GNL1 G protein nucleolar 1 (putative) [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNL1provided by HGNC
Official Full Name: G protein nucleolar 1 (putative)provided by HGNC
Primary source: HGNC:HGNC:4413
See related: Ensembl:ENSG00000204590 MIM:143024; AllianceGenome:HGNC:4413
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: HSR1
Summary: The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 17.9), testis (RPKM 13.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (30541381..30556489, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (30405556..30420665, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (30509158..30524266, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade.
Title: Guanine nucleotide binding protein like-1 (GNL1) promotes cancer cell proliferation and survival through AKT/p21 (CIP1) signaling cascade.
cross-talk between GNL1 and RPS20 is critical to promote cell proliferation.
Title: Interplay between human nucleolar GNL1 and RPS20 is critical to modulate cell proliferation.
The results suggested that SNPs at PRR3 and ABCF1 genes and the haplotype composed by SNPs at GNL1 and PRR3 between the HLA-A and HLA-C genes tended to predict Graves ophthalmology in a gender-dependent manner in patients with Graves Disease in Taiwan.
Title: Single nucleotide polymorphisms at the PRR3, ABCF1, and GNL1 genes in the HLA class I region are associated with Graves' ophthalmopathy in a gender-dependent manner.
The results demonstrated that multiple mechanisms are involved in the translocation of GNL1 to the nucleolus in a cell cycle-dependent manner to regulate cell growth and proliferation.
Title: Subcellular distribution of the human putative nucleolar GTPase GNL1 is regulated by a novel arginine/lysine-rich domain and a GTP binding domain in a cell cycle-dependent manner.
Observational study of gene-disease association. (HuGE Navigator)
Title: HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17348 (e-PCR)
- UniSTS:6979

SHGC-79132 (e-PCR)
- UniSTS:95822

RH46746 (e-PCR)
- UniSTS:10336

SHGC-172549 (e-PCR)
- UniSTS:184451

2186 (e-PCR)
- UniSTS:26787

RH46605 (e-PCR)
- UniSTS:57057

WI-13727 (e-PCR)
- UniSTS:28645

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	NAS Non-traceable Author Statement more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell mediated immunity	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: guanine nucleotide-binding protein-like 1

Names: GTP-binding protein HSR1; HSR1 GTP-binding protein

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)

NM_005275.5 → NP_005266.2 guanine nucleotide-binding protein-like 1

See identical proteins and their annotated locations for NP_005266.2

Status: VALIDATED

Source sequence(s)

AL662800

Consensus CDS

CCDS4680.1

UniProtKB/Swiss-Prot

B0S838, P36915, Q96CT5

UniProtKB/TrEMBL

A0A024RCR2, A0A1U9X7R2

Related

ENSP00000365806.3, ENST00000376621.8

Conserved Domains (2) summary

cd01857
Location:177 → 418

HSR1_MMR1; A circularly permuted subfamily of the Ras GTPases

cl26335
Location:170 → 514

RbgA; Ribosome biogenesis GTPase A [Translation, ribosomal structure and biogenesis]