GAR1 (GAR1 ribonucleoprotein)

Gene

• Entrez ID: 54433
• Gene name: GAR1 ribonucleoprotein
• Gene symbol: GAR1
• Synonyms (NCBI Gene): NOLA1
• Chromosome: 4
• Chromosome location: 4q25
• Summary: This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also incl

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020680	hsa-miR-155-5p	Proteomics	18668040
MIRT022924	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT1012157	hsa-miR-548u	CLIP-seq
MIRT2537087	hsa-miR-1322	CLIP-seq
MIRT2537088	hsa-miR-3156-5p	CLIP-seq
MIRT2537089	hsa-miR-3163	CLIP-seq
MIRT2537090	hsa-miR-3662	CLIP-seq
MIRT2537091	hsa-miR-3665	CLIP-seq
MIRT2537092	hsa-miR-411	CLIP-seq
MIRT2537093	hsa-miR-4325	CLIP-seq
MIRT2537094	hsa-miR-4728-3p	CLIP-seq
MIRT2537095	hsa-miR-4760-5p	CLIP-seq
MIRT2537096	hsa-miR-569	CLIP-seq
MIRT2537097	hsa-miR-628-5p	CLIP-seq
MIRT2537098	hsa-miR-657	CLIP-seq
MIRT2537088	hsa-miR-3156-5p	CLIP-seq
MIRT2537089	hsa-miR-3163	CLIP-seq
MIRT2537090	hsa-miR-3662	CLIP-seq
MIRT2537095	hsa-miR-4760-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000454	Process	SnoRNA guided rRNA pseudouridine synthesis	IBA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	10757788, 18082603, 20351177
GO:0005515	Function	Protein binding	IPI	23685356
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005697	Component	Telomerase holoenzyme complex	IDA	29695869
GO:0005697	Component	Telomerase holoenzyme complex	NAS	20351177
GO:0005697	Component	Telomerase holoenzyme complex	TAS	22527283
GO:0005730	Component	Nucleolus	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869
GO:0007004	Process	Telomere maintenance via telomerase	NAS	20351177
GO:0007004	Process	Telomere maintenance via telomerase	TAS	22527283
GO:0015030	Component	Cajal body	IEA
GO:0031429	Component	Box H/ACA snoRNP complex	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IDA	10757788
GO:0031429	Component	Box H/ACA snoRNP complex	IEA
GO:0031429	Component	Box H/ACA snoRNP complex	TAS	22527283
GO:0034513	Function	Box H/ACA snoRNA binding	IBA
GO:0034513	Function	Box H/ACA snoRNA binding	IPI	10757788
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0070034	Function	Telomerase RNA binding	IPI	10757788, 18082603, 20351177
GO:0072589	Component	Box H/ACA scaRNP complex	TAS	22527283
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	10757788
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 606468
• HGNC: 14264
• e!Ensembl: ENSG00000109534

Protein

• UniProt ID: Q9NY12
• Protein name: H/ACA ribonucleoprotein complex subunit 1 (Nucleolar protein family A member 1) (snoRNP protein GAR1)
• Protein function: Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is
• PDB: 7BGB, 7TRC, 7V9A, 8OUE, 8OUF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04410	Gar1	52 → 169	Gar1/Naf1 RNA binding region	Domain

• Sequence:

  MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGGGRGGFGRGGGRGGFNK
  GQDQGPPERVVLLGEFLHPCEDDIVCKCTTDENKVPYFNAPVYLENKEQIGKVDEIFGQL
  RDFYFSVKLSENMKASSFKKLQKFYIDPYKLLPLQRFLPRPPGEKGPPRGGGRGGRGGGR
  GGGGRGGGRGGGFRGGRGGGGGGFRGGRGGGFRGRGH

• Sequence length: 217

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Reactome:

Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DYSKERATOSIS CONGENITA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAR1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGIC DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMATOLOGICAL DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	39290696	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28666010		★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	16427014, 22117216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	16427014	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	22299032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematological Disease	Hematological Disease	CTD_human_DG	22299032		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	37440454	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	22299032		★☆☆☆☆ Found in Text Mining only