RALGAPA1 - Ral GTPase activating protein catalytic subunit alpha 1 Gene

Also Known as p240; GRIPE; GARNL1; TULIP1; NEDHRIT; RalGAPalpha1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 253959

About RALGAPA1

Cytogenetic location: 14q13.2 Genomic coordinates (GRCh38): 14:35,538,356-35,809,295 (from NCBI)

This gene has 20 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.2) and 25 other tissues.

Summary

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]

RALGAPA1 Products (11)

mRNA Protein Name
NM_001283043.3 NP_001269972.1 ral GTPase-activating protein subunit alpha-1 isoform 3
NM_001283044.3 NP_001269973.1 ral GTPase-activating protein subunit alpha-1 isoform 4
NM_001330075.3 NP_001317004.1 ral GTPase-activating protein subunit alpha-1 isoform 5
NM_001346243.2 NP_001333172.1 ral GTPase-activating protein subunit alpha-1 isoform 1
NM_001346245.2 NP_001333174.1 ral GTPase-activating protein subunit alpha-1 isoform 4
NM_001346246.2 NP_001333175.1 ral GTPase-activating protein subunit alpha-1 isoform 6
NM_001346247.2 NP_001333176.1 ral GTPase-activating protein subunit alpha-1 isoform 7
NM_001346248.2 NP_001333177.1 ral GTPase-activating protein subunit alpha-1 isoform 5
NM_001346249.2 NP_001333178.1 ral GTPase-activating protein subunit alpha-1 isoform 8
NM_014990.3 NP_055805.1 ral GTPase-activating protein subunit alpha-1 isoform 1
NM_194301.4 NP_919277.2 ral GTPase-activating protein subunit alpha-1 isoform 2

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein heterodimerization activity IPI
IPI: Inferred from physical interaction
19520869 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RALGAPA1 Protein Structure

Rap_GAP

Rap_GAP: Rap/ran-GAP (1825 - 2004)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2036 a.a.
Protein Preferred Names Protein Names

ral GTPase-activating protein subunit alpha-1

  • GAP-related interacting protein to E12

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation

  • NEDHRIT
West Syndrome

  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic
Chromosome 14q11-Q22 Deletion Syndrome

  • 14q11.2 Microdeletion Syndrome

  • Zahir-Friedman Syndrome

  • Del(14)(Q11.2)

  • Monosomy 14q11.2
Holoprosencephaly 8

  • HPE8

  • Holoprosencephaly-8
Hypotonia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11630 RALGAPA1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta RALGAPA1 VGNC VGNC:76504
Felis catus RALGAPA1 VGNC VGNC:64483
Mus musculus RALGAPA1 MGD MGI:1931050
Rattus norvegicus RALGAPA1 RGD RGD:620642
Bos taurus RALGAPA1 VGNC VGNC:33701
Others RALGAPA1 NCBI