SLC7A1: Solute Carrier Family 7 Member 1

Cationic amino acid transporter, y+ system, member of the SLC7 family

Gene Information Card

Symbol SLC7A1
Full Name Solute Carrier Family 7 Member 1
Gene Type protein-coding
Chromosomal Location 13q12.3
NCBI Gene ID 6541 ncbi.nlm.nih.gov/gene/6541
Ensembl ID ENSG00000139514
UniProt ID P30825
OMIM ID 104615
HGNC ID 11057
Aliases CAT-1, ATRC1, ERR, HCAT1, REC1L

Description

SLC7A1 encodes a high-affinity, sodium-independent cationic amino acid transporter (CAT-1) that mediates the uptake of L-arginine, L-lysine, and L-ornithine. It is a member of the solute carrier family 7 and plays a critical role in nitric oxide synthesis, polyamine metabolism, and cellular growth. The transporter is also a receptor for ecotropic murine leukemia virus.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Lysinuric protein intolerance (LPI) Defective transport of cationic amino acids leads to impaired urea cycle and immune dysfunction. PMID: 10447260, OMIM #222700
Cardiovascular disease Altered arginine transport affects nitric oxide production and endothelial function. PMID: 12882987
Cancer (various) Overexpression of SLC7A1 supports tumor growth via arginine uptake and mTOR signaling. PMID: 23563182, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 8.3 Medium
Lung 6.7 Low
Brain 4.2 Low
Heart 3.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 15.2 High expression
HepG2 10.8 Moderate expression
A549 7.5 Low expression
K562 5.0 Low expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.625G>A (p.Gly209Arg) Missense <0.01% Reduced arginine transport activity
c.1132C>T (p.Arg378Cys) Missense <0.01% Impaired substrate binding
c.1543delC Frameshift <0.01% Loss of function
Mutation functional classification

Loss of Function (LOF)

Missense and frameshift mutations that reduce or abolish arginine transport, associated with lysinuric protein intolerance.

Gain of Function (GOF)

Not reported in SLC7A1.

Dominant Negative (DN)

Not reported in SLC7A1.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/6541
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SLC7A1

Gene Ontology (GO)

• amino acid transmembrane transporter activity (GO:0015171) • L-arginine transmembrane transporter activity (GO:0015187)
• L-lysine transmembrane transporter activity (GO:0015189) • plasma membrane (GO:0005886)
• integral component of membrane (GO:0016021) • amino acid transport (GO:0006865)
• arginine catabolic process (GO:0006527)

Pathways

• Arginine and proline metabolism (Reactome: R-HSA-71291)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
• Amino acid transport across the plasma membrane (Reactome: R-HSA-352230)

Protein Summary

SLC7A1 (CAT-1) is a 629-amino acid transmembrane protein with 14 putative membrane-spanning domains. It functions as a high-affinity, sodium-independent transporter for cationic amino acids, particularly L-arginine. The protein is essential for cellular arginine uptake, which is rate-limiting for nitric oxide synthesis and polyamine production. CAT-1 also serves as the receptor for ecotropic murine leukemia virus. Post-translational modifications include N-glycosylation at Asn-229 and Asn-365.

Related Services

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Overexpression Cell Line
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Reporter Cell Line
Knock-in Tag
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Related Products

Product name Cat.No. Species Gene ID
SLC7A1 Knockout HEK293 Cell Line EDJ-KQ5774 Human 6541 Details Get a Quote
SLC7A14 Knockout HEK293 Cell Line EDJ-KQ12230 Human 57709 Details Get a Quote
SLC7A13 Knockout HEK293 Cell Line EDJ-KQ14499 Human 157724 Details Get a Quote
SLC7A10 Knockout HEK293 Cell Line EDJ-KQ15287 Human 56301 Details Get a Quote
SLC7A11 Knockout HEK293 Cell Line EDJ-KQ17899 Human 23657 Details Get a Quote
SLC7A11 Knockout HeLa Cell Line EDJ-KQ18180 Human 23657 Details Get a Quote
SLC7A14 Knockout HeLa Cell Line EDJ-KQ18194 Human 57709 Details Get a Quote
SLC7A1 Knockout A-549 Cell Line EDJ-KQ29189 Human 6541 Details Get a Quote
SLC7A1 Knockout HCT 116 Cell Line EDJ-KQ29190 Human 6541 Details Get a Quote
SLC7A1 Knockout HeLa Cell Line EDJ-KQ29191 Human 6541 Details Get a Quote
SLC7A11 Knockout HCT 116 Cell Line EDJ-KQ18896 Human 23657 Details Get a Quote
SLC7A11 Knockout A-549 Cell Line EDJ-KQ20237 Human 23657 Details Get a Quote
SLC7A10 Knockout HeLa Cell Line EDJ-KQ56732 Human 56301 Details Get a Quote
SLC7A13 Knockout HeLa Cell Line EDJ-KQ58765 Human 157724 Details Get a Quote
SLC7A10 Knockout A-549 Cell Line EDJ-KQ65237 Human 56301 Details Get a Quote
Displaying Records 1 To 15 Of 20 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/6541
OMIM https://www.omim.org/entry/104615
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11057
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000139514
UniProt https://www.uniprot.org/uniprot/P30825
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=SLC7A1%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=SLC7A1
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