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SLC7A7

Chr 14q11.2

solute carrier family 7 member 7

Aliases:
y+LAT-1, Y+LAT1
MANE:
ENST00000674313.1

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood interstitial lung disease

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Familial pulmonary fibrosis

    BIALLELIC, autosomal or pseudoautosomal
  • Hyperammonaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

  • lysinuric protein intolerance

    0.85
  • autoinflammatory syndrome

    0.41
  • Sensorineural hearing impairment

    0.37
  • type 2 diabetes mellitus

    0.29
  • hereditary disease

    0.19
  • amino acid metabolism disease

    0.19
  • cancer

    0.09
  • non-small cell lung carcinoma

    0.08
  • colorectal carcinoma

    0.07
  • benign neoplasm of pituitary gland

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Y+L amino acid transporter 1

Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesis via the transport of L-arginine (PubMed:10080182, PubMed:10655553, PubMed:14603368, PubMed:15756301, PubMed:15776427, PubMed:17329401, PubMed:9829974, PubMed:9878049). Also mediates arginine transport in non-polarized cells, such as monocytes, and is essential for the correct function of these cells (PubMed:15280038, PubMed:31705628). The transport mechanism is electroneutral and operates with a stoichiometry of 1:1 (By similarity). In vitro, Na(+) and Li(+), but also H(+), are cotransported with the neutral amino acids (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.