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Aliases for RALGPS1 Gene

Aliases for RALGPS1 Gene

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

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. Among its related pathways are Cytoskeleton remodeling_RalA regulation pathway. 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 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.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RALGPS1 Gene

Genomics for RALGPS1 Gene

Regulatory Elements for RALGPS1 Gene

Enhancers for RALGPS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G127158 1.5 Ensembl ENCODE dbSUPER 15.4 +245.0 245032 1.8 FOXA2 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 SLC30A9 RALGPS1 ANGPTL2 GARNL3 LOC105376278
GH09G127020 1.4 Ensembl ENCODE dbSUPER 16.3 +107.5 107471 3.1 PKNOX1 ARNT CREB3L1 SIN3A ZNF121 GATA2 FOS ZMIZ1 DEK ZNF263 RALGPS1 LOC105376279
GH09G127048 1.4 Ensembl ENCODE dbSUPER 16.1 +134.5 134493 2.5 TBP FOXA2 ARID4B RAD21 YY1 GATA2 FOS ETV6 CREM IKZF2 RALGPS1 RPL12 PIR43973 ANGPTL2
GH09G127130 1.4 Ensembl ENCODE dbSUPER 15.4 +218.1 218141 5.2 HDGF PKNOX1 FOXA2 FEZF1 RARA ZNF121 GATA2 ZSCAN5C FOS EGR2 RALGPS1 SLC2A8 ANGPTL2 LOC105376278
GH09G127034 1.3 Ensembl ENCODE dbSUPER 16.3 +121.0 121003 1.9 TBL1XR1 NFIB TAL1 E2F7 CEBPG EBF1 THRB TCF12 GATA2 NCOR1 RALGPS1 ZBTB34 PIR43973 ANGPTL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RALGPS1 on UCSC Golden Path with GeneCards custom track

Promoters for RALGPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241606 326 1401 PKNOX1 ATF1 AGO1 SIN3A BRCA1 GLIS2 ZNF143 ZNF207 FOS ZNF263

Genomic Location for RALGPS1 Gene

Chromosome:
9
Start:
126,914,774 bp from pter
End:
127,223,166 bp from pter
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 StructureGene Density

RefSeq DNA sequence for RALGPS1 Gene

Proteins for RALGPS1 Gene

  • 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA20808.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RALGPS1 Gene

    Alternative splice isoforms for RALGPS1 Gene

neXtProt entry for RALGPS1 Gene

Post-translational modifications for RALGPS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RALGPS1 Gene

Domains & Families for RALGPS1 Gene

Gene Families for RALGPS1 Gene

Protein Domains for RALGPS1 Gene

Suggested Antigen Peptide Sequences for RALGPS1 Gene

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

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.

Gene Ontology (GO) - Molecular Function for RALGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity NAS 10747847
GO:0008321 Ral guanyl-nucleotide exchange factor activity IDA 10747847
genes like me logo Genes that share ontologies with RALGPS1: view

Phenotypes for RALGPS1 Gene

GenomeRNAi human phenotypes for RALGPS1:
genes like me logo Genes that share phenotypes with RALGPS1: view

Animal Model Products

CRISPR Products

miRNA for RALGPS1 Gene

Inhibitory RNA Products

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
cytosol 3
nucleus 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for RALGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RALGPS1: view

Pathways & Interactions for RALGPS1 Gene

genes like me logo Genes that share pathways with RALGPS1: view

Pathways by source for RALGPS1 Gene

1 GeneTex pathway for RALGPS1 Gene
1 GeneGo (Thomson Reuters) pathway for RALGPS1 Gene

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:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RALGPS1: view

No data available for SIGNOR curated interactions for RALGPS1 Gene

Drugs & Compounds for RALGPS1 Gene

(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

mRNA/cDNA for RALGPS1 Gene

(33) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RALGPS1 Gene

Ral GEF with PH domain and SH3 binding motif 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
RALGPS1

Expression for RALGPS1 Gene

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



Protein tissue co-expression partners for RALGPS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RALGPS1 Gene:

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(4.6)
  • Intestine(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with RALGPS1: view

Primer Products

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 34 35
  • 98.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 86 (a)
OneToMany
-- 35
  • 50 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RALGPS1 34 35
  • 94.55 (n)
cow
(Bos Taurus)
Mammalia RALGPS1 34 35
  • 92.82 (n)
mouse
(Mus musculus)
Mammalia Ralgps1 34 16 35
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Ralgps1 34
  • 91.02 (n)
oppossum
(Monodelphis domestica)
Mammalia RALGPS1 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RALGPS1 34 35
  • 79.1 (n)
lizard
(Anolis carolinensis)
Reptilia RALGPS1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ralgps1 34
  • 76.04 (n)
zebrafish
(Danio rerio)
Actinopterygii ralgps1 34
  • 70.3 (n)
RALGPS1 35
  • 15 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5522 34 35
  • 51.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004853 34
  • 50.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 35
  • 6 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5548 35
  • 47 (a)
OneToMany
Species where no ortholog for RALGPS1 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)
  • 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 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)

Paralogs for RALGPS1 Gene

Paralogs for RALGPS1 Gene

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

genes like me logo Genes that share paralogs with RALGPS1: view

Variants for RALGPS1 Gene

Sequence variations from dbSNP and Humsavar for RALGPS1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000015196 -- 127,189,256(+) TTGTC(C/T)TCAAA intron-variant, upstream-variant-2KB
rs1000026958 -- 127,051,755(+) GGTAC(C/G)AGAGA intron-variant
rs1000030645 -- 126,941,300(+) AAATA(A/G)CAAAA intron-variant
rs1000045052 -- 127,052,025(+) TGATA(C/T)GTACT intron-variant
rs1000049814 -- 127,090,893(+) TCAGG(A/G)CCAGA intron-variant

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)

Relevant External Links for RALGPS1 Gene

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

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

Disorders for RALGPS1 Gene

Relevant External Links for RALGPS1

Genetic Association Database (GAD)
RALGPS1
Human Genome Epidemiology (HuGE) Navigator
RALGPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RALGPS1

No disorders were found for RALGPS1 Gene.

No data available for MalaCards , 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 J.F. … Quilliam L.A. (J. Biol. Chem. 2000) 2 3 4 64
  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 Res. 1997) 2 3 4 64
  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 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for RALGPS1 Gene

Sources for RALGPS1 Gene

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