RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)

RALGAPA1 (Ral GTPase activating protein catalytic subunit alpha 1)

2014-11-01 Affiliation

Identity

HGNC

LOCATION

14q13.2

LOCUSID

ALIAS

GARNL1,GRIPE,NEDHRIT,RalGAPalpha1,TULIP1,p240

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174373	ENST00000307138	Q6GYQ0
ENSG00000174373	ENST00000382366	Q6GYQ0
ENSG00000174373	ENST00000389698	Q6GYQ0
ENSG00000174373	ENST00000553892	Q6GYQ0
ENSG00000174373	ENST00000554259	H0YJB5
ENSG00000174373	ENST00000554573	H0YJ04
ENSG00000174373	ENST00000637992	A0A1B0GUI1

Expression (GTEx)

0

5

10

15

20

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
38141762	2024	Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein α1.	0
38141762	2024	Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein α1.	0
32004447	2020	Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.	8
32004447	2020	Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.	8
24768767	2014	GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins.	20
24768767	2014	GARNL1, a major RalGAP α subunit in skeletal muscle, regulates insulin-stimulated RalA activation and GLUT4 trafficking via interaction with 14-3-3 proteins.	20
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
19733229	2009	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.	12
19733229	2009	TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.	12
15037602	2004	RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly.	28
15037602	2004	RanGAP1*SUMO1 is phosphorylated at the onset of mitosis and remains associated with RanBP2 upon NPC disassembly.	28

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/img/css/lib/js/lib/jquery-3.5.1.min.js