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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
SLC7A3-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs138954830, rs766875762, rs368309633, rs2521461458, rs137991585, rs144720442, rs771342262, rs149183635, rs149447856	RCV003918980 RCV003399728 RCV003404334 RCV003391368 RCV003944101 RCV003926882 RCV003976915 RCV003957326 RCV003906133

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