InnateDB Protein
|
IDBP-33997.5
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
GAR1
|
Protein Name
|
GAR1 ribonucleoprotein homolog (yeast)
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000226796
|
InnateDB Gene
|
IDBG-33995 (GAR1)
|
Protein Structure
|
|
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 subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme. {ECO:0000269PubMed:10757788, ECO:0000269PubMed:15044956}.
|
Subcellular Localization |
Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).
|
Disease Associations |
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
25
[view]
|
Protein-Protein |
24
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR007504
H/ACA ribonucleoprotein complex, subunit Gar1/Naf1
IPR009000
Translation protein, beta-barrel domain
|
PFAM |
PF04410
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NY12
|
PhosphoSite |
PhosphoSite-Q9NY12
|
TrEMBL |
A0A024RDJ3
|
UniProt Splice Variant |
|
Entrez Gene |
54433
|
UniGene |
Hs.606828
|
RefSeq |
NP_061856
|
HUGO |
HGNC:14264
|
OMIM |
606468
|
CCDS |
CCDS34050
|
HPRD |
07569
|
IMGT |
|
EMBL |
AJ276003
AY780787
BC003413
CH471057
|
GenPept |
AAH03413
AAV98357
CAB76563
EAX06253
EAX06254
|
|
|