RALGAPA1 - Ral GTPase activating protein catalytic subunit alpha 1 Gene

Homo sapiens

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

Gene ID: 253959 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11630	RALGAPA1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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