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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GAR1
GAR1 ribonucleoprotein
Chromosome 4 · 4q25
NCBI Gene: 54433Ensembl: ENSG00000109534.18HGNC: HGNC:14264UniProt: Q9NY12
138PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosome, telomeric regionRNA bindingprotein bindingbox H/ACA snoRNA bindingneurodegenerative diseaseprostate carcinomacolor vision disorderchronic lymphocytic leukemia
✦AI Summary

GAR1 (GAR1 ribonucleoprotein) is an essential component of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of ribosomal RNA 1. As one of four core proteins in the H/ACA complex alongside Cbf5, Nop10, and Nhp2, GAR1 plays a critical structural role in RNA-guided pseudouridylation, enabling the isomerization of uridine residues in rRNA 2. Each rRNA can contain up to 100 pseudouridine residues that stabilize rRNA conformation and function 1. Beyond ribosome biogenesis, GAR1 is required for telomere maintenance as a component of telomerase-associated H/ACA complexes and contains a SUMO-interacting motif essential for proper dyskerin localization and telomerase RNA interaction 3. Recent evidence demonstrates that the H/ACA snoRNA snR30, bound by the Cbf5-Gar1-Nop10-Nhp2 complex, coordinates independent assembly of the pre-18S rRNA central domain during early ribosome biogenesis 4. GAR1 also interacts with SMN protein, suggesting involvement in snoRNP biogenesis and metabolism 5. Mutations affecting GAR1-containing complexes are implicated in dyskeratosis congenita, a telomere maintenance disorder 6, highlighting its clinical significance in human disease.

Sources cited
1
GAR1 is a core protein of H/ACA snoRNP complexes that catalyzes pseudouridylation, and pseudouridine modifications cluster in important rRNA regions
PMID: 28601221
2
GAR1 structure and its essential role in RNA-guided pseudouridylation and dyskeratosis congenita mutations
PMID: 16427014
3
GAR1 contains a SUMO-interacting motif that mediates dyskerin interaction and is essential for proper subcellular localization and telomerase RNA binding
PMID: 33526451
4
The H/ACA snoRNA snR30 bound by Cbf5-Gar1-Nop10-Nhp2 coordinates assembly of the pre-18S rRNA central domain
PMID: 40399280
5
GAR1 directly interacts with SMN protein, suggesting a function in snoRNP assembly and metabolism
PMID: 11509230
6
GAR1 interaction with Shq1 and Cbf5 is relevant to H/ACA RNP biogenesis and dyskeratosis congenita pathogenesis
PMID: 22117216
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
prostate carcinomaOpen Targets
0.27Weak
color vision disorderOpen Targets
0.03Suggestive
chronic lymphocytic leukemiaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
Wilson diseaseOpen Targets
0.01Suggestive
dyskeratosis congenitaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
acquired aplastic anemiaOpen Targets
0.01Suggestive
spinal muscular atrophyOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
anemiaOpen Targets
0.00Suggestive
autismOpen Targets
0.00Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
liver and intrahepatic bile duct neoplasmOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Neoplasm of the liverOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SNRPBProtein interaction100%SNRPEProtein interaction100%RRP9Protein interaction100%NOP56Protein interaction100%NOP58Protein interaction100%SNU13Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
57%
Ovary
40%
Liver
38%
Lung
27%
Heart
24%
Gene Interaction Network
Click a node to explore
GAR1SNRPBSNRPERRP9NOP56NOP58SNU13
PROTEIN STRUCTURE
Preparing viewer…
PDB8OUE · 2.70 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.16Tolerant
Observed/Expected LoF0.50 [0.24–1.14]
RankingsWhere GAR1 stands among ~20K protein-coding genes
  • #3,336of 20,598
    Most Researched138 · top quartile
  • #11,764of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedGAR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Posttranscriptional RNA Pseudouridylation.
PMID: 28601221
Enzymes · 2017
1.00
2
cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel.
PMID: 7590744
Genomics · 1995
0.90
3
H/ACA snR30 snoRNP guides independent 18S rRNA subdomain formation.
PMID: 40399280
Nat Commun · 2025
0.80
4
SUMOylation- and GAR1-Dependent Regulation of Dyskerin Nuclear and Subnuclear Localization.
PMID: 33526451
Mol Cell Biol · 2021
0.70
5
Structure of the Shq1-Cbf5-Nop10-Gar1 complex and implications for H/ACA RNP biogenesis and dyskeratosis congenita.
PMID: 22117216
EMBO J · 2011
0.60