RALGAPA1 gene

Ral GTPase activating protein catalytic subunit alpha 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

From UniProt:

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

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION

Cytogenetic Location: 14q13.2, which is the long (q) arm of chromosome 14 at position 13.2

Molecular Location: base pairs 35,538,356 to 35,809,295 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q13.2, which is the long (q) arm of chromosome 14 at position 13.2
  • GARNL1
  • GRIPE
  • NEDHRIT
  • p240
  • RalGAPalpha1
  • TULIP1