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SLC7A8 solute carrier family 7 member 8 [ Homo sapiens (human) ]

Gene ID: 23428, updated on 12-Oct-2019

Summary

Official Symbol
SLC7A8provided by HGNC
Official Full Name
solute carrier family 7 member 8provided by HGNC
Primary source
HGNC:HGNC:11066
See related
Ensembl:ENSG00000092068 MIM:604235
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAT2; LPI-PC1
Annotation information
Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
Expression
Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues See more
Orthologs

Genomic context

See SLC7A8 in Genome Data Viewer
Location:
14q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23125295..23183660, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23594504..23652869, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984665 Neighboring gene chromosome 14 open reading frame 119 Neighboring gene leishmanolysin like peptidase 2 Neighboring gene CCAAT enhancer binding protein epsilon Neighboring gene RNA, U6 small nuclear 1138, pseudogene Neighboring gene uncharacterized LOC105370406 Neighboring gene ring finger protein 212B Neighboring gene ribosomal protein L39 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Amino acid transport across the plasma membrane, organism-specific biosystem (from REACTOME)
    Amino acid transport across the plasma membrane, organism-specific biosystemAmino acid transport across plasma membranes is critical to the uptake of these molecules from the gut, to their reabsortion in the kidney proximal tubulues, and to their distribution to cells in whi...
  • Basigin interactions, organism-specific biosystem (from REACTOME)
    Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Protein digestion and absorption, organism-specific biosystem (from KEGG)
    Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • Protein digestion and absorption, conserved biosystem (from KEGG)
    Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity EXP
Inferred from Experiment
more info
PubMed 
amino acid transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
amino acid transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
neutral amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
organic cation transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
peptide antigen binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
toxin transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-alpha-amino acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transport IDA
Inferred from Direct Assay
more info
PubMed 
amino acid transport TAS
Traceable Author Statement
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
metal ion homeostasis NAS
Non-traceable Author Statement
more info
PubMed 
neutral amino acid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutral amino acid transport ISS
Inferred from Sequence or Structural Similarity
more info
 
organic cation transport IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance NAS
Non-traceable Author Statement
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
large neutral amino acids transporter small subunit 2
Names
L-type amino acid transporter 2
integral membrane protein E16H
solute carrier family 7 (amino acid transporter light chain, L system), member 8
solute carrier family 7 (amino acid transporter, L-type), member 8
solute carrier family 7 (cationic amino acid transporter, y+ system), member 8

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001267036.1NP_001253965.1  large neutral amino acids transporter small subunit 2 isoform c

    See identical proteins and their annotated locations for NP_001253965.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB037669, AF135830, AK296702, AL117258, BX248288
    Consensus CDS
    CCDS58305.1
    UniProtKB/Swiss-Prot
    Q9UHI5
    Related
    ENSP00000434345.2, ENST00000529705.6
    Conserved Domains (1) summary
    cl26159
    Location:65392
    AA_permease_2; Amino acid permease
  2. NM_001267037.1NP_001253966.1  large neutral amino acids transporter small subunit 2 isoform d

    See identical proteins and their annotated locations for NP_001253966.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon and lacks an exon in the coding region, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB037669, AF135830, AK300384, BX248288, DC348596
    Consensus CDS
    CCDS58304.1
    UniProtKB/Swiss-Prot
    Q9UHI5
    Related
    ENSP00000416398.2, ENST00000422941.6
    Conserved Domains (1) summary
    cl26159
    Location:39273
    AA_permease_2; Amino acid permease
  3. NM_012244.4NP_036376.2  large neutral amino acids transporter small subunit 2 isoform a

    See identical proteins and their annotated locations for NP_036376.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB037669, AF135830, AK223610, AK313465, AL365343, BX248288
    Consensus CDS
    CCDS9590.1
    UniProtKB/Swiss-Prot
    Q9UHI5
    UniProtKB/TrEMBL
    Q53EM9
    Related
    ENSP00000320378.7, ENST00000316902.12
    Conserved Domains (1) summary
    TIGR00911
    Location:1497
    2A0308; L-type amino acid transporter
  4. NM_182728.3NP_877392.1  large neutral amino acids transporter small subunit 2 isoform b

    See identical proteins and their annotated locations for NP_877392.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AB037669, AF135830, BX248288
    Consensus CDS
    CCDS41924.1
    UniProtKB/Swiss-Prot
    Q9UHI5
    Related
    ENSP00000391577.1, ENST00000453702.5
    Conserved Domains (1) summary
    cl26159
    Location:1294
    AA_permease_2; Amino acid permease

RNA

  1. NR_049767.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB037669, AF135830, AL117258, BC036825, BX248288
    Related
    ENST00000339733.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23125295..23183660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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