Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54433
Gene name Gene Name - the full gene name approved by the HGNC.	GAR1 ribonucleoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GAR1
Synonyms (NCBI Gene) Gene synonyms aliases	NOLA1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(19)

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

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000454	Process	SnoRNA guided rRNA pseudouridine synthesis	IBA	21873635
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001650	Component	Fibrillar center	IDA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IPI	10757788, 18082603, 20351177
GO:0005515	Function	Protein binding	IPI	23685356
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005697	Component	Telomerase holoenzyme complex	IDA	29695869
GO:0005697	Component	Telomerase holoenzyme complex	TAS	22527283
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869
GO:0007004	Process	Telomere maintenance via telomerase	TAS	22527283
GO:0031118	Process	RRNA pseudouridine synthesis	TAS
GO:0031429	Component	Box H/ACA snoRNP complex	IBA	21873635
GO:0031429	Component	Box H/ACA snoRNP complex	IDA	10757788
GO:0031429	Component	Box H/ACA snoRNP complex	TAS	22527283
GO:0034513	Function	Box H/ACA snoRNA binding	IBA	21873635
GO:0034513	Function	Box H/ACA snoRNA binding	IPI	10757788
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

MIM	HGNC	e!Ensembl
606468	14264	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

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol

Show/Hide Causal Diseases (3)

Disease term	Disease name	dbSNP ID	References
Causal
Dyskeratosis congenita	Dyskeratosis Congenita	rs121908092, rs121908089, rs121908090, rs121908091, rs121918543, rs121918544, rs121918545, rs1553915517, rs199422284, rs199476393, rs199422277, rs199422270, rs137854489, rs121912288, rs121912304 View all (113 more)	22299032
Dyskeratosis congenita, x-linked	X-Linked Dyskeratosis Congenita	rs121912293, rs137854489, rs121912292, rs121912294, rs121912295, rs121912288, rs1603429348, rs121912304, rs28936072, rs137854491, rs1569558616, rs199422252, rs121912289, rs121912297, rs1114167422, rs1557265435, rs1557264102 View all (2 more)	22299032
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	27602772

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Metabolic Syndrome	Metabolic Syndrome			GWAS

Show/Hide Text Mining Associations (4)

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

GAR1 (GAR1 ribonucleoprotein)