RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)

2014-11-01  

Identity

HGNC
LOCATION
14q13.2
LOCUSID
ALIAS
GARNL1,GRIPE,NEDHRIT,RalGAPalpha1,TULIP1,p240
FUSION GENES

Other Information

Locus ID:

NCBI: 253959
MIM: 608884
HGNC: 17770
Ensembl: ENSG00000174373

Variants:

dbSNP: 253959
ClinVar: 253959
TCGA: ENSG00000174373
COSMIC: RALGAPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174373ENST00000307138Q6GYQ0
ENSG00000174373ENST00000382366Q6GYQ0
ENSG00000174373ENST00000389698Q6GYQ0
ENSG00000174373ENST00000553892Q6GYQ0
ENSG00000174373ENST00000554259H0YJB5
ENSG00000174373ENST00000554573H0YJ04
ENSG00000174373ENST00000637992A0A1B0GUI1

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
150376022004RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly.22
197332292009TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.0
247687672014GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins.0
320044472020Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.0

Citation

Dessen P

RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72476/ralgapa1