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    RGL3 ral guanine nucleotide dissociation stimulator like 3 [ Homo sapiens (human) ]

    Gene ID: 57139, updated on 11-Apr-2024

    Summary

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    Official Symbol
    RGL3provided by HGNC
    Official Full Name
    ral guanine nucleotide dissociation stimulator like 3provided by HGNC
    Primary source
    HGNC:HGNC:30282
    See related
    Ensembl:ENSG00000205517 MIM:616743; AllianceGenome:HGNC:30282
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in positive regulation of GTPase activity and small GTPase mediated signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 19.9), kidney (RPKM 13.4) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11394060..11419314, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11521038..11546286, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11504736..11529990, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14012 Neighboring gene SWIM-type zinc finger 7 associated protein 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11492093-11492630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10110 Neighboring gene erythropoietin receptor Neighboring gene ReSE screen-validated silencer GRCh37_chr19:11514342-11514533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11516407-11517358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10111 Neighboring gene outer dynein arm docking complex subunit 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:11546061-11546560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14018 Neighboring gene uncharacterized LOC124904800 Neighboring gene PRKCSH beta subunit of glucosidase II

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article
    2. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Talmud PJ, et al. Am J Hum Genet, 2009 Nov. PMID 19913121, Free PMC Article
    3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: EPOR

    Homology

    Clone Names

    • FLJ00153, FLJ32585, FLJ44275, MGC126805, MGC138163

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ral guanine nucleotide dissociation stimulator-like 3
    Names
    RalGEF-like protein 3, mouse homolog
    ralGDS-like 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001035223.4 → NP_001030300.3  ral guanine nucleotide dissociation stimulator-like 3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      BC101756, BC143530, BM992649
      Consensus CDS
      CCDS32910.1
      UniProtKB/Swiss-Prot
      A0A0A0MRX4, B5ME84, B7ZL22, Q0P6G0, Q3MIN7
      Related
      ENSP00000369823.3, ENST00000380456.8
      Conserved Domains (3) summary
      cd06224
      Location:74 → 196
      REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
      cd00153
      Location:613 → 698
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00147
      Location:243 → 505
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

    2. NM_001161616.3 → NP_001155088.2  ral guanine nucleotide dissociation stimulator-like 3 isoform 1

      See identical proteins and their annotated locations for NP_001155088.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC143530, BM992649
      Consensus CDS
      CCDS54221.1
      Related
      ENSP00000377075.3, ENST00000393423.7
      Conserved Domains (3) summary
      cd06224
      Location:74 → 196
      REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
      cd00153
      Location:619 → 704
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00147
      Location:243 → 505
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11394060..11419314 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11521038..11546286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3MIN7.3 GenPept UniProtKB/Swiss-Prot:Q3MIN7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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