SLC7A1 solute carrier family 7 member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC7A1provided by HGNC
Official Full Name: solute carrier family 7 member 1provided by HGNC
Primary source: HGNC:HGNC:11057
See related: Ensembl:ENSG00000139514 MIM:104615; AllianceGenome:HGNC:11057
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: ERR; ATRC1; CAT-1; HCAT1; REC1L
Summary: Enables L-arginine transmembrane transporter activity and L-histidine transmembrane transporter activity. Involved in amino acid transport. Located in membrane. Part of apical plasma membrane; basolateral plasma membrane; and protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in esophagus (RPKM 22.4), brain (RPKM 11.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q12.3

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (29509414..29595688, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (28732320..28818340, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (30083551..30169825, complement)

Chromosome 13 - NC_000013.11 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
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?

High total cholesterol and triglycerides levels increase arginases metabolism, impairing nitric oxide signaling and worsening fetoplacental endothelial dysfunction in gestational diabetes mellitus pregnancies.
Title: High total cholesterol and triglycerides levels increase arginases metabolism, impairing nitric oxide signaling and worsening fetoplacental endothelial dysfunction in gestational diabetes mellitus pregnancies.
Human cationic amino acid transporters are not affected by direct nitros(yl)ation.
Title: Human cationic amino acid transporters are not affected by direct nitros(yl)ation.
L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B.
Title: The prognostic biomarker L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B.
Estradiol increases arginine transport and CAT-1 activity through modulation of constitutive signaling transduction pathways involving ERK. Progesterone inhibits arginine transport and CAT-1 via both PKCalpha and ERK1/2 phosphorylation.
Title: Estradiol augments while progesterone inhibits arginine transport in human endothelial cells through modulation of cationic amino acid transporter-1.
The rs41318021 polymorphism in the SLC7A1 gene was not associated with essential hypertension in 50-year-old subjects.
Title: Contribution of SLC7A1 genetic variant to hypertension, the TAMRISK study.
Overexpression of arginine transporter CAT-1 is associated with accumulation of L-arginine and cell growth in human colorectal cancer tissue.
Title: Overexpression of arginine transporter CAT-1 is associated with accumulation of L-arginine and cell growth in human colorectal cancer tissue.
CAT1, CAT2, and CAT3 localized in adult brains but with uneven distribution.
Title: Differential topochemistry of three cationic amino acid transporter proteins, hCAT1, hCAT2 and hCAT3, in the adult human brain.
mRNA levels for high-affinity CAT-1, expressed as a percentage of the wild-type value, are increased by an average 12% and 32% in mdx and transgenic mdx:utr mice respectively.
Title: Nitric oxide signalling pathway in Duchenne muscular dystrophy mice: up-regulation of L-arginine transporters.
The data demonstrates that CAT1 significantly (but most likely not exclusively) contributes to the cellular uptake of asymmetric dimethylarginine.
Title: Interaction of the cardiovascular risk marker asymmetric dimethylarginine (ADMA) with the human cationic amino acid transporter 1 (CAT1).
In hypoxic human pulmonary microvascular endothelial cells, overexpression of CAT-1 resulted in significantly greater L-arginine transport and NO production
Title: Overexpression of cationic amino acid transporter-1 increases nitric oxide production in hypoxic human pulmonary microvascular endothelial cells.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC7A1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-142580 (e-PCR)
- UniSTS:171533

RH71285 (e-PCR)
- UniSTS:30502

G29227 (e-PCR)
- UniSTS:78632

SHGC-83431 (e-PCR)
- UniSTS:101929

SHGC-155278 (e-PCR)
- UniSTS:182074

D13S652E (e-PCR)
- UniSTS:153184

D13S661E (e-PCR)
- UniSTS:153192

STS-AA007155 (e-PCR)
- UniSTS:50864

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables L-arginine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-arginine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-arginine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables L-arginine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables L-histidine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-lysine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-lysine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ornithine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables L-ornithine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables basic amino acid transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables basic amino acid transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-amino acid transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-arginine import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-arginine import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in L-arginine transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in L-arginine transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in L-histidine import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in L-lysine transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in L-ornithine transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-ornithine transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in amino acid import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in amino acid transport	TAS Traceable Author Statement more info
involved_in lysine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in ornithine transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of positive regulation of T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basal plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in basolateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: high affinity cationic amino acid transporter 1

Names: CAT1; amino acid transporter, cationic 1; ecotropic retroviral leukemia receptor homolog; ecotropic retroviral receptor; ecotropic retrovirus receptor homolog; solute carrier family 7 (cationic amino acid transporter, y+ system), member 1; system Y+ basic amino acid transporter

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.

mRNA and Protein(s)

NM_003045.5 → NP_003036.1 high affinity cationic amino acid transporter 1

See identical proteins and their annotated locations for NP_003036.1

Status: VALIDATED

Source sequence(s)

AL596114

Consensus CDS

CCDS9333.1

UniProtKB/Swiss-Prot

P30825, Q5JR50

UniProtKB/TrEMBL

B2R728

Related

ENSP00000370128.5, ENST00000380752.10

Conserved Domains (1) summary

TIGR00906
Location:4 → 610

2A0303; cationic amino acid transport permease

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

29509414..29595688 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430551.1 → XP_047286507.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50
XM_047430550.1 → XP_047286506.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50
XM_005266507.4 → XP_005266564.1 high affinity cationic amino acid transporter 1 isoform X1

See identical proteins and their annotated locations for XP_005266564.1

UniProtKB/Swiss-Prot

P30825, Q5JR50

UniProtKB/TrEMBL

B2R728

Conserved Domains (1) summary

TIGR00906
Location:4 → 610

2A0303; cationic amino acid transport permease
XM_047430552.1 → XP_047286508.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

28732320..28818340 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374878.1 → XP_054230853.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50
XM_054374877.1 → XP_054230852.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50
XM_054374879.1 → XP_054230854.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50
XM_054374880.1 → XP_054230855.1 high affinity cationic amino acid transporter 1 isoform X1

UniProtKB/Swiss-Prot

P30825, Q5JR50