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

Summary

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

Location:: 3p21.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (52685920..52694497)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (52718831..52727408)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (52719936..52728513)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The nucleolar protein GNL3 prevents resection of stalled replication forks.
Title: The nucleolar protein GNL3 prevents resection of stalled replication forks.
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.
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.
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.
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.
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.
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.
Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
Title: Identification of Binding Proteins for TSC22D1 Family Proteins Using Mass Spectrometry.
Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder.
Title: Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder.
RNA binding protein GNL3 up-regulates IL24 and PTN to promote the development of osteoarthritis.
Title: RNA binding protein GNL3 up-regulates IL24 and PTN to promote the development of osteoarthritis.

Submit: New GeneRIF Correction See all GeneRIFs (71)

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 EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association of mood-incongruent psychotic bipolar disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3S2852E (e-PCR)
- UniSTS:2604

RH12841 (e-PCR)
- UniSTS:859

RH25508 (e-PCR)
- UniSTS:87688

IB223 (e-PCR)
- UniSTS:58796

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 more info	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 more info	PubMed
located_in membrane	HDA more info	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

NG_027871.1 RefSeqGene

Range

5113..13578

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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