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    DRG1 developmentally regulated GTP binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 4733, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DRG1provided by HGNC
    Official Full Name
    developmentally regulated GTP binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3029
    See related
    Ensembl:ENSG00000185721 MIM:603952; AllianceGenome:HGNC:3029
    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
    NEDD3; TANALS
    Summary
    Enables several functions, including GTPase activity; identical protein binding activity; and potassium ion binding activity. Involved in positive regulation of microtubule polymerization and regulation of mitotic spindle assembly. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 112.9), thyroid (RPKM 23.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DRG1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (31399604..31434452)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31864208..31899052)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (31795590..31830438)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13630 Neighboring gene long intergenic non-protein coding RNA 1521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:31795617-31796522 Neighboring gene RNA, U6 small nuclear 338, pseudogene Neighboring gene eukaryotic translation initiation factor 4E nuclear import factor 1 Neighboring gene H3K27ac hESC enhancers GRCh37_chr22:31885137-31885760 and GRCh37_chr22:31885761-31886383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18858 Neighboring gene RNA, U6 small nuclear 28, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13635 Neighboring gene SFI1 centrin binding protein Neighboring gene H2A.Z histone pseudogene 6

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
      Title: Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.
    2. Structure and function of cancer-related developmentally regulated GTP-binding protein 1 (DRG1) is conserved between sponges and humans.
      Title: Structure and function of cancer-related developmentally regulated GTP-binding protein 1 (DRG1) is conserved between sponges and humans.
    3. DRG1 Maintains Intestinal Epithelial Cell Junctions and Barrier Function by Regulating RAC1 Activity in Necrotizing Enterocolitis.
      Title: DRG1 Maintains Intestinal Epithelial Cell Junctions and Barrier Function by Regulating RAC1 Activity in Necrotizing Enterocolitis.
    4. Developmentally regulated GTPases: structure, function and roles in disease.
      Title: Developmentally regulated GTPases: structure, function and roles in disease.
    5. m6A-dependent up-regulation of DRG1 by METTL3 and ELAVL1 promotes growth, migration, and colony formation in osteosarcoma.
      Title: m6A-dependent up-regulation of DRG1 by METTL3 and ELAVL1 promotes growth, migration, and colony formation in osteosarcoma.
    6. In vitro, DRG1 can diffuse on microtubules, promote their polymerization, drive microtubule formation into bundles, and stabilize microtubules. HeLa cells with reduced DRG1 levels show delayed progression from prophase to anaphase because spindle formation is slowed down.
      Title: Developmentally Regulated GTP binding protein 1 (DRG1) controls microtubule dynamics.
    7. DRG1 was an important protein involved in spindle checkpoint signaling, and elevated levels of DRG1 caused lung adenocarcinoma and taxol resistance.
      Title: DRG1 is a potential oncogene in lung adenocarcinoma and promotes tumor progression via spindle checkpoint signaling regulation.
    8. DRG-1 plays an important role in melanoma cell growth and transformation, indicating that DRG1 may represent a novel target for CD4(+) T cell-mediated immunotherapy in melanoma.
      Title: Identification of DRG-1 As a Melanoma-Associated Antigen Recognized by CD4+ Th1 Cells.
    9. Lerepo4 action leaves Drg1 affinity for nucleotides unaffected, feasibly favoring a switch I reorientation, mainly via the TGS domain.
      Title: Human Drg1 is a potassium-dependent GTPase enhanced by Lerepo4.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: A common variant in DRD3 receptor is associated with autism spectrum disorder.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    Associated conditions

    Description Tests
    Tan-Almurshedi syndrome
    MedGen: C5882727 OMIM: 620641 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify developmentally regulated GTP binding protein 1 (DRG1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify developmentally regulated GTP binding protein 1 (DRG1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify developmentally regulated GTP binding protein 1 (DRG1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify developmentally regulated GTP binding protein 1 (DRG1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434N1827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables membrane scission GTPase motor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables potassium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cytoplasmic translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    developmentally-regulated GTP-binding protein 1
    Names
    DRG-1
    NEDD-3
    TRAFAC GTPase DRG1
    neural precursor cell expressed developmentally down-regulated protein 3
    neural precursor cell expressed, developmentally down-regulated 3
    translation factor GTPase DRG1
    NP_004138.1

    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_004147.4 → NP_004138.1  developmentally-regulated GTP-binding protein 1

      See identical proteins and their annotated locations for NP_004138.1

      Status: VALIDATED

      Source sequence(s)
      AL096701, BC019285, BU584654
      Consensus CDS
      CCDS13897.1
      UniProtKB/Swiss-Prot
      B2RDS8, Q6FGP8, Q8WW69, Q9UGF2, Q9Y295
      Related
      ENSP00000329715.4, ENST00000331457.9
      Conserved Domains (1) summary
      COG1163
      Location:1 → 367
      Rbg1; Ribosome-interacting GTPase 1 [Translation, ribosomal structure and biogenesis]

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      31399604..31434452
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      31864208..31899052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y295.1 GenPept UniProtKB/Swiss-Prot:Q9Y295

    Gene LinkOut

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

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