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    GNL3 G protein nucleolar 3 [ Homo sapiens (human) ]

    Gene ID: 26354, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GNL3provided by HGNC
    Official Full Name
    G protein nucleolar 3provided by HGNC
    Primary source
    HGNC:HGNC:29931
    See related
    Ensembl:ENSG00000163938 MIM:608011; AllianceGenome:HGNC:29931
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NS; Nug1; E2IG3; NNP47; C77032
    Summary
    The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 35.8), prostate (RPKM 32.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNL3 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52685920..52694497)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52718831..52727408)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52719936..52728513)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 856, pseudogene Neighboring gene RNA, U6atac small nuclear 16, pseudogene Neighboring gene polybromo 1 Neighboring gene MPRA-validated peak4655 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52699923-52700424 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52700425-52700924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19944 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52719523-52720211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19945 Neighboring gene small nucleolar RNA, C/D box 136 Neighboring gene small nucleolar RNA, C/D box 19B Neighboring gene small nucleolar RNA, C/D box 19C Neighboring gene small nucleolar RNA, C/D box 19 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14452 Neighboring gene small nucleolar RNA, C/D box 69 Neighboring gene glycosyltransferase 8 domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52749367-52749954 Neighboring gene signal peptidase complex subunit 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:52765581-52766780 Neighboring gene zinc finger protein 610 pseudogene Neighboring gene NIMA related kinase 4

    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. Proteomic Investigation of the Role of Nucleostemin in Nucleophosmin-Mutated OCI-AML 3 Cell Line. Cela I, et al. Int J Mol Sci, 2022 Jul 11. PMID 35886999, Free PMC Article
    2. Gene profiling after knocking-down expression of nucleostemin in Hela cells using oligonucleotide DNA microarray. Liu SJ, et al. J Exp Clin Cancer Res, 2006 Dec. PMID 17310849
    3. Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder. Meng Q, et al. Mol Psychiatry, 2020 Nov. PMID 32826963
    4. Association of a murine leukaemia stem cell gene signature based on nucleostemin promoter activity with prognosis of acute myeloid leukaemia in patients. Ali MA, et al. Biochem Biophys Res Commun, 2014 Jul 18. PMID 24960197
    5. Comparison of nucleostemin gene expression in CD133+ and CD133- cell population in colon cancer cell line HT29. Zia-Jahromi N, et al. J Cancer Res Ther, 2014 Jan-Mar. PMID 24762489

    See all (273) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockdown of GNL3 inhibits LUAD cell growth by regulating Wnt-beta-catenin pathway.
      Title: Knockdown of GNL3 inhibits LUAD cell growth by regulating Wnt-β-catenin pathway.
    2. The nucleolar protein GNL3 prevents resection of stalled replication forks.
      Title: The nucleolar protein GNL3 prevents resection of stalled replication forks.
    3. Common variants in GNL3 gene contributed the susceptibility of hand osteoarthritis in Han Chinese population.
      Title: Common variants in GNL3 gene contributed the susceptibility of hand osteoarthritis in Han Chinese population.
    4. Proteomic Investigation of the Role of Nucleostemin in Nucleophosmin-Mutated OCI-AML 3 Cell Line.
      Title: Proteomic Investigation of the Role of Nucleostemin in Nucleophosmin-Mutated OCI-AML 3 Cell Line.
    5. Association of Nucleostemin Polymorphisms with Chronic Hepatitis B Virus Infection in Chinese Han Population.
      Title: Association of Nucleostemin Polymorphisms with Chronic Hepatitis B Virus Infection in Chinese Han Population.
    6. Nucleostemin upregulation and STAT3 activation as early events in oral epithelial dysplasia progression to squamous cell carcinoma.
      Title: Nucleostemin upregulation and STAT3 activation as early events in oral epithelial dysplasia progression to squamous cell carcinoma.
    7. RNA-seq reveal RNA binding protein GNL3 as a key mediator in the development of psoriasis vulgaris by regulating the IL23/IL17 axis.
      Title: RNA-seq reveal RNA binding protein GNL3 as a key mediator in the development of psoriasis vulgaris by regulating the IL23/IL17 axis.
    8. G protein nucleolar 3 promotes Non-Hodgkin lymphoma progression by activating the Wnt/beta-catenin signaling pathway.
      Title: G protein nucleolar 3 promotes Non-Hodgkin lymphoma progression by activating the Wnt/β-catenin signaling pathway.
    9. Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
      Title: Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
    10. Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder.
      Title: Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder.
    Submit: New GeneRIF Correction See all GeneRIFs (72)

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog
    Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog
    Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human guanine nucleotide binding protein-like 3 (GNL3) at amino acid residues 509-510 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • MGC800

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA binding HDA PubMed 
    enables mRNA 5'-UTR 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 positive regulation of miRNA transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to chromosome, telomeric region IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein sumoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in stem cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in stem cell population maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular space HDA PubMed 
    located_in membrane HDA PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleolus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein-like 3
    Names
    E2-induced gene 3 protein
    estradiol-induced nucleotide binding protein
    guanine nucleotide binding protein-like 3 (nucleolar)
    novel nucleolar protein 47
    nucleolar GTP-binding protein 3
    nucleostemin

    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.

    Genomic

    1. NG_027871.1 RefSeqGene

      Range
      5113..13578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_014366.5 → NP_055181.3  guanine nucleotide-binding protein-like 3 isoform 1

      See identical proteins and their annotated locations for NP_055181.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI028402, AK027514, BC001024, CF272475
      Consensus CDS
      CCDS2861.1
      UniProtKB/Swiss-Prot
      B2RDC1, Q5PU80, Q96SV6, Q96SV7, Q9BVP2, Q9UJY0
      Related
      ENSP00000395772.1, ENST00000418458.6
      Conserved Domains (3) summary
      cd04178
      Location:142 → 307
      Nucleostemin_like; A circularly permuted subfamily of the Ras GTPases
      COG1161
      Location:133 → 419
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]
      pfam08701
      Location:16 → 85
      GN3L_Grn1; GNL3L/Grn1 putative GTPase

    2. NM_206825.2 → NP_996561.1  guanine nucleotide-binding protein-like 3 isoform 2

      See identical proteins and their annotated locations for NP_996561.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AF191018, AK027514
      Consensus CDS
      CCDS43100.1
      Related
      ENSP00000378278.2, ENST00000394799.6
      Conserved Domains (3) summary
      cd04178
      Location:130 → 295
      Nucleostemin_like; A circularly permuted subfamily of the Ras GTPases
      COG1161
      Location:121 → 407
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]
      pfam08701
      Location:4 → 73
      GN3L_Grn1; GNL3L/Grn1 putative GTPase

    3. NM_206826.1 → NP_996562.1  guanine nucleotide-binding protein-like 3 isoform 2

      See identical proteins and their annotated locations for NP_996562.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
      Source sequence(s)
      AF191018, AK027514, BC001024, BF732788
      Consensus CDS
      CCDS43100.1
      Conserved Domains (3) summary
      cd04178
      Location:130 → 295
      Nucleostemin_like; A circularly permuted subfamily of the Ras GTPases
      COG1161
      Location:121 → 407
      RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]
      pfam08701
      Location:4 → 73
      GN3L_Grn1; GNL3L/Grn1 putative GTPase

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52685920..52694497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52718831..52727408
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVP2.2 GenPept UniProtKB/Swiss-Prot:Q9BVP2

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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