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SLC13A1

Chr 7q31.32

solute carrier family 13 member 1

Aliases:
NaSi-1, NAS1
MANE:
ENST00000194130.7

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic short stature

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • alcohol drinking

    0.35
  • neurodegenerative disease

    0.34
  • hypopituitarism

    0.18
  • diabetes mellitus

    0.14
  • familial idiopathic steroid-resistant nephrotic syndrome

    0.07
  • focal segmental glomerulosclerosis

    0.06
  • Dent disease

    0.06
  • nephrotic syndrome

    0.06
  • hyperprolinemia type 1

    0.06
  • Dent disease type 1

    0.06

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

Protein function (UniProt)

Solute carrier family 13 member 1

Sodium:sulfate symporter that mediates sulfate reabsorption in the kidney and small intestine (PubMed:11161786, PubMed:38552027, PubMed:39576865). Can also mediate the transport of selenate and thiosulfate (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.