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

Gene ID: 23179, updated on 21-Dec-2019

Summary

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
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
Expression
Ubiquitous expression in spleen (RPKM 23.7), brain (RPKM 15.5) and 22 other tissues See more
Orthologs

Genomic context

See RGL1 in Genome Data Viewer
Location:
1q25.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (183636094..183928543)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183605208..183897666)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NCF2-ARPC5 intergenic ENCODE-defined enhancer Neighboring gene actin related protein 2/3 complex subunit 5 Neighboring gene apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 Neighboring gene T-box transcription factor T pseudogene Neighboring gene collagen beta(1-O)galactosyltransferase 2 Neighboring gene NFE2L2 motif-containing MPRA enhancer 281 Neighboring gene Sharpr-MPRA regulatory region 13835 Neighboring gene tRNA splicing endonuclease subunit 15

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
NHGRI GWA Catalog
Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.
NHGRI GWA 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.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ99278, KIAA0959

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ral guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
small GTPase mediated signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ral guanine nucleotide dissociation stimulator-like 1
Names
ralGDS-like 1

NCBI Reference Sequences (RefSeq)

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_001297669.2NP_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/Swiss-Prot
    Q9NZL6
    UniProtKB/TrEMBL
    B7Z2W5, B7ZB61
    Conserved Domains (3) summary
    cd00153
    Location:646731
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:63194
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:226495
    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_001297670.2NP_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/Swiss-Prot
    Q9NZL6
    UniProtKB/TrEMBL
    B7Z2W5
    Conserved Domains (3) summary
    cd00153
    Location:646731
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:63194
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:226495
    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_001297671.2NP_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
    Q9NZL6
    Related
    ENSP00000354097.3, ENST00000360851.3
    Conserved Domains (3) summary
    cd00153
    Location:648733
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:65196
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:228497
    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_001297672.2NP_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/Swiss-Prot
    Q9NZL6
    UniProtKB/TrEMBL
    B7Z915
    Conserved Domains (3) summary
    cd00153
    Location:619704
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:65196
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:228468
    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_015149.5NP_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/Swiss-Prot
    Q9NZL6
    Related
    ENSP00000303192.3, ENST00000304685.8
    Conserved Domains (3) summary
    cd00153
    Location:683768
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:100231
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:263532
    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: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    183636094..183928543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (3) summary
    smart00229
    Location:100231
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:263532
    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:618683
    UBQ; Ubiquitin-like proteins
  2. XM_011509342.2XP_011507644.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X4

    Conserved Domains (2) summary
    smart00229
    Location:100231
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:263532
    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. XM_011509339.3XP_011507641.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X1

    See identical proteins and their annotated locations for XP_011507641.1

    UniProtKB/Swiss-Prot
    Q9NZL6
    Conserved Domains (3) summary
    cd00153
    Location:683768
    RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
    smart00229
    Location:100231
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:263532
    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. XM_017000756.2XP_016856245.1  ral guanine nucleotide dissociation stimulator-like 1 isoform X3

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