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Aliases for RGL1 Gene

Aliases for RGL1 Gene

  • Ral Guanine Nucleotide Dissociation Stimulator Like 1 2 3 5
  • RalGDS-Like 1 3 4
  • RGL 3 4
  • Ral Guanine Nucleotide Dissociation Stimulator-Like 1 3
  • KIAA0959 4

External Ids for RGL1 Gene

Previous GeneCards Identifiers for RGL1 Gene

  • GC01P180845
  • GC01P180336
  • GC01P181871
  • GC01P183605
  • GC01P154841

Summaries for RGL1 Gene

GeneCards Summary for RGL1 Gene

RGL1 (Ral Guanine Nucleotide Dissociation Stimulator Like 1) is a Protein Coding gene. Diseases associated with RGL1 include Nutritional Optic Neuropathy and Toxic Optic Neuropathy. Among its related pathways are G-protein signaling N-RAS regulation pathway and Metabolism. 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 RALGDS.

UniProtKB/Swiss-Prot for RGL1 Gene

  • Probable guanine nucleotide exchange factor.

Additional gene information for RGL1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RGL1 Gene

Genomics for RGL1 Gene

GeneHancer (GH) Regulatory Elements for RGL1 Gene

Promoters and enhancers for RGL1 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
GH01I183804 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.1 +170.7 170667 5 ELF3 PKNOX1 RB1 SIN3A DMAP1 BATF KLF5 IRF4 SCRT2 ZNF207 RGL1 DHX9 ENSG00000227554 SMG7 NCF2 ARPC5 GC01M183931
GH01I183632 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 -1.3 -1346 4.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ARPC5 RGL1 GC01M183630 NCF2 DHX9
GH01I183602 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.9 -29.3 -29346 8.2 HDGF PKNOX1 ATF1 FOXA2 SMAD1 ZNF133 YBX1 IRF4 YY1 ZNF207 NCF2 ARPC5 RGL1 APOBEC4 SMG7 GC01M183620
GH01I183043 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.1 -591.5 -591519 2.8 PKNOX1 FOXA2 SMAD1 NFIB ZNF529 INSM2 ZNF195 FEZF1 RAD21 YY1 DHX9 LAMC1-AS1 LAMC1 RGL1
GH01I183869 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 5.9 +236.2 236164 5.8 SOX13 ZBTB21 JUN EBF1 ZBTB40 BATF FOSL2 ETV6 HOMEZ SRF APOBEC4 ENSG00000227554 RGL1 NCF2 GC01M183931
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RGL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RGL1 gene promoter:

Genomic Locations for RGL1 Gene

Genomic Locations for RGL1 Gene
chr1:183,636,047-183,928,551
(GRCh38/hg38)
Size:
292,505 bases
Orientation:
Plus strand
chr1:183,605,208-183,897,666
(GRCh37/hg19)

Genomic View for RGL1 Gene

Genes around RGL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RGL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RGL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RGL1 Gene

Proteins for RGL1 Gene

  • Protein details for RGL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZL6-RGL1_HUMAN
    Recommended name:
    Ral guanine nucleotide dissociation stimulator-like 1
    Protein Accession:
    Q9NZL6
    Secondary Accessions:
    • Q5SXQ2
    • Q5SXQ6
    • Q9HBY3
    • Q9HBY4
    • Q9NZL5
    • Q9UG43
    • Q9Y2G6

    Protein attributes for RGL1 Gene

    Size:
    768 amino acids
    Molecular mass:
    86701 Da
    Quaternary structure:
    • Interacts with Ras.
    SequenceCaution:
    • Sequence=BAA76803.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RGL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RGL1 Gene

Post-translational modifications for RGL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RGL1 Gene

Domains & Families for RGL1 Gene

No data available for UniProtKB/Swiss-Prot for RGL1 Gene

Function for RGL1 Gene

Molecular function for RGL1 Gene

UniProtKB/Swiss-Prot Function:
Probable guanine nucleotide exchange factor.

Phenotypes From GWAS Catalog for RGL1 Gene

Gene Ontology (GO) - Molecular Function for RGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20936779
GO:0008321 Ral guanyl-nucleotide exchange factor activity NAS 10760592
genes like me logo Genes that share ontologies with RGL1: view
genes like me logo Genes that share phenotypes with RGL1: view

Animal Model Products

miRNA for RGL1 Gene

miRTarBase miRNAs that target RGL1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RGL1 Gene

Localization for RGL1 Gene

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 RGL1 gene
Compartment Confidence
cytosol 5
nucleus 4
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RGL1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RGL1 Gene

Pathways & Interactions for RGL1 Gene

genes like me logo Genes that share pathways with RGL1: view

Gene Ontology (GO) - Biological Process for RGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007264 small GTPase mediated signal transduction NAS 10760592
GO:0019216 regulation of lipid metabolic process TAS --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with RGL1: view

No data available for SIGNOR curated interactions for RGL1 Gene

Drugs & Compounds for RGL1 Gene

(3) Drugs for RGL1 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

(1) Additional Compounds for RGL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RGL1: view

Transcripts for RGL1 Gene

Unigene Clusters for RGL1 Gene

Ral guanine nucleotide dissociation stimulator-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RGL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
SP1: - -
SP2:
SP3:

Relevant External Links for RGL1 Gene

GeneLoc Exon Structure for
RGL1
ECgene alternative splicing isoforms for
RGL1

Expression for RGL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RGL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RGL1 Gene

This gene is overexpressed in Blymphocyte (53.5) and Gallbladder (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RGL1 Gene



Protein tissue co-expression partners for RGL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of RGL1 Gene:

RGL1

SOURCE GeneReport for Unigene cluster for RGL1 Gene:

Hs.497148

mRNA Expression by UniProt/SwissProt for RGL1 Gene:

Q9NZL6-RGL1_HUMAN
Tissue specificity: Expressed in a wide variety of tissues with strong expression being seen in the heart, brain, kidney, spleen and testis.

Evidence on tissue expression from TISSUES for RGL1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RGL1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RGL1 Gene

Orthologs for RGL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RGL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RGL1 33 34
  • 97.14 (n)
dog
(Canis familiaris)
Mammalia RGL1 33 34
  • 93.57 (n)
cow
(Bos Taurus)
Mammalia RGL1 34 33
  • 92.28 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RGL1 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rgl1 33 16 34
  • 89.86 (n)
rat
(Rattus norvegicus)
Mammalia Rgl1 33
  • 89.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RGL1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves RGL1 33 34
  • 81.56 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 72 (a)
OneToMany
-- 34
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rgl1 34 33
  • 66.53 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rgl 34 33
  • 48.37 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010782 33
  • 47.22 (n)
worm
(Caenorhabditis elegans)
Secernentea rgl-1 33 34
  • 46.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToMany
Species where no ortholog for RGL1 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)
  • 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 RGL1 Gene

ENSEMBL:
Gene Tree for RGL1 (if available)
TreeFam:
Gene Tree for RGL1 (if available)

Paralogs for RGL1 Gene

(10) SIMAP similar genes for RGL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RGL1: view

Variants for RGL1 Gene

Sequence variations from dbSNP and Humsavar for RGL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_035823 A breast cancer sample p.Tyr174Ser
VAR_035824 A breast cancer sample p.Val699Met
rs1000014628 -- 183,755,796(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000016091 -- 183,785,726(+) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000020277 -- 183,792,564(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RGL1 Gene

Variant ID Type Subtype PubMed ID
esv1709028 CNV insertion 17803354
esv2720140 CNV deletion 23290073
esv3302732 CNV tandem duplication 20981092
esv3588116 CNV loss 21293372
esv3588117 CNV gain 21293372
nsv1133030 OTHER inversion 24896259
nsv441723 CNV gain 18776908
nsv477962 CNV novel sequence insertion 20440878
nsv478839 CNV novel sequence insertion 20440878
nsv525878 CNV gain 19592680
nsv825598 CNV gain 20364138
nsv832015 CNV gain 17160897
nsv832026 CNV gain+loss 17160897

Variation tolerance for RGL1 Gene

Residual Variation Intolerance Score: 6.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RGL1 Gene

Human Gene Mutation Database (HGMD)
RGL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RGL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RGL1 Gene

Disorders for RGL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RGL1 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search RGL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RGL1

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 RGL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RGL1 Gene

Publications for RGL1 Gene

  1. The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. (PMID: 10760592) Sood R … Bonner TI (Biochimica et biophysica acta 2000) 2 3 4 22 58
  2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  3. Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. (PMID: 20360315) Uher R … McGuffin P (The American journal of psychiatry 2010) 3 44 58
  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 44 58
  5. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. (PMID: 18951430) Anney RJ … Gill M (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58

Products for RGL1 Gene

Sources for RGL1 Gene

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