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

Gene ID: 9056, updated on 10-Dec-2024

Summary

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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; AllianceGenome:HGNC:11065
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
mouse all
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Genomic context

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See SLC7A7 in Genome Data Viewer
Location:
14q11.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22773222..22819791, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (16971294..17017861, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23242431..23289000, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OXA1L divergent transcript Neighboring gene small nucleolar RNA SNORD41 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23234492-23235055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23235056-23235618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23235619-23236182 Neighboring gene OXA1L mitochondrial inner membrane protein Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23252646-23252816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23283939-23284445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23289156-23289728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5591 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23292150-23292379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23293501-23294397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8144 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23305452-23305668 Neighboring gene mitochondrial ribosomal protein L52 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312200-23312700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312701-23313201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23314693-23315218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23315743-23316266 Neighboring gene matrix metallopeptidase 14

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Lysinuric Protein Intolerance. Adam MP, et al. , 1993. PMID 20301535
  2. Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14. Lauteala T, et al. Am J Hum Genet, 1997 Jun. PMID 9199570, Free PMC Article
  3. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Sperandeo MP, et al. Am J Hum Genet, 2000 Jan. PMID 10631139, Free PMC Article
  4. Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Mykkänen J, et al. Hum Mol Genet, 2000 Feb 12. PMID 10655553
  5. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families. Noguchi A, et al. Hum Mutat, 2000. PMID 10737982

See all (45) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism.
    Title: L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism.
  2. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
    Title: A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
  3. y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
    Title: y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance.
  4. The three mutations studied of y+LAT1 transporter result in a defective arginine transport both in ex vivo (monocytes) and in vitro (CHO transfected cells) models, likely caused by the retention of the mutated proteins in the cytosol
    Title: Analysis of LPI-causing mutations on y+LAT1 function and localization.
  5. SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A
    Title: [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
  6. this study shows that downregulation of SLC7A7 triggers an inflammatory phenotype in human macrophages and airway epithelial cells
    Title: Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
  7. SLC7A7 overexpression decreased the apoptosis rate, increased the proportion of cells in the G1 phase, decreased the proportion of G2 cells, and significantly increased cell migration and invasion and increased intracellular arginine would activate mTOR, and induce apoptosis in SLC7A7 knockdown Jurkat cells.
    Title: Function of SLC7A7 in T-Cell Acute Lymphoblastic Leukemia.
  8. Confirmed by mRNA and protein expression, the amino acid transporters SLC7A7 and SLC38A5 showed marked differences between controls and intrauterine growth restriction/pre-eclampsia and were regulated by both diseases. In contrast, ABCA1 may play an exclusive role in the development of pre-eclempsia.
    Title: Identification of placental nutrient transporters associated with intrauterine growth restriction and pre-eclampsia.
  9. At present, 51 kinds of SLC7A7 gene mutations causing lysinuric protein intolerance have been found worldwide, including insert (C.1384-1385 ins ACTA), delete (C.1185-1188 del TTCT) and point mutations (P.R410X, P.Y457X, P.R 468X, P.L124p, etc).3, 4 In our cases, there were two heterozygous mutations in the SLC7A7 gene of the two sisters: C.1387 del C and IVS4+1C>T, which has never been reported worldwide.
    Title: New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
  10. The study reports a significant association between SLC7A7 rs12436190 and the risk of glioma in a Chinese population.
    Title: Association of three common single nucleotide polymorphisms of SLC7A7 with the development of glioma in a Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Lysinuric protein intolerance
MedGen: C0268647 OMIM: 222700 GeneReviews: Lysinuric Protein Intolerance
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables L-amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables L-arginine transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables basic amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in L-arginine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-leucine transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in basic amino acid transmembrane transport TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of arginine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in basolateral plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
Y+L amino acid transporter 1
Names
lysinuric protein intolerance (dibasicaminoaciduria II)
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)

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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_001126105.3 → NP_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
    B2RAU0, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5, Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502, B4DVT0
    Related
    ENSP00000380662.4, ENST00000397528.8
    Conserved Domains (1) summary
    TIGR00911
    Location:20 → 493
    2A0308; L-type amino acid transporter

  2. NM_001126106.4 → NP_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
    B2RAU0, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5, Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502, B4DVT0
    Related
    ENSP00000451881.1, ENST00000555702.5
    Conserved Domains (1) summary
    TIGR00911
    Location:20 → 493
    2A0308; L-type amino acid transporter

  3. NM_003982.4 → NP_003973.3  Y+L amino acid transporter 1

    Status: REVIEWED

    Source sequence(s)
    BX161519, DA044956, Y18474
    UniProtKB/Swiss-Prot
    B2RAU0, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5, Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502, B4DVT0
    Related
    ENSP00000501493.1, ENST00000674313.1
    Conserved Domains (1) summary
    TIGR00911
    Location:20 → 493
    2A0308; L-type amino acid transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    22773222..22819791 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537299.2 → XP_011535601.1  Y+L amino acid transporter 1 isoform X1

    See identical proteins and their annotated locations for XP_011535601.1

    UniProtKB/Swiss-Prot
    B2RAU0, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5, Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502, B4DVT0
    Related
    ENSP00000380663.2, ENST00000397529.6
    Conserved Domains (1) summary
    TIGR00911
    Location:20 → 493
    2A0308; L-type amino acid transporter

  2. XM_047431879.1 → XP_047287835.1  Y+L amino acid transporter 1 isoform X2

    Related
    ENST00000554061.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    16971294..17017861 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376924.1 → XP_054232899.1  Y+L amino acid transporter 1 isoform X1

    UniProtKB/Swiss-Prot
    B2RAU0, D3DS26, O95984, Q53XC1, Q86U07, Q9P2V5, Q9UM01
    UniProtKB/TrEMBL
    A0A0S2Z502, B4DVT0

  2. XM_054376925.1 → XP_054232900.1  Y+L amino acid transporter 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UM01.2 GenPept UniProtKB/Swiss-Prot:Q9UM01

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