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    GNL3L G protein nucleolar 3 like [ Homo sapiens (human) ]

    Gene ID: 54552, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GNL3Lprovided by HGNC
    Official Full Name
    G protein nucleolar 3 likeprovided by HGNC
    Primary source
    HGNC:HGNC:25553
    See related
    Ensembl:ENSG00000130119 MIM:300873; AllianceGenome:HGNC:25553
    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
    GNL3B
    Summary
    The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.6), appendix (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GNL3L in Genome Data Viewer
    Location:
    Xp11.22
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54530219..54645854)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (53821079..53936915)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (54556652..54593722)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene WNK lysine deficient protein kinase 3 Neighboring gene RNA, U6 small nuclear 434, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:54415213-54415877 Neighboring gene MPRA-validated peak7383 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29670 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54505803-54506356 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20864 Neighboring gene TSR2 ribosome maturation factor Neighboring gene FYVE, RhoGEF and PH domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54556053-54556573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29673 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:54665616-54666141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29675 Neighboring gene phosphoglycerate mutase family member 4 pseudogene 1 Neighboring gene inter-alpha-trypsin inhibitor heavy chain family member 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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    Related articles in PubMed

    1. GNL3L promotes autophagy via regulating AMPK signaling in esophageal cancer cells. He W, et al. Med Oncol, 2023 Dec 26. PMID 38148364
    2. High expression of guanine nucleotide-binding protein-like-3-like is associated with poor prognosis in esophageal cancer. Dai G, et al. Medicine (Baltimore), 2021 May 28. PMID 34032716, Free PMC Article
    3. A novel lysine-rich domain and GTP binding motifs regulate the nucleolar retention of human guanine nucleotide binding protein, GNL3L. Rao MR, et al. J Mol Biol, 2006 Dec 8. PMID 17034816
    4. GNL3L Is a Nucleo-Cytoplasmic Shuttling Protein: Role in Cell Cycle Regulation. Thoompumkal IJ, et al. PLoS One, 2015. PMID 26274615, Free PMC Article
    5. Nucleostemin and GNL3L exercise distinct functions in genome protection and ribosome synthesis, respectively. Lin T, et al. J Cell Sci, 2014 May 15. PMID 24610951, Free PMC Article

    See all (89) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GNL3L promotes autophagy via regulating AMPK signaling in esophageal cancer cells.
      Title: GNL3L promotes autophagy via regulating AMPK signaling in esophageal cancer cells.
    2. Knockdown of GNL3L Alleviates the Progression of COPD Through Inhibiting the ATM/p53 Pathway.
      Title: Knockdown of GNL3L Alleviates the Progression of COPD Through Inhibiting the ATM/p53 Pathway.
    3. High expression of guanine nucleotide-binding protein-like-3-like is associated with poor prognosis in esophageal cancer.
      Title: High expression of guanine nucleotide-binding protein-like-3-like is associated with poor prognosis in esophageal cancer.
    4. GNL3L-LDOC1 interplay regulates cell proliferation through the modulation of NF-kappaB pathway during tumorigenesis.
      Title: Leucine Zipper Down-regulated in Cancer-1 (LDOC1) interacts with Guanine nucleotide binding protein-like 3-like (GNL3L) to modulate Nuclear Factor-kappa B (NF-κB) signaling during cell proliferation.
    5. the present study provides evidence that GNL3L is exported from the nucleus in CRM1 dependent manner and the nuclear localization of GNL3L is important to promote 'S' phase progression during cell proliferation.
      Title: GNL3L Is a Nucleo-Cytoplasmic Shuttling Protein: Role in Cell Cycle Regulation.
    6. GNL3L depletion impairs ribosome production without inducing appreciable DNA damage. During evolution, GNL3L retained the role of the ancestral gene in ribosome biosynthesis, whereas the paralogous nucleostemin acquired a novel genome-protective function.
      Title: Nucleostemin and GNL3L exercise distinct functions in genome protection and ribosome synthesis, respectively.
    7. differences in the relative nucleostemin protein and mRNA levels may reflect the degree of proliferation of mesnchymal stem cells and can be used to characterize in vitro expansion capabilities
      Title: Continual expression throughout the cell cycle and downregulation upon adipogenic differentiation makes nucleostemin a vital human MSC proliferation marker.
    8. GNL3L bound MDM2 in vivo, stabilizing MDM2 and preventing its ubiquitylation. GNL3L depletion upregulated specific p53 targets (Bax, 14-3-3sigma and p21).
      Title: GNL3L depletion destabilizes MDM2 and induces p53-dependent G2/M arrest.
    9. analysis uncovers an important role for Grn1p/GNL3L within this unique group of nucleolar GTPases
      Title: The homologous putative GTPases Grn1p from fission yeast and the human GNL3L are required for growth and play a role in processing of nucleolar pre-rRNA.
    10. GNL3L is composed of distinct modules, each of which plays a specific role in molecular interactions for its nucleolar retention and subsequent function(s) within the nucleolus
      Title: A novel lysine-rich domain and GTP binding motifs regulate the nucleolar retention of human guanine nucleotide binding protein, GNL3L.
    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10613

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein sumoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of protein ubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of telomere maintenance via telomerase IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein localization to chromosome, telomeric region IDA
    Inferred from Direct Assay
    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-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of protein stability IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in ribosome biogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    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 nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of telomerase holoenzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    guanine nucleotide-binding protein-like 3-like protein
    Names
    G protein nucleolar 3B
    guanine nucleotide binding protein-like 3 (nucleolar)-like
    novel GTPase

    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_021314.2 RefSeqGene

      Range
      5002..42072
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001184819.2 → NP_001171748.1  guanine nucleotide-binding protein-like 3-like protein

      See identical proteins and their annotated locations for NP_001171748.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK001475, AL391139, BC003603, BQ674906
      Consensus CDS
      CCDS14360.1
      UniProtKB/Swiss-Prot
      Q9NVN8
      UniProtKB/TrEMBL
      A0A6I8PL80
      Related
      ENSP00000354091.2, ENST00000360845.3
      Conserved Domains (2) summary
      cd04178
      Location:136 → 307
      Nucleostemin_like; A circularly permuted subfamily of the Ras GTPases
      COG3596
      Location:251 → 405
      YeeP; Predicted GTPase [General function prediction only]

    2. NM_019067.6 → NP_061940.1  guanine nucleotide-binding protein-like 3-like protein

      See identical proteins and their annotated locations for NP_061940.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK001475, AL391139, BQ674906
      Consensus CDS
      CCDS14360.1
      UniProtKB/Swiss-Prot
      Q9NVN8
      UniProtKB/TrEMBL
      A0A6I8PL80
      Related
      ENSP00000338573.4, ENST00000336470.8
      Conserved Domains (2) summary
      cd04178
      Location:136 → 307
      Nucleostemin_like; A circularly permuted subfamily of the Ras GTPases
      COG3596
      Location:251 → 405
      YeeP; Predicted GTPase [General function prediction only]

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      54530219..54645854
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442190.1 → XP_047298146.1  guanine nucleotide-binding protein-like 3-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q9NVN8
      Related
      ENSP00000501452.1, ENST00000674311.1

    2. XM_047442189.1 → XP_047298145.1  guanine nucleotide-binding protein-like 3-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q9NVN8
      Related
      ENSP00000501411.1, ENST00000674498.1

    RNA

    1. XR_007068190.1 RNA Sequence

    2. XR_007068191.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      53821079..53936915
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327276.1 → XP_054183251.1  guanine nucleotide-binding protein-like 3-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q9NVN8

    2. XM_054327275.1 → XP_054183250.1  guanine nucleotide-binding protein-like 3-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q9NVN8

    3. XM_054327274.1 → XP_054183249.1  guanine nucleotide-binding protein-like 3-like protein isoform X1

      UniProtKB/Swiss-Prot
      Q9NVN8

    RNA

    1. XR_008485483.1 RNA Sequence

    2. XR_008485484.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVN8.1 GenPept UniProtKB/Swiss-Prot:Q9NVN8

    Gene LinkOut

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

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