SLC7A3 (solute carrier family 7 member 3)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84889
Gene name Gene Name - the full gene name approved by the HGNC.
Solute carrier family 7 member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SLC7A3
Synonyms (NCBI Gene) Gene synonyms aliases
ATRC3, CAT-3, CAT3
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs149447856 C>G,T Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
GO ID Ontology Definition Evidence Reference
GO:0000064 Function L-ornithine transmembrane transporter activity IBA 21873635
GO:0000064 Function L-ornithine transmembrane transporter activity IDA 11591158
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 11591158, 16332251
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300443 11061 ENSG00000165349
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WY07
Protein name Cationic amino acid transporter 3 (CAT-3) (CAT3) (Cationic amino acid transporter y+) (Solute carrier family 7 member 3)
Protein function Uniporter that mediates the uptake of cationic L-amino acids such as L-arginine, L-lysine and L-ornithine (PubMed:11591158). The transport is sodium ions- and pH-independent, moderately trans-stimulated and is mediated by passive diffusion (PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13520 AA_permease_2 32 → 466 Amino acid permease Family
PF13906 AA_permease_C 539 → 589 C-terminus of AA_permease Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in thymus, uterus and testis (PubMed:11591158). Detected at lower levels in brain, mammary gland, prostate, salivary gland and fetal spleen (PubMed:11591158). In brain, highest expression in thalamus, hippocampus and a
Sequence
Sequence length 619
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Amino acid transport across the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Autism Spectrum Disorder autism spectrum disorder GenCC
Uterine Fibroids Uterine Fibroids GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Show/Hide Text Mining Associations (5)
Associations from Text Mining
Disease Name Relationship Type References
Heart Defects Congenital Associate 33982443
Intellectual Disability Associate 33982443
Language Development Disorders Associate 33982443
Mental Disorders Associate 33982443
Thyroid Cancer Papillary Associate 30558624