SLC38A6 (solute carrier family 38 member 6)

Gene

• Entrez ID: 145389
• Gene name: Solute carrier family 38 member 6
• Gene symbol: SLC38A6
• Synonyms (NCBI Gene): NAT-1, SNAT6
• Chromosome: 14
• Chromosome location: 14q23.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030298	hsa-miR-26b-5p	Microarray	19088304
MIRT756222	hsa-miR-1178-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35813866

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003333	Process	Amino acid transmembrane transport	IBA
GO:0005313	Function	L-glutamate transmembrane transporter activity	IEA
GO:0005313	Function	L-glutamate transmembrane transporter activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006865	Process	Amino acid transport	IEA
GO:0006868	Process	Glutamine transport	IBA
GO:0015186	Function	L-glutamine transmembrane transporter activity	IBA
GO:0015186	Function	L-glutamine transmembrane transporter activity	IEA
GO:0015186	Function	L-glutamine transmembrane transporter activity	ISS
GO:0015813	Process	L-glutamate transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0045202	Component	Synapse	IEA

Other IDs

• MIM: 616518
• HGNC: 19863
• e!Ensembl: ENSG00000139974

Protein

• UniProt ID: Q8IZM9
• Protein name: Solute carrier family 38 member 6 (Amino acid transporter SLC38A6) (N-system amino acid transporter 1) (NAT-1)
• Protein function: Amino acid transporter with an apparent selectivity for L-glutamine and L-glutamate. May facilitate glutamine uptake in excitatory neurons. The transport mechanism remains to be elucidated.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01490	Aa_trans	43 → 451	Transmembrane amino acid transporter protein	Family

• Sequence:

  MEASWGSFNAERGWYVSVQQPEEAEAEELSPLLSNELHRQRSPGVSFGLSVFNLMNAIMG
  SGILGLAYVLANTGVFGFSFLLLTVALLASYSVHLLLSMCIQTAVTSYEDLGLFAFGLPG
  KLVVAGTIIIQNIGAMSSYLLIIKTELPAAIAEFLTGDYSRYWYLDGQTLLIIICVGIVF
  PLALLPKIGFLGYTSSLSFFFMMFFALVVIIKKWSIPCPLTLNYVEKGFQISNVTDDCKP
  KLFHFSKESAYALPTMAFSFLCHTSILPIYCELQSPSKKRMQNVTNTAIALSFLIYFISA
  LFGYLTFYDKVESELLKGYSKYLSHDVVVMTVKLCILFAVLLTVPLIHFPARKAVTMMFF
  SNFPFSWIRHFLITLALNIIIVLLAIYVPDIRNVFGVVGASTSTCLIFIFPGLFYLKLSR
  EDFLSWKKLGAFVLLIFGILVGNFSLALIIFDWINK

• Sequence length: 456

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
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	32228510	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	10507782		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	14517345		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37866659	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	10507782		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14517345		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	10507782		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14517345, 9770500		★☆☆☆☆ Found in Text Mining only