Gene Gene information from NCBI Gene database.
Entrez ID 6541
Gene name Solute carrier family 7 member 1
Gene symbol SLC7A1
Synonyms (NCBI Gene)
ATRC1CAT-1ERRHCAT1REC1L
Chromosome 13
Chromosome location 13q12.3
miRNA miRNA information provided by mirtarbase database.
1210
miRTarBase ID miRNA Experiments Reference
MIRT003105 hsa-miR-122-5p Luciferase reporter assayWestern blot 17179747
MIRT003105 hsa-miR-122-5p Luciferase reporter assayWestern blot 17179747
MIRT003105 hsa-miR-122-5p Luciferase reporter assayWestern blot 17179747
MIRT003105 hsa-miR-122-5p Luciferase reporter assayWestern blot 17179747
MIRT003105 hsa-miR-122-5p Luciferase reporter assayWestern blot 17179747
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NRIP1 Activation 17056252
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000064 Function L-ornithine transmembrane transporter activity IBA
GO:0000064 Function L-ornithine transmembrane transporter activity IEA
GO:0000064 Function L-ornithine transmembrane transporter activity ISS
GO:0001618 Function Virus receptor activity IEA
GO:0005290 Function L-histidine transmembrane transporter activity IDA 11591158
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
104615 11057 ENSG00000139514
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P30825
Protein name High affinity cationic amino acid transporter 1 (CAT-1) (CAT1) (Ecotropic retroviral leukemia receptor homolog) (Ecotropic retrovirus receptor homolog) (Solute carrier family 7 member 1) (System Y+ basic amino acid transporter)
Protein function High-affinity, low capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) in non-hepatic tissues.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 32 446 Amino acid permease Family
PF13906 AA_permease_C 558 608 C-terminus of AA_permease Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:1718082}.
Sequence
Sequence length 629
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MicroRNAs in cancer   Amino acid transport across the plasma membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 11401523
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve BEFREE 29147966
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 28969007
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11559547, 21308737
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bronchitis, Chronic Gastric Cancer BEFREE 29942122
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30176945, 33399102, 35839757 Associate
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 28542008
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases GWASCAT_DG 30595370
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 24040099
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 24040099
★☆☆☆☆
Found in Text Mining only