2L2-PABPN1 DAD1 LOC105370399 TRAC C14orf119 OR6J1
GH14G022689 1.6 FANTOM5 Ensembl ENCODE 14.4 +139.2 139220 3.0 HDGF PKNOX1 ARNT GATA2 FOS NCOA1 REST ZNF518A ZNF592 CREB3 OXA1L SLC7A7 OR6J1 MRPL52 MMP14 ENSG00000199716 LRP10 REM2 GC14M022699
GH14G022789 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +38.9 38888 3.7 PKNOX1 ATF1 TBL1XR1 ZFP64 BMI1 FEZF1 THRB GATA2 EGR1 ZNF366 SLC7A7 PSMB5 RBM23 LRP10 ACIN1 C14orf119 ENSG00000258458
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for SLC7A7 Gene

  • Glycosylation at Asn325
  • Modification sites at PhosphoSitePlus

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.

Gene Ontology (GO) - Molecular Function for SLC7A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity IEA --
GO:0015174 basic amino acid transmembrane transporter activity IBA --
GO:0015179 L-amino acid transmembrane transporter activity IBA --
GO:0015297 antiporter activity IBA --
genes like me logo Genes that share ontologies with SLC7A7: view
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
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 SLC7A7 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC7A7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9829974
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with SLC7A7: view

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:0003333 amino acid transmembrane transport IEA --
GO:0006461 protein complex assembly TAS 9829974
GO:0006520 cellular amino acid metabolic process TAS 9829974
GO:0006810 transport TAS 9829974
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, HMDB, and Novoseek

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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SLC7A7 Gene



Protein tissue co-expression partners for SLC7A7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC7A7 Gene:

SLC7A7

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.

Evidence on tissue expression from TISSUES for SLC7A7 Gene

  • Kidney(4.6)
  • Blood(4.3)
  • Intestine(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SLC7A7: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia SLC7A7 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia SLC7A7 34 35
  • 89.5 (n)
dog
(Canis familiaris)
Mammalia SLC7A7 34 35
  • 88.8 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a7 34
  • 88.34 (n)
mouse
(Mus musculus)
Mammalia Slc7a7 34 16 35
  • 88.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC7A7 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A7 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A7 34
  • 65.69 (n)
-- 35
  • 62 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SLC7A7 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a7 34
  • 70.69 (n)
MGC75794 34
zebrafish
(Danio rerio)
Actinopterygii slc7a7 34 35
  • 70.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.715 34
fruit fly
(Drosophila melanogaster)
Insecta mnd 36 34 35
  • 56.17 (n)
JhI-21 36 35
  • 45 (a)
CG6070 36
  • 42 (a)
gb 35
  • 40 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011386 34
  • 53.91 (n)
worm
(Caenorhabditis elegans)
Secernentea aat-2 34 35
  • 51.79 (n)
F07C3.7 36
  • 44 (a)
F27C8.1 36
  • 44 (a)
F52H2.2 36
  • 43 (a)
T11F9.4 36
  • 36 (a)
T13A10.10 36
  • 33 (a)
Y53H1C.1 36
  • 33 (a)
C55C2.5a 36
  • 32 (a)
C55C2.5b 36
  • 32 (a)
F28F9.4 36
  • 30 (a)
F54D12.3 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToMany
Species where no ortholog for SLC7A7 was found in the sources mined by GeneCards:
  • 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
rs121908677 Pathogenic, Lysinuric protein intolerance (LPI) [MIM:222700] 22,813,238(-) CTCGG(G/T)CATCT nc-transcript-variant, reference, missense
rs386833792 Likely pathogenic, Lysinuric protein intolerance (LPI) [MIM:222700] 22,813,385(-) CAGCA(C/T)TGAGT nc-transcript-variant, reference, missense
rs386833793 Likely pathogenic, Lysinuric protein intolerance (LPI) [MIM:222700] 22,813,241(-) CGGCT(C/T)GGGCA nc-transcript-variant, reference, missense
rs386833795 Likely pathogenic, Lysinuric protein intolerance (LPI) [MIM:222700] 22,775,526(-) TGTGG(A/G)CTCAA nc-transcript-variant, reference, missense
rs386833797 Likely pathogenic, Lysinuric protein intolerance (LPI) [MIM:222700] 22,775,446(-) TCTTC(A/T)ATGTA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv127n21 CNV gain 19592680
dgv1836n100 CNV gain 25217958
esv3551232 CNV deletion 23714750
esv3581073 CNV loss 25503493
esv3633763 CNV gain 21293372
esv3892474 CNV loss 25118596
nsv1138282 CNV deletion 24896259
nsv519176 CNV loss 19592680
nsv522410 CNV loss 19592680
nsv563998 CNV gain 21841781
nsv564039 CNV gain 21841781
nsv819358 CNV loss 19587683

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

Human Gene Mutation Database (HGMD)
SLC7A7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A7

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

Disorders for SLC7A7 Gene

MalaCards: The human disease database

(4) 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
cystinuria
  • csnu
orotic aciduria
  • orotic aciduria type 1
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:15756301, 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 22 64
  2. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. (PMID: 17764084) Sperandeo M.P. … Sebastio G. (Hum. Mutat. 2008) 3 4 22 64
  3. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance. (PMID: 15756301) Sperandeo M.P. … Sebastio G. (Eur. J. Hum. Genet. 2005) 3 4 22 64
  4. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. (PMID: 15776427) Sperandeo M.P. … Sebastio G. (Hum. Mutat. 2005) 3 4 22 64
  5. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance. (PMID: 12402335) Shoji Y. … Takada G. (Hum. Mutat. 2002) 3 4 22 64

Products for SLC7A7 Gene

Sources for SLC7A7 Gene

Content
Loading form....