• Gene id: 54433

Gene Summary

• Gene Symbol: GAR1   Gene   UCSC   Ensembl
• Aliases: NOLA1
• Gene name: GAR1 ribonucleoprotein
• Alternate names: H/ACA ribonucleoprotein complex subunit 1, GAR1 homolog, ribonucleoprotein, GAR1 ribonucleoprotein homolog, nucleolar protein family A member 1, nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs), snoRNP protein GAR1,
• Gene location: 4q25 (109815509: 109824736)     Exons: 8     NC_000004.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9NY12  
  • Name: H/ACA ribonucleoprotein complex subunit 1 (Nucleolar protein family A member 1) (snoRNP protein GAR1)
  • Length: 217  
  • Mass: 22348
• Sequence:

  MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGGGRGGFGRGGGRGGFNKGQDQGPPERVVLLGE
  FLHPCEDDIVCKCTTDENKVPYFNAPVYLENKEQIGKVDEIFGQLRDFYFSVKLSENMKASSFKKLQKFYIDPYK
  LLPLQRFLPRPPGEKGPPRGGGRGGRGGGRGGGGRGGGRGGGFRGGRGGGGGGFRGGRGGGFRGRGH

• Structural information:
  • Interpro: IPR038664  IPR007504  IPR009000  
  • STRING: ENSP00000226796
• Other Databases: GeneCards:  GAR1  Malacards:  GAR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034513	box H/ACA snoRNA binding	IBA	molecular function
GO:0031429	box H/ACA snoRNP complex	IBA	cellular component
GO:0000454	snoRNA guided rRNA pseudouridine synthesis	IBA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0031118	rRNA pseudouridine synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0031429	box H/ACA snoRNP complex	IEA	cellular component
GO:0000454	snoRNA guided rRNA pseudouridine synthesis	IEA	biological process
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	colocalizes with
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0031429	box H/ACA snoRNP complex	IDA	cellular component
GO:0090661	box H/ACA telomerase RNP complex	IDA	cellular component
GO:0072589	box H/ACA scaRNP complex	TAS	cellular component
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0031429	box H/ACA snoRNP complex	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0090661	box H/ACA telomerase RNP complex	TAS	cellular component
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray