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

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; 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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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].
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.
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.
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.
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.
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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35783 (e-PCR)
- UniSTS:31533

G35664 (e-PCR)
- UniSTS:30015

G35515 (e-PCR)
- UniSTS:79962

G35496 (e-PCR)
- UniSTS:38024

G36098 (e-PCR)
- UniSTS:30929

G35854 (e-PCR)
- UniSTS:53484

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

NG_012851.2 RefSeqGene

Range

15010..61599

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_695

mRNA and Protein(s)

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
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
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