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RALGAPA1

Chr 14q13.2

Ral GTPase activating protein catalytic subunit alpha 1

Aliases:
GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1
MANE:
ENST00000680220.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation

    0.74
  • neurodegenerative disease

    0.50
  • hereditary disease

    0.42
  • neurodevelopmental disorder

    0.37
  • sleep apnea syndrome

    0.34
  • nodular goiter

    0.33
  • ovarian neoplasm

    0.30
  • ovarian dysfunction

    0.29
  • arthropathy

    0.29
  • placental retention

    0.26

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

Protein function (UniProt)

Ral GTPase-activating protein subunit alpha-1

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB

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.