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SLC7A7 solute carrier family 7 member 7 [ Homo sapiens (human) ]

Gene ID: 9056, updated on 22-Jan-2020

Summary

Official Symbol
SLC7A7provided by HGNC
Official Full Name
solute carrier family 7 member 7provided by HGNC
Primary source
HGNC:HGNC:11065
See related
Ensembl:ENSG00000155465 MIM:603593
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LPI; LAT3; MOP-2; Y+LAT1; y+LAT-1
Summary
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]
Expression
Biased expression in kidney (RPKM 96.7), small intestine (RPKM 45.3) and 11 other tissues See more
Orthologs

Genomic context

See SLC7A7 in Genome Data Viewer
Location:
14q11.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (22773222..22819796, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23242431..23289020, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370404 Neighboring gene von Willebrand factor A domain containing 5B2 pseudogene Neighboring gene OXA1L mitochondrial inner membrane protein Neighboring gene mitochondrial ribosomal protein L52 Neighboring gene matrix metallopeptidase 14

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 PubChem

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 
basic amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
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 TAS
Traceable Author Statement
more info
 
basic amino acid transmembrane transport TAS
Traceable Author Statement
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
regulation of arginine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
Y+L amino acid transporter 1
Names
monocyte amino acid permease 2
solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
y(+)L-type amino acid transporter 1

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.

Genomic

  1. NG_012851.2 RefSeqGene

    Range
    15010..61599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_695

mRNA and Protein(s)

  1. NM_001126105.3NP_001119577.1  Y+L amino acid transporter 1

    See identical proteins and their annotated locations for NP_001119577.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC003062, BX161519, DB170842
    Consensus CDS
    CCDS9574.1
    UniProtKB/Swiss-Prot
    Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502
    Related
    ENSP00000380662.4, ENST00000397528.8
    Conserved Domains (1) summary
    cl26159
    Location:20493
    AA_permease_2; Amino acid permease
  2. NM_001126106.4NP_001119578.1  Y+L amino acid transporter 1

    See identical proteins and their annotated locations for NP_001119578.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AL135998
    Consensus CDS
    CCDS9574.1
    UniProtKB/Swiss-Prot
    Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502
    Related
    ENSP00000451881.1, ENST00000555702.5
    Conserved Domains (1) summary
    cl26159
    Location:20493
    AA_permease_2; Amino acid permease
  3. NM_003982.4NP_003973.3  Y+L amino acid transporter 1

    Status: REVIEWED

    Source sequence(s)
    BX161519, DA044956, Y18474
    Related
    ENSP00000380666.3, ENST00000397532.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    22773222..22819796 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537299.1XP_011535601.1  Y+L amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_011535601.1

    UniProtKB/Swiss-Prot
    Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502
    Related
    ENSP00000380663.2, ENST00000397529.6
    Conserved Domains (1) summary
    cl26159
    Location:20493
    AA_permease_2; Amino acid permease
  2. XM_006720302.2XP_006720365.1  Y+L amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_006720365.1

    UniProtKB/Swiss-Prot
    Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502
    Related
    ENSP00000285850.7, ENST00000285850.11
    Conserved Domains (1) summary
    cl26159
    Location:20493
    AA_permease_2; Amino acid permease
  3. XM_011537298.3XP_011535600.1  Y+L amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_011535600.1

    UniProtKB/Swiss-Prot
    Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502
    Conserved Domains (1) summary
    cl26159
    Location:20493
    AA_permease_2; Amino acid permease
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