SLC7A3 (solute carrier family 7 member 3)

Gene

• Entrez ID: 84889
• Gene name: Solute carrier family 7 member 3
• Gene symbol: SLC7A3
• Synonyms (NCBI Gene): ATRC3, CAT-3, CAT3
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: 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 ID	Visualize variation	Clinical significance	Consequence
rs149447856	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000064	Function	L-ornithine transmembrane transporter activity	IDA	11591158
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11591158, 16332251
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006865	Process	Amino acid transport	IBA
GO:0006865	Process	Amino acid transport	IEA
GO:0006865	Process	Amino acid transport	TAS
GO:0015171	Function	Amino acid transmembrane transporter activity	IBA
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015174	Function	Basic amino acid transmembrane transporter activity	IEA
GO:0015189	Function	L-lysine transmembrane transporter activity	IDA	11591158
GO:0015189	Function	L-lysine transmembrane transporter activity	IEA
GO:0015822	Process	Ornithine transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0061459	Function	L-arginine transmembrane transporter activity	IDA	11591158
GO:0061459	Function	L-arginine transmembrane transporter activity	IEA
GO:0089718	Process	Amino acid import across plasma membrane	IEA
GO:0097638	Process	L-arginine import across plasma membrane	IDA	11591158
GO:0097639	Process	L-lysine import across plasma membrane	IDA	11591158
GO:0097640	Process	L-ornithine import across plasma membrane	IDA	11591158
GO:0150104	Process	Transport across blood-brain barrier	NAS	26590417, 30280653
GO:1903401	Process	L-lysine transmembrane transport	IEA
GO:1903826	Process	L-arginine transmembrane transport	IEA

Other IDs

• MIM: 300443
• HGNC: 11061
• e!Ensembl: ENSG00000165349

Protein

• 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:

  MPWQAFRRFGQKLVRRRTLESGMAETRLARCLSTLDLVALGVGSTLGAGVYVLAGEVAKD
  KAGPSIVICFLVAALSSVLAGLCYAEFGARVPRSGSAYLYSYVTVGELWAFTTGWNLILS
  YVIGTASVARAWSSAFDNLIGNHISKTLQGSIALHVPHVLAEYPDFFALGLVLLLTGLLA
  LGASESALVTKVFTGVNLLVLGFVMISGFVKGDVHNWKLTEEDYELAMAELNDTYSLGPL
  GSGGFVPFGFEGILRGAATCFYAFVGFDCIATTGEEAQNPQRSIPMGIVISLSVCFLAYF
  AVSSALTLMMPYYQLQPESPLPEAFLYIGWAPARYVVAVGSLCALSTSLLGSMFPMPRVI
  YAMAEDGLLFRVLARIHTGTRTPIIATVVSGIIAAFMAFLFKLTDLVDLMSIGTLLAYSL
  VSICVLILRYQPDQETKTGEEVELQEEAITTESEKLTLWGLFFPLNSIPTPLSGQIVYVC
  SSLLAVLLTALCLVLAQWSVPLLSGDLLWTAVVVLLLLLIIGIIVVIWRQPQSSTPLHFK
  VPALPLLPLMSIFVNIYLMMQMTAGTWARFGVWMLIGFAIYFGYGIQHSLEEIKSNQPSR
  KSRAKTVDLDPGTLYVHSV

• Sequence length: 619

Pathways

Reactome:

Amino acid transport across the plasma membrane

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC7A3-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26215737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cornea plana	Cornea Plana	BEFREE	9932285		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26215737		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Language Development Disorders	Language development disorders	Pubtator	33982443	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30865893		★☆☆☆☆ Found in Text Mining only
Plexiform leiomyoma	Plexiform leiomyoma	GWASCAT_DG	31649266		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30558624	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	GWASCAT_DG	31649266		★☆☆☆☆ Found in Text Mining only