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

Gene ID: 54552, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (54530219..54645854)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (53821079..53936915)
105.20220307 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
  • 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. 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
  2. GNL3L Is a Nucleo-Cytoplasmic Shuttling Protein: Role in Cell Cycle Regulation. Thoompumkal IJ, et al. PLoS One, 2015. PMID 26274615, Free PMC Article
  3. 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
  4. Continual expression throughout the cell cycle and downregulation upon adipogenic differentiation makes nucleostemin a vital human MSC proliferation marker. Oktar PA, et al. Stem Cell Rev Rep, 2011 Jun. PMID 21063916
  5. 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

See all (72) 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-ÎşB) 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_2023_10

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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