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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
GAR1-related disorder	Likely benign	rs765203160	RCV003959588
Ovarian cancer	Likely benign	rs765203160	RCV005871435

Associations from Text Mining
Disease Name	Relationship Type	References
Cerebral Infarction	Associate	39290696
Dyskeratosis Congenita	Associate	16427014
Leukemia Lymphocytic Chronic B Cell	Associate	28666010
Telomeric 22q13 Monosomy Syndrome	Associate	37440454