Human Gene SLC7A5 (ENST00000261622.5_8) from GENCODE V47lift37
  Description: solute carrier family 7 member 5 (from RefSeq NM_003486.7)
Gencode Transcript: ENST00000261622.5_8
Gencode Gene: ENSG00000103257.10_10
Transcript (Including UTRs)
   Position: hg19 chr16:87,863,629-87,903,113 Size: 39,485 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr16:87,866,576-87,903,028 Size: 36,453 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:87,863,629-87,903,113)mRNA (may differ from genome)Protein (507 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LAT1_HUMAN
DESCRIPTION: RecName: Full=Large neutral amino acids transporter small subunit 1; AltName: Full=4F2 light chain; Short=4F2 LC; Short=4F2LC; AltName: Full=CD98 light chain; AltName: Full=Integral membrane protein E16; AltName: Full=L-type amino acid transporter 1; Short=hLAT1; AltName: Full=Solute carrier family 7 member 5; AltName: Full=y+ system cationic amino acid transporter;
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.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=7.9 uM for T4 (in the presence of choline chloride); KM=0.8 uM for T3 (in the presence of choline chloride); KM=12.5 uM for reverse triiodothyronine (rT3) (in the presence of choline chloride); KM=7.9 uM for 3,3'-diiodothyronine (in the presence of choline chloride); KM=46 uM for leucine (in the presence of choline chloride); KM=19 uM for tryptophan (in the presence of choline chloride); KM=32 uM for L-leucine; KM=10 mM for L-alanine; KM=2.2 mM for L-glutamine; KM=35 uM for L-histidine; KM=740 uM for L-phenylalanine; KM=98 uM for MeHg-L-cysteine; KM=99 uM for methionine; KM=55.2 uM for phenylalanine (in T24 human bladder carcinoma cells); KM=60.4 uM for tyrosine (in T24 human bladder carcinoma cells); KM=16.4 uM for tyrosine (in human fibroblasts); KM=138 uM for Dopa (in T24 human bladder carcinoma cells); KM=96.5 uM for 3-O-methyldopa (in T24 human bladder carcinoma cells); KM=153 uM for alpha-methyltyrosine (in T24 human bladder carcinoma cells); KM=216 uM for alpha-methyldopa (in T24 human bladder carcinoma cells); KM=191 uM for gabapentin (in T24 human bladder carcinoma cells); KM=7.3 uM for triiodothyronine (in T24 human bladder carcinoma cells); KM=162 uM for thyroxine (in T24 human bladder carcinoma cells); KM=75.3 uM for melphanan (in T24 human bladder carcinoma cells); KM=156 uM for BCH (in T24 human bladder carcinoma cells);
SUBUNIT: Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc.
SUBCELLULAR LOCATION: 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).
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.
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.
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).
SIMILARITY: Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SLC7A5
Diseases sorted by gene-association score: lysinuric protein intolerance (19), phenylketonuria (10), gestational choriocarcinoma (8), oral cancer (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.41 RPKM in Testis
Total median expression: 728.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.6085-0.536 Picture PostScript Text
3' UTR -1251.402947-0.425 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002293 - AA/rel_permease1
IPR004760 - L_AA_transporter

Pfam Domains:
PF00324 - Amino acid permease
PF13520 - Amino acid permease

ModBase Predicted Comparative 3D Structure on Q01650
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015171 amino acid transmembrane transporter activity
GO:0015175 neutral amino acid transmembrane transporter activity
GO:0015179 L-amino acid transmembrane transporter activity
GO:0015297 antiporter activity
GO:0022857 transmembrane transporter activity
GO:0042605 peptide antigen binding

Biological Process:
GO:0003333 amino acid transmembrane transport
GO:0006520 cellular amino acid metabolic process
GO:0006865 amino acid transport
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0015804 neutral amino acid transport
GO:0015807 L-amino acid transport
GO:0030154 cell differentiation
GO:0050900 leukocyte migration
GO:0055085 transmembrane transport
GO:1902475 L-alpha-amino acid transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC014177 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 5, mRNA (cDNA clone IMAGE:4580018).
M80244 - Human E16 mRNA, complete cds.
AB018009 - Homo sapiens mRNA for L-type amino acid transporter 1, complete cds.
AF104032 - Homo sapiens L-type amino acid transporter subunit LAT1 mRNA, complete cds.
LF385446 - JP 2014500723-A/192949: Polycomb-Associated Non-Coding RNAs.
LP895334 - Sequence 198 from Patent EP3253886.
BC042600 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 5, mRNA (cDNA clone MGC:25028 IMAGE:4470593), complete cds.
JD270086 - Sequence 251110 from Patent EP1572962.
JD079028 - Sequence 60052 from Patent EP1572962.
JD233837 - Sequence 214861 from Patent EP1572962.
JD297415 - Sequence 278439 from Patent EP1572962.
JD389450 - Sequence 370474 from Patent EP1572962.
JD273464 - Sequence 254488 from Patent EP1572962.
JD400272 - Sequence 381296 from Patent EP1572962.
JD397625 - Sequence 378649 from Patent EP1572962.
JD222341 - Sequence 203365 from Patent EP1572962.
JD199161 - Sequence 180185 from Patent EP1572962.
JD123431 - Sequence 104455 from Patent EP1572962.
JD283888 - Sequence 264912 from Patent EP1572962.
JD427789 - Sequence 408813 from Patent EP1572962.
JD546505 - Sequence 527529 from Patent EP1572962.
JD025380 - Sequence 6404 from Patent EP1572962.
JD027773 - Sequence 8797 from Patent EP1572962.
JD458786 - Sequence 439810 from Patent EP1572962.
JD355745 - Sequence 336769 from Patent EP1572962.
BC114608 - Homo sapiens cDNA clone IMAGE:40019297.
JD424029 - Sequence 405053 from Patent EP1572962.
JD500959 - Sequence 481983 from Patent EP1572962.
JD452250 - Sequence 433274 from Patent EP1572962.
JD473983 - Sequence 455007 from Patent EP1572962.
JD074578 - Sequence 55602 from Patent EP1572962.
JD519767 - Sequence 500791 from Patent EP1572962.
JD123379 - Sequence 104403 from Patent EP1572962.
JD329562 - Sequence 310586 from Patent EP1572962.
JD096073 - Sequence 77097 from Patent EP1572962.
JD208353 - Sequence 189377 from Patent EP1572962.
JD427902 - Sequence 408926 from Patent EP1572962.
JD364765 - Sequence 345789 from Patent EP1572962.
JD138702 - Sequence 119726 from Patent EP1572962.
JD476018 - Sequence 457042 from Patent EP1572962.
JD470038 - Sequence 451062 from Patent EP1572962.
JD104298 - Sequence 85322 from Patent EP1572962.
JD196363 - Sequence 177387 from Patent EP1572962.
JD357547 - Sequence 338571 from Patent EP1572962.
JD473787 - Sequence 454811 from Patent EP1572962.
JD482969 - Sequence 463993 from Patent EP1572962.
JD310274 - Sequence 291298 from Patent EP1572962.
JD059216 - Sequence 40240 from Patent EP1572962.
JD541721 - Sequence 522745 from Patent EP1572962.
JD271481 - Sequence 252505 from Patent EP1572962.
JD196247 - Sequence 177271 from Patent EP1572962.
JD446697 - Sequence 427721 from Patent EP1572962.
JD394110 - Sequence 375134 from Patent EP1572962.
JD515140 - Sequence 496164 from Patent EP1572962.
DL492413 - Novel nucleic acids.
JD361266 - Sequence 342290 from Patent EP1572962.
JD423489 - Sequence 404513 from Patent EP1572962.
JD063838 - Sequence 44862 from Patent EP1572962.
JD234965 - Sequence 215989 from Patent EP1572962.
DL490893 - Novel nucleic acids.
JD321852 - Sequence 302876 from Patent EP1572962.
JD130760 - Sequence 111784 from Patent EP1572962.
JD466694 - Sequence 447718 from Patent EP1572962.
JD381401 - Sequence 362425 from Patent EP1572962.
JD273077 - Sequence 254101 from Patent EP1572962.
JD253655 - Sequence 234679 from Patent EP1572962.
JD049488 - Sequence 30512 from Patent EP1572962.
JD515837 - Sequence 496861 from Patent EP1572962.
JD402120 - Sequence 383144 from Patent EP1572962.
JD560238 - Sequence 541262 from Patent EP1572962.
JD291268 - Sequence 272292 from Patent EP1572962.
JD142111 - Sequence 123135 from Patent EP1572962.
JD222078 - Sequence 203102 from Patent EP1572962.
JD386040 - Sequence 367064 from Patent EP1572962.
JD364969 - Sequence 345993 from Patent EP1572962.
JD201541 - Sequence 182565 from Patent EP1572962.
JD268309 - Sequence 249333 from Patent EP1572962.
JD231480 - Sequence 212504 from Patent EP1572962.
JD482230 - Sequence 463254 from Patent EP1572962.
JD552210 - Sequence 533234 from Patent EP1572962.
JD132090 - Sequence 113114 from Patent EP1572962.
JD071399 - Sequence 52423 from Patent EP1572962.
JD404251 - Sequence 385275 from Patent EP1572962.
JD526043 - Sequence 507067 from Patent EP1572962.
JD521773 - Sequence 502797 from Patent EP1572962.
JD438368 - Sequence 419392 from Patent EP1572962.
AB018542 - Homo sapiens mRNA for CD98 light chain, complete cds.
JD171664 - Sequence 152688 from Patent EP1572962.
AB017908 - Homo sapiens mRNA for 4F2 light chain, complete cds.
JD339762 - Sequence 320786 from Patent EP1572962.
AF077866 - Homo sapiens amino acid transporter E16 mRNA, complete cds.
JD124562 - Sequence 105586 from Patent EP1572962.
E41390 - Amino acid transporting protein and gene thereof.
HV815687 - JP 2011083284-A/22: Amino Acid Transporter And Gene Thereof.
HV815710 - JP 2011084564-A/22: Amino Acid Transporter And Gene Thereof.
DQ893338 - Synthetic construct clone IMAGE:100005968; FLH196370.01X; RZPDo839C06156D solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 (SLC7A5) gene, encodes complete protein.
DQ896766 - Synthetic construct Homo sapiens clone IMAGE:100011226; FLH196366.01L; RZPDo839C06155D solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 (SLC7A5) gene, encodes complete protein.
AB590343 - Synthetic construct DNA, clone: pFN21AE1478, Homo sapiens SLC7A5 gene for solute carrier family 7 (cationic amino acid transporter, y+ system), member 5, without stop codon, in Flexi system.
DL492614 - Novel nucleic acids.
JD406519 - Sequence 387543 from Patent EP1572962.
JD479048 - Sequence 460072 from Patent EP1572962.
JD407769 - Sequence 388793 from Patent EP1572962.
JD164431 - Sequence 145455 from Patent EP1572962.
DL492028 - Novel nucleic acids.
DL490580 - Novel nucleic acids.
JD462740 - Sequence 443764 from Patent EP1572962.
JD407246 - Sequence 388270 from Patent EP1572962.
MA621023 - JP 2018138019-A/192949: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q01650 (Reactome details) participates in the following event(s):

R-HSA-375131 Basigin binds CD98 complex
R-HSA-352232 Metabolism of nitrogenous molecules
R-HSA-210991 Basigin interactions
R-HSA-71240 Tryptophan catabolism
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-6788656 Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism
R-HSA-425374 Amino acid and oligopeptide SLC transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-109582 Hemostasis
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-1430728 Metabolism
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: CD98LC, ENST00000261622.1, ENST00000261622.2, ENST00000261622.3, ENST00000261622.4, LAT1 , LAT1_HUMAN, MPE16, NM_003486, Q01650, Q8IV97, Q9UBN8, Q9UP15, Q9UQC0, uc317grt.1, uc317grt.2
UCSC ID: ENST00000261622.5_8
RefSeq Accession: NM_003486.7
Protein: Q01650 (aka LAT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.