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Aliases for RALGAPA1 Gene

Aliases for RALGAPA1 Gene

  • Ral GTPase Activating Protein Catalytic Alpha Subunit 1 2 3 5
  • Tuberin-Like Protein 1 2 3 4
  • GTPase Activating Rap/RanGAP Domain-Like 1 2 3
  • GAP-Related Interacting Protein To E12 2 3
  • GARNL1 3 4
  • TULIP1 3 4
  • GRIPE 3 4
  • P240 3 4
  • Ral GTPase Activating Protein, Alpha Subunit 1 (Catalytic) 3
  • Ral GTPase-Activating Protein Subunit Alpha-1 3
  • GTPase-Activating Rap/Ran-GAP Domain-Like 1 4
  • GTPase Activating RANGAP Domain-Like 1 2
  • GAP-Related-Interacting Partner To E12 4
  • RalGAPalpha1 3
  • KIAA0884 4

External Ids for RALGAPA1 Gene

Previous HGNC Symbols for RALGAPA1 Gene

  • GARNL1

Previous GeneCards Identifiers for RALGAPA1 Gene

  • GC14M035080
  • GC14M036008
  • GC14M016121

Summaries for RALGAPA1 Gene

Entrez Gene Summary for RALGAPA1 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]

GeneCards Summary for RALGAPA1 Gene

RALGAPA1 (Ral GTPase Activating Protein Catalytic Alpha Subunit 1) is a Protein Coding gene. Diseases associated with RALGAPA1 include Holoprosencephaly 8 and Ebola Hemorrhagic Fever. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and GTPase activator activity. An important paralog of this gene is RALGAPA2.

UniProtKB/Swiss-Prot for RALGAPA1 Gene

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

Gene Wiki entry for RALGAPA1 Gene

Additional gene information for RALGAPA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RALGAPA1 Gene

Genomics for RALGAPA1 Gene

GeneHancer (GH) Regulatory Elements for RALGAPA1 Gene

Promoters and enhancers for RALGAPA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I035807 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 592.2 +0.7 737 2.8 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF213 RALGAPA1 NFKBIA QRSL1P3
GH14I035825 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.3 -17.0 -17012 2.2 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 BRMS1L ENSG00000258938 RALGAPA1 NUTF2P2
GH14I035533 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 16.5 +275.3 275303 0.4 ARID4B SIN3A DNMT3B ZNF48 ZSCAN9 RARA ZNF335 ZNF121 GLIS2 ZNF391 INSM2 RALGAPA1 KRT18P6
GH14I035044 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.6 +762.6 762627 3.5 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 FAM177A1 PPP2R3C RALGAPA1 RNU1-27P EAPP BAZ1A LOC101927178
GH14I035856 Enhancer 0.8 ENCODE 35.1 -47.1 -47145 0.8 PKNOX1 BMI1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 CBFB RALGAPA1 BRMS1L ENSG00000257272 ENSG00000258938
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RALGAPA1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RALGAPA1 Gene

Genomic Locations for RALGAPA1 Gene
chr14:35,538,352-35,809,304
(GRCh38/hg38)
Size:
270,953 bases
Orientation:
Minus strand
chr14:36,007,558-36,278,510
(GRCh37/hg19)

Genomic View for RALGAPA1 Gene

Genes around RALGAPA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RALGAPA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RALGAPA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RALGAPA1 Gene

Proteins for RALGAPA1 Gene

  • Protein details for RALGAPA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6GYQ0-RGPA1_HUMAN
    Recommended name:
    Ral GTPase-activating protein subunit alpha-1
    Protein Accession:
    Q6GYQ0
    Secondary Accessions:
    • A6NMA4
    • B9EK38
    • C5NU19
    • O94960
    • Q6GYP9
    • Q6ZT23
    • Q86YF3
    • Q86YF5
    • Q8ND69

    Protein attributes for RALGAPA1 Gene

    Size:
    2036 amino acids
    Molecular mass:
    229832 Da
    Quaternary structure:
    • Component of the heterodimeric RalGAP1 complex with RALGAPB. Heterodimerization is required for activity. Interacts with the HLH region of TCF3/isoform E12 (By similarity).
    SequenceCaution:
    • Sequence=BAC86772.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RALGAPA1 Gene

neXtProt entry for RALGAPA1 Gene

Post-translational modifications for RALGAPA1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RALGAPA1 Gene

Domains & Families for RALGAPA1 Gene

Gene Families for RALGAPA1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RALGAPA1 Gene

Suggested Antigen Peptide Sequences for RALGAPA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RALGAPA1: view

No data available for UniProtKB/Swiss-Prot for RALGAPA1 Gene

Function for RALGAPA1 Gene

Molecular function for RALGAPA1 Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.

Phenotypes From GWAS Catalog for RALGAPA1 Gene

Gene Ontology (GO) - Molecular Function for RALGAPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity ISS --
GO:0046982 protein heterodimerization activity IPI 19520869
genes like me logo Genes that share ontologies with RALGAPA1: view
genes like me logo Genes that share phenotypes with RALGAPA1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RALGAPA1 Gene

Localization for RALGAPA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALGAPA1 Gene

Cytoplasm. Nucleus. Note=Translocated to the nucleus, when associated with TCF3/E12. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RALGAPA1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RALGAPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IBA,ISS --
genes like me logo Genes that share ontologies with RALGAPA1: view

Pathways & Interactions for RALGAPA1 Gene

genes like me logo Genes that share pathways with RALGAPA1: view

Pathways by source for RALGAPA1 Gene

1 GeneTex pathway for RALGAPA1 Gene
1 BioSystems pathway for RALGAPA1 Gene

Gene Ontology (GO) - Biological Process for RALGAPA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction IEA --
GO:0090630 activation of GTPase activity ISS --
genes like me logo Genes that share ontologies with RALGAPA1: view

No data available for SIGNOR curated interactions for RALGAPA1 Gene

Drugs & Compounds for RALGAPA1 Gene

(1) Drugs for RALGAPA1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
RBC8 Pharma 0

(1) ApexBio Compounds for RALGAPA1 Gene

Compound Action Cas Number
RBC8 361185-42-4
genes like me logo Genes that share compounds with RALGAPA1: view

Drug Products

Transcripts for RALGAPA1 Gene

Unigene Clusters for RALGAPA1 Gene

Ral GTPase activating protein, alpha subunit 1 (catalytic):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RALGAPA1 Gene

No ASD Table

Relevant External Links for RALGAPA1 Gene

GeneLoc Exon Structure for
RALGAPA1
ECgene alternative splicing isoforms for
RALGAPA1

Expression for RALGAPA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RALGAPA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RALGAPA1 Gene

This gene is overexpressed in Liver (23.4) and Esophagus (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RALGAPA1 Gene



Protein tissue co-expression partners for RALGAPA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RALGAPA1 Gene:

RALGAPA1

SOURCE GeneReport for Unigene cluster for RALGAPA1 Gene:

Hs.113150

mRNA Expression by UniProt/SwissProt for RALGAPA1 Gene:

Q6GYQ0-RGPA1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for RALGAPA1 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Skin(4.2)
  • Lymph node(4.1)
genes like me logo Genes that share expression patterns with RALGAPA1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALGAPA1 Gene

Orthologs for RALGAPA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RALGAPA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RALGAPA1 33 34
  • 99.74 (n)
cow
(Bos Taurus)
Mammalia GARNL1 34
  • 94 (a)
OneToOne
RALGAPA1 33
  • 93.99 (n)
rat
(Rattus norvegicus)
Mammalia Ralgapa1 33
  • 91.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RALGAPA1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ralgapa1 33 16 34
  • 90.85 (n)
oppossum
(Monodelphis domestica)
Mammalia RALGAPA1 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves RALGAPA1 33 34
  • 81.47 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 89 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ralgapa1 33 34
  • 67.68 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5521 33 34
  • 48.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004143 33
  • 46.9 (n)
worm
(Caenorhabditis elegans)
Secernentea Y18H1A.3 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
OneToMany
Species where no ortholog for RALGAPA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RALGAPA1 Gene

ENSEMBL:
Gene Tree for RALGAPA1 (if available)
TreeFam:
Gene Tree for RALGAPA1 (if available)

Paralogs for RALGAPA1 Gene

Paralogs for RALGAPA1 Gene

(3) SIMAP similar genes for RALGAPA1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for RALGAPA1 Gene

genes like me logo Genes that share paralogs with RALGAPA1: view

Variants for RALGAPA1 Gene

Sequence variations from dbSNP and Humsavar for RALGAPA1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs796052176 likely-benign, Long QT syndrome 35,549,217(-) C/G/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1000013026 -- 35,756,687(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000015403 -- 35,800,093(-) A/C genic_upstream_transcript_variant, intron_variant
rs1000037115 -- 35,577,981(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000050321 -- 35,605,982(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RALGAPA1 Gene

Variant ID Type Subtype PubMed ID
esv2549342 CNV deletion 19546169
esv3307851 CNV mobile element insertion 20981092
esv3338357 CNV insertion 20981092
esv3634063 CNV loss 21293372
esv3634066 CNV loss 21293372
nsv1241 CNV insertion 18451855
nsv456206 CNV loss 19166990
nsv507742 OTHER sequence alteration 20534489
nsv525294 CNV loss 19592680
nsv564341 CNV loss 21841781
nsv564342 CNV loss 21841781
nsv564343 CNV loss 21841781
nsv976331 CNV duplication 23825009

Variation tolerance for RALGAPA1 Gene

Residual Variation Intolerance Score: 7.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.80; 86.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGAPA1 Gene

Human Gene Mutation Database (HGMD)
RALGAPA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RALGAPA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RALGAPA1 Gene

Disorders for RALGAPA1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RALGAPA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
holoprosencephaly 8
  • hpe8
ebola hemorrhagic fever
  • ebola virus disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALGAPA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RALGAPA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RALGAPA1 Gene

Publications for RALGAPA1 Gene

  1. Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. (PMID: 19520869) Shirakawa R … Horiuchi H (The Journal of biological chemistry 2009) 2 3 4 58
  2. Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue. (PMID: 15498464) Schwarzbraun T … Petek E (Genomics 2004) 3 4 22 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for RALGAPA1 Gene

Sources for RALGAPA1 Gene

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