RALGPS1 Gene (Protein Coding)

Ral GEF With PH Domain And SH3 Binding Motif 1

GC09P126914
GIFtS:
38
See more...

Aliases for RALGPS1 Gene

Aliases for RALGPS1 Gene

  • Ral GEF With PH Domain And SH3 Binding Motif 1 2 3 5
  • RALGEF2 2 3 4
  • Ras-Specific Guanine Nucleotide-Releasing Factor RalGPS1 3 4
  • Ral Guanine Nucleotide Exchange Factor 2 3 4
  • RalA Exchange Factor RalGPS1 3 4
  • RALGPS1A 2 3
  • KIAA0351 2 4
  • Ral Guanine Nucleotide Exchange Factor RalGPS1A 3
  • Ral GEF With PH Domain And SH3-Binding Motif 1 4
  • RalGEF 2 4
  • RALGPS1 5

External Ids for RALGPS1 Gene

Previous GeneCards Identifiers for RALGPS1 Gene

  • GC09U900571
  • GC09P126757
  • GC09P128716
  • GC09P129679
  • GC09P099292

Summaries for RALGPS1 Gene

GeneCards Summary for RALGPS1 Gene

RALGPS1 (Ral GEF With PH Domain And SH3 Binding Motif 1) is a Protein Coding gene. Diseases associated with RALGPS1 include Developmental And Epileptic Encephalopathy 4. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and Ral guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGPS2.

UniProtKB/Swiss-Prot Summary for RALGPS1 Gene

  • Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for.

Additional gene information for RALGPS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RALGPS1 Gene

Genomics for RALGPS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RALGPS1 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
GH09J126914 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 266.6 +1.1 1148 3.5 SP1 MBD2 ZNF217 BRCA1 ELF1 NONO ZIC2 SIN3A CTCF IRF3 RALGPS1 ZBTB34 HSALNG0074467 ANGPTL2
GH09J127120 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 15.9 +207.9 207886 3.7 MXD4 BHLHE40 ZIC2 SIN3A MAX SMAD4 SAP130 RXRA EBF1 GABPB1 ANGPTL2 RALGPS1 ZNF79 lnc-RPL12-4
GH09J126804 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 -108.7 -108673 3.8 TBP ZBTB10 SP1 CEBPA NR2C1 MNT DEK IKZF1 SMAD5 ETS1 ZBTB43 HSALNG0074460 lnc-ANGPTL2-9 ZBTB34 RALGPS1 RF00994-1155
GH09J127020 Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.3 +107.9 107911 4 BHLHE40 ZNF513 CTBP1 ADNP SMARCE1 RAD51 NRF1 ZNF384 CTCF IKZF1 LOC105376279 RALGPS1 piR-32974 ANGPTL2
GH09J127158 Enhancer 1.3 Ensembl ENCODE dbSUPER 15.4 +246.8 246826 6.4 MXD4 CEBPA MNT ZFP64 ZNF217 CTCF BHLHE40 ZIC2 HOMEZ KDM6A RALGPS1 LOC102723566 ANGPTL2 SNORA65 GARNL3 lnc-GARNL3-3 lnc-ANGPTL2-6 HSALNG0074473
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RALGPS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RALGPS1

Top Transcription factor binding sites by QIAGEN in the RALGPS1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • E47
  • GR
  • GR-alpha
  • Tal-1

Genomic Locations for RALGPS1 Gene

Latest Assembly
chr9:126,914,774-127,223,166
(GRCh38/hg38)
Size:
308,393 bases
Orientation:
Plus strand

Previous Assembly
chr9:129,677,061-129,985,445
(GRCh37/hg19 by Entrez Gene)
Size:
308,385 bases
Orientation:
Plus strand

chr9:129,677,053-129,985,445
(GRCh37/hg19 by Ensembl)
Size:
308,393 bases
Orientation:
Plus strand

Genomic View for RALGPS1 Gene

Genes around RALGPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RALGPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RALGPS1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RALGPS1 Gene

Proteins for RALGPS1 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for RALGPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JS13-RGPS1_HUMAN
    Recommended name:
    Ras-specific guanine nucleotide-releasing factor RalGPS1
    Protein Accession:
    Q5JS13
    Secondary Accessions:
    • B4DR86
    • E9PBQ5
    • O15059
    • Q5JT60
    • Q5JT65
    • Q5JUG5
    • Q8N4S6
    • Q8N5H4
    • Q8WUV7
    • Q9NZ16

    Protein attributes for RALGPS1 Gene

    Size:
    557 amino acids
    Molecular mass:
    62133 Da
    Quaternary structure:
    • Interacts with the SH3 domains of GRB2, NCK1, PLCG1 and SRC.
    SequenceCaution:
    • Sequence=AAH19329.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA20808.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RALGPS1 Gene

    Alternative splice isoforms for RALGPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RALGPS1 Gene

Protein Expression for RALGPS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RALGPS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RALGPS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RALGPS1 Gene

Domains & Families for RALGPS1 Gene

Gene Families for RALGPS1 Gene

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

Protein Domains for RALGPS1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RALGPS1 Gene

GenScript: Design optimal peptide antigens:
  • Ral GEF with PH domain and SH3 binding motif 1 (Q5JS12_HUMAN)
  • RalA exchange factor RalGPS1 (RGPS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5JS13

UniProtKB/Swiss-Prot:

RGPS1_HUMAN :
  • The PH domain mediates binding to membranes. It is required for efficient GEF activity.
Domain:
  • The PH domain mediates binding to membranes. It is required for efficient GEF activity.
genes like me logo Genes that share domains with RALGPS1: view

Function for RALGPS1 Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for RALGPS1 Gene

UniProtKB/Swiss-Prot Function:
Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for.

Phenotypes From GWAS Catalog for RALGPS1 Gene

Gene Ontology (GO) - Molecular Function for RALGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IDA,NAS 10747847
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with RALGPS1: view

Phenotypes for RALGPS1 Gene

MGI mutant phenotypes for RALGPS1:
inferred from 1 alleles
GenomeRNAi human phenotypes for RALGPS1:
genes like me logo Genes that share phenotypes with RALGPS1: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGPS1

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RALGPS1 Gene

Localization for RALGPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RALGPS1 Gene

Cytoplasm. Cell membrane. Note=Associates with membranes through the PH domain.

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 RALGPS1 gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for RALGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RALGPS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RALGPS1 Gene

Pathways & Interactions for RALGPS1 Gene

PathCards logo

SuperPathways for RALGPS1 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling_RalA regulation pathway
Cytoskeleton remodeling_RalA regulation pathway
-
genes like me logo Genes that share pathways with RALGPS1: view

Pathways by source for RALGPS1 Gene

1 GeneGo (Thomson Reuters) pathway for RALGPS1 Gene
  • Cytoskeleton remodeling_RalA regulation pathway
1 GeneTex pathway for RALGPS1 Gene

SIGNOR curated interactions for RALGPS1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for RALGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0032485 regulation of Ral protein signal transduction IDA 10747847
GO:0035556 intracellular signal transduction NAS 10747847
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with RALGPS1: view

Drugs & Compounds for RALGPS1 Gene

Products:

  1. Drug products for research

(3) Drugs for RALGPS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RALGPS1: view

Transcripts for RALGPS1 Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for RALGPS1 Gene

13 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RALGPS1

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for RALGPS1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - -
SP6: -
SP7:
SP8:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26
SP1: - -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for RALGPS1 Gene

GeneLoc Exon Structure for
RALGPS1

Expression for RALGPS1 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RALGPS1 Gene

mRNA expression in normal human tissues for RALGPS1 Gene
mRNA expression by GTEx for RALGPS1 GenemRNA expression by BioGPS for RALGPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RALGPS1 Gene

This gene is overexpressed in Plasma (28.6), Heart (26.1), and Prostate (11.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RALGPS1 Gene



Protein tissue co-expression partners for RALGPS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RALGPS1

SOURCE GeneReport for Unigene cluster for RALGPS1 Gene:

Hs.432842

mRNA Expression by UniProt/SwissProt for RALGPS1 Gene:

Q5JS13-RGPS1_HUMAN
Tissue specificity: Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lower levels in brain, pancreas, skeletal muscle, small intestine and thymus.

Evidence on tissue expression from TISSUES for RALGPS1 Gene

  • Nervous system(4.7)
  • Pancreas(4.1)
  • Intestine(4.1)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with RALGPS1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RALGPS1 Gene

Orthologs for RALGPS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RALGPS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RALGPS1 30 31
  • 98.38 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 98 (a)
 OneToMany
-- 31
  • 86 (a)
 OneToMany
-- 31
  • 50 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia RALGPS1 30 31
  • 94.55 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RALGPS1 30 31
  • 92.82 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ralgps1 30 17 31
  • 91.14 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ralgps1 30
  • 91.02 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RALGPS1 31
  • 81 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves RALGPS1 30 31
  • 79.1 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RALGPS1 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ralgps1 30
  • 76.04 (n)
Zebrafish
(Danio rerio)
 Actinopterygii ralgps1 30
  • 70.3 (n)
RALGPS1 31
  • 15 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5522 30 31
  • 51.65 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004853 30
  • 50.07 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes CDC25 31
  • 6 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.5548 31
  • 47 (a)
 OneToMany
Species where no ortholog for RALGPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for RALGPS1 Gene

ENSEMBL:
Gene Tree for RALGPS1 (if available)
TreeFam:
Gene Tree for RALGPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RALGPS1: view image

Paralogs for RALGPS1 Gene

Paralogs for RALGPS1 Gene

(2) SIMAP similar genes for RALGPS1 Gene using alignment to 3 proteins:

  • RGPS1_HUMAN
  • H0Y6A2_HUMAN
  • Q5JT61_HUMAN
genes like me logo Genes that share paralogs with RALGPS1: view

Variants for RALGPS1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RALGPS1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs55918931 - p.Ser290Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RALGPS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RALGPS1 Gene

Variant ID Type Subtype PubMed ID
esv3621766 CNV gain 21293372
esv3621776 CNV loss 21293372
nsv1075269 CNV deletion 25765185
nsv517522 CNV loss 19592680
nsv615342 CNV loss 21841781
nsv6721 CNV insertion 18451855
nsv825086 CNV gain 20364138
nsv831726 CNV gain+loss 17160897

Variation tolerance for RALGPS1 Gene

Residual Variation Intolerance Score: 41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.66; 56.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RALGPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RALGPS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RALGPS1 Gene

Disorders for RALGPS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RALGPS1 Gene - From: COP

Disorder Aliases PubMed IDs
developmental and epileptic encephalopathy 4
  • dee4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RALGPS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with RALGPS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RALGPS1 Gene

Publications for RALGPS1 Gene

  1. Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral. (PMID: 10747847) Rebhun JF … Quilliam LA (The Journal of biological chemistry 2000) 2 3 4
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  3. Structural study of the Cdc25 domain from Ral-specific guanine-nucleotide exchange factor RalGPS1a. (PMID: 21494904) Peng W … Rao Z (Protein & cell 2011) 3 4
  4. 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 41
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

ExternalLinks

View latest publications for RALGPS1 gene in Mastermind

Products for RALGPS1 Gene

Sources for RALGPS1 Gene