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

Gene ID: 23179, updated on 11-Apr-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 be involved in regulation of catalytic activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in spleen (RPKM 23.7), brain (RPKM 15.5) and 22 other tissues See more
Orthologs
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Genomic context

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Location:
1q25.3
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (183636109..183928532)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182995391..183287882)
105.20220307 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 (18) 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)

Genotypes

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
is_active_in cellular_component ND
No biological Data available
more info
  
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_2023_10

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

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