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    RGL1 ral guanine nucleotide dissociation stimulator like 1 [ Homo sapiens (human) ]

    Gene ID: 23179, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RGL1provided by HGNC
    Official Full Name
    ral guanine nucleotide dissociation stimulator like 1provided by HGNC
    Primary source
    HGNC:HGNC:30281
    See related
    Ensembl:ENSG00000143344 MIM:605667; AllianceGenome:HGNC:30281
    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
    Also known as
    RGL
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytosol. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 23.7), brain (RPKM 15.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RGL1 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (183636109..183928532)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182995391..183287882)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183605244..183897666)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183568525-183569024 Neighboring gene Sharpr-MPRA regulatory region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2220 Neighboring gene NCF2-ARPC5 intergenic ENCODE-defined enhancer Neighboring gene neutrophil cytosolic factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183604114-183604614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2221 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1635 Neighboring gene Sharpr-MPRA regulatory region 5056 Neighboring gene actin related protein 2/3 complex subunit 5 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183653331-183653832 Neighboring gene T-box transcription factor T pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183692952-183693452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2225 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2228 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:183887920-183888109 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:183914777-183915619 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:183913934-183914776 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:183924966-183925130 Neighboring gene collagen beta(1-O)galactosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2229 Neighboring gene NFE2L2 motif-containing MPRA enhancer 281 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:183993995-183994734 Neighboring gene Sharpr-MPRA regulatory region 12313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1636 Neighboring gene Sharpr-MPRA regulatory region 13835 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:184037463-184038001 Neighboring gene tRNA splicing endonuclease subunit 15

    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. The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization. Sood R, et al. Biochim Biophys Acta, 2000 Apr 25. PMID 10760592
    2. Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant. Eves BJ, et al. J Mol Biol, 2022 May 15. PMID 35257782
    3. Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. Uher R, et al. Am J Psychiatry, 2010 May. PMID 20360315
    4. Integrated RAS signaling defined by parallel NMR detection of effectors and regulators. Smith MJ, et al. Nat Chem Biol, 2014 Mar. PMID 24441586
    5. Biochemical characterization of the Ras-related GTPases Rit and Rin. Shao H, et al. Arch Biochem Biophys, 1999 Nov 15. PMID 10545207

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant.
      Title: Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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

    EBI GWAS Catalog

    Description
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog
    Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ99278, KIAA0959

    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 guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    involved_in small GTPase-mediated signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 1
    Names
    ralGDS-like 1

    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_001297669.3 → NP_001284598.1  ral guanine nucleotide dissociation stimulator-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001284598.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AB023176, AF186780, AK316526, BF197850, DC333918
      UniProtKB/TrEMBL
      B7Z2W5, B7ZB61
      Conserved Domains (3) summary
      cd00153
      Location:646 → 731
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:63 → 194
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:226 → 495
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    2. NM_001297670.3 → NP_001284599.1  ral guanine nucleotide dissociation stimulator-like 1 isoform 2

      See identical proteins and their annotated locations for NP_001284599.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. Variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      AB023176, AK295179, BF197850, DC333918
      UniProtKB/TrEMBL
      B7Z2W5, B7ZB61
      Conserved Domains (3) summary
      cd00153
      Location:646 → 731
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:63 → 194
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:226 → 495
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    3. NM_001297671.3 → NP_001284600.1  ral guanine nucleotide dissociation stimulator-like 1 isoform 3

      See identical proteins and their annotated locations for NP_001284600.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB023176, AK311716, BF197850
      Consensus CDS
      CCDS72992.1
      UniProtKB/Swiss-Prot
      Q5SXQ2, Q5SXQ6, Q9HBY3, Q9HBY4, Q9NZL5, Q9NZL6, Q9UG43, Q9Y2G6
      UniProtKB/TrEMBL
      B7Z915
      Related
      ENSP00000354097.3, ENST00000360851.4
      Conserved Domains (3) summary
      cd00153
      Location:648 → 733
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:65 → 196
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:228 → 497
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    4. NM_001297672.3 → NP_001284601.1  ral guanine nucleotide dissociation stimulator-like 1 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and an in-frame exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AB023176, AK304293, AK311716, BF197850
      UniProtKB/TrEMBL
      B7Z915
      Conserved Domains (3) summary
      cd00153
      Location:619 → 704
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:65 → 196
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:228 → 468
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    5. NM_015149.6 → NP_055964.3  ral guanine nucleotide dissociation stimulator-like 1 isoform 1

      See identical proteins and their annotated locations for NP_055964.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB023176, AF186780, BF197850
      Consensus CDS
      CCDS1359.1
      UniProtKB/TrEMBL
      Q7Z3U6
      Related
      ENSP00000303192.3, ENST00000304685.8
      Conserved Domains (3) summary
      cd00153
      Location:683 → 768
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:100 → 231
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:263 → 532
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      183636109..183928532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509339.4 → XP_011507641.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X1

      See identical proteins and their annotated locations for XP_011507641.1

      UniProtKB/TrEMBL
      Q7Z3U6
      Conserved Domains (3) summary
      cd00153
      Location:683 → 768
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00229
      Location:100 → 231
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:263 → 532
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    2. XM_047415682.1 → XP_047271638.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X2

    3. XM_047415687.1 → XP_047271643.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X4

    4. XM_011509341.2 → XP_011507643.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X2

      UniProtKB/TrEMBL
      Q7Z3U6
      Conserved Domains (3) summary
      smart00229
      Location:100 → 231
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:263 → 532
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...
      cl00155
      Location:618 → 683
      UBQ; Ubiquitin-like proteins

    5. XM_047415686.1 → XP_047271642.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X4

    6. XM_011509342.3 → XP_011507644.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X5

      Conserved Domains (2) summary
      smart00229
      Location:100 → 231
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      cd00155
      Location:263 → 532
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

    7. XM_047415677.1 → XP_047271633.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X1

    8. XM_017000756.3 → XP_016856245.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X3

      UniProtKB/TrEMBL
      B7Z915

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      182995391..183287882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335365.1 → XP_054191340.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X1

    2. XM_054335368.1 → XP_054191343.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X2

    3. XM_054335371.1 → XP_054191346.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X4

    4. XM_054335367.1 → XP_054191342.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X2

    5. XM_054335370.1 → XP_054191345.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X4

    6. XM_054335372.1 → XP_054191347.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X5

    7. XM_054335366.1 → XP_054191341.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X1

    8. XM_054335369.1 → XP_054191344.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NZL6.1 GenPept UniProtKB/Swiss-Prot:Q9NZL6

    Gene LinkOut

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

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