UniProtKB - Q9NY12 (GAR1_HUMAN)
H/ACA ribonucleoprotein complex subunit 1
GAR1
Functioni
GO - Molecular functioni
- box H/ACA snoRNA binding Source: BHF-UCL
- RNA binding Source: BHF-UCL
- telomerase RNA binding Source: BHF-UCL
GO - Biological processi
- rRNA pseudouridine synthesis Source: Reactome
- snoRNA guided rRNA pseudouridine synthesis Source: GO_Central
- telomere maintenance via telomerase Source: UniProtKB
Keywordsi
Molecular function | Ribonucleoprotein, RNA-binding |
Biological process | Ribosome biogenesis, rRNA processing |
Enzyme and pathway databases
PathwayCommonsi | Q9NY12 |
Reactomei | R-HSA-171319, Telomere Extension By Telomerase R-HSA-6790901, rRNA modification in the nucleus and cytosol |
Names & Taxonomyi
Protein namesi | Recommended name: H/ACA ribonucleoprotein complex subunit 1Alternative name(s): Nucleolar protein family A member 1 snoRNP protein GAR1 |
Gene namesi | Name:GAR1 Synonyms:NOLA1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:14264, GAR1 |
MIMi | 606468, gene |
neXtProti | NX_Q9NY12 |
VEuPathDBi | HostDB:ENSG00000109534.16 |
Subcellular locationi
Nucleus
Note: Also localized to Cajal bodies (coiled bodies).
Nucleus
- box H/ACA scaRNP complex Source: BHF-UCL
- box H/ACA snoRNP complex Source: BHF-UCL
- box H/ACA telomerase RNP complex Source: BHF-UCL
- fibrillar center Source: HPA
- nuclear chromosome, telomeric region Source: BHF-UCL
- nucleoplasm Source: HPA
- telomerase holoenzyme complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 54433 |
OpenTargetsi | ENSG00000109534 |
PharmGKBi | PA164720194 |
Miscellaneous databases
Pharosi | Q9NY12, Tbio |
Genetic variation databases
BioMutai | GAR1 |
DMDMi | 51828015 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000208552 | 1 – 217 | H/ACA ribonucleoprotein complex subunit 1Add BLAST | 217 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 134 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Keywords - PTMi
Isopeptide bond, Ubl conjugationProteomic databases
EPDi | Q9NY12 |
jPOSTi | Q9NY12 |
MassIVEi | Q9NY12 |
MaxQBi | Q9NY12 |
PaxDbi | Q9NY12 |
PeptideAtlasi | Q9NY12 |
PRIDEi | Q9NY12 |
ProteomicsDBi | 83147 [Q9NY12-1] 83148 [Q9NY12-2] |
PTM databases
iPTMneti | Q9NY12 |
PhosphoSitePlusi | Q9NY12 |
SwissPalmi | Q9NY12 |
Expressioni
Gene expression databases
Bgeei | ENSG00000109534, Expressed in amniotic fluid and 239 other tissues |
ExpressionAtlasi | Q9NY12, baseline and differential |
Genevisiblei | Q9NY12, HS |
Organism-specific databases
HPAi | ENSG00000109534, Low tissue specificity |
Interactioni
Subunit structurei
Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit (PubMed:11509230, PubMed:12244096). The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1 (PubMed:11509230, PubMed:12244096). The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:11509230, PubMed:12244096). The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs (PubMed:11509230, PubMed:12244096). Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2 (PubMed:11509230, PubMed:12244096). Associates with NOLC1/NOPP140 (PubMed:11509230, PubMed:12244096). H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4 (PubMed:11509230, PubMed:12244096). This is mediated by interaction between GAR1 and SMN1 or SMN2 (PubMed:11509230, PubMed:12244096). The SMN complex may be required for correct assembly of the H/ACA snoRNP complex (PubMed:11509230, PubMed:12244096).
Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:19179534, PubMed:20351177, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534).
5 PublicationsProtein-protein interaction databases
BioGRIDi | 119949, 117 interactors |
ComplexPortali | CPX-265, Telomerase holoenzyme complex |
CORUMi | Q9NY12 |
IntActi | Q9NY12, 81 interactors |
MINTi | Q9NY12 |
STRINGi | 9606.ENSP00000226796 |
Miscellaneous databases
RNActi | Q9NY12, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 4 – 57 | RGG-box 1Add BLAST | 54 | |
Regioni | 169 – 217 | RGG-box 2Add BLAST | 49 |
Domaini
Sequence similaritiesi
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG3262, Eukaryota |
GeneTreei | ENSGT00730000111223 |
HOGENOMi | CLU_080002_0_1_1 |
InParanoidi | Q9NY12 |
OMAi | FNRQQDY |
PhylomeDBi | Q9NY12 |
TreeFami | TF350747 |
Family and domain databases
Gene3Di | 2.40.10.230, 1 hit |
InterProi | View protein in InterPro IPR038664, Gar1/Naf1_Cbf5-bd_sf IPR007504, H/ACA_rnp_Gar1/Naf1 IPR009000, Transl_B-barrel_sf |
Pfami | View protein in Pfam PF04410, Gar1, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSFRGGGRGG FNRGGGGGGF NRGGSSNHFR GGGGGGGGGN FRGGGRGGFG
60 70 80 90 100
RGGGRGGFNK GQDQGPPERV VLLGEFLHPC EDDIVCKCTT DENKVPYFNA
110 120 130 140 150
PVYLENKEQI GKVDEIFGQL RDFYFSVKLS ENMKASSFKK LQKFYIDPYK
160 170 180 190 200
LLPLQRFLPR PPGEKGPPRG GGRGGRGGGR GGGGRGGGRG GGFRGGRGGG
210
GGGFRGGRGG GFRGRGH
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 39 | G → D in AAV98357 (Ref. 2) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_014594 | 181 – 198 | Missing in isoform 2. 1 PublicationAdd BLAST | 18 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ276003 mRNA Translation: CAB76563.1 AY780787 mRNA Translation: AAV98357.1 BC003413 mRNA Translation: AAH03413.1 |
CCDSi | CCDS34050.1 [Q9NY12-1] |
RefSeqi | NP_061856.1, NM_018983.3 [Q9NY12-1] NP_127460.1, NM_032993.2 [Q9NY12-1] |
Genome annotation databases
Ensembli | ENST00000226796; ENSP00000226796; ENSG00000109534 [Q9NY12-1] ENST00000394631; ENSP00000378127; ENSG00000109534 [Q9NY12-1] |
GeneIDi | 54433 |
KEGGi | hsa:54433 |
UCSCi | uc003hzt.4, human [Q9NY12-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ276003 mRNA Translation: CAB76563.1 AY780787 mRNA Translation: AAV98357.1 BC003413 mRNA Translation: AAH03413.1 |
CCDSi | CCDS34050.1 [Q9NY12-1] |
RefSeqi | NP_061856.1, NM_018983.3 [Q9NY12-1] NP_127460.1, NM_032993.2 [Q9NY12-1] |
3D structure databases
SMRi | Q9NY12 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 119949, 117 interactors |
ComplexPortali | CPX-265, Telomerase holoenzyme complex |
CORUMi | Q9NY12 |
IntActi | Q9NY12, 81 interactors |
MINTi | Q9NY12 |
STRINGi | 9606.ENSP00000226796 |
PTM databases
iPTMneti | Q9NY12 |
PhosphoSitePlusi | Q9NY12 |
SwissPalmi | Q9NY12 |
Genetic variation databases
BioMutai | GAR1 |
DMDMi | 51828015 |
Proteomic databases
EPDi | Q9NY12 |
jPOSTi | Q9NY12 |
MassIVEi | Q9NY12 |
MaxQBi | Q9NY12 |
PaxDbi | Q9NY12 |
PeptideAtlasi | Q9NY12 |
PRIDEi | Q9NY12 |
ProteomicsDBi | 83147 [Q9NY12-1] 83148 [Q9NY12-2] |
Protocols and materials databases
Antibodypediai | 26373, 123 antibodies |
DNASUi | 54433 |
Genome annotation databases
Ensembli | ENST00000226796; ENSP00000226796; ENSG00000109534 [Q9NY12-1] ENST00000394631; ENSP00000378127; ENSG00000109534 [Q9NY12-1] |
GeneIDi | 54433 |
KEGGi | hsa:54433 |
UCSCi | uc003hzt.4, human [Q9NY12-1] |
Organism-specific databases
CTDi | 54433 |
DisGeNETi | 54433 |
GeneCardsi | GAR1 |
HGNCi | HGNC:14264, GAR1 |
HPAi | ENSG00000109534, Low tissue specificity |
MIMi | 606468, gene |
neXtProti | NX_Q9NY12 |
OpenTargetsi | ENSG00000109534 |
PharmGKBi | PA164720194 |
VEuPathDBi | HostDB:ENSG00000109534.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3262, Eukaryota |
GeneTreei | ENSGT00730000111223 |
HOGENOMi | CLU_080002_0_1_1 |
InParanoidi | Q9NY12 |
OMAi | FNRQQDY |
PhylomeDBi | Q9NY12 |
TreeFami | TF350747 |
Enzyme and pathway databases
PathwayCommonsi | Q9NY12 |
Reactomei | R-HSA-171319, Telomere Extension By Telomerase R-HSA-6790901, rRNA modification in the nucleus and cytosol |
Miscellaneous databases
BioGRID-ORCSi | 54433, 417 hits in 881 CRISPR screens |
ChiTaRSi | GAR1, human |
GeneWikii | Nucleolar_protein,_member_A1 |
GenomeRNAii | 54433 |
Pharosi | Q9NY12, Tbio |
PROi | PR:Q9NY12 |
RNActi | Q9NY12, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000109534, Expressed in amniotic fluid and 239 other tissues |
ExpressionAtlasi | Q9NY12, baseline and differential |
Genevisiblei | Q9NY12, HS |
Family and domain databases
Gene3Di | 2.40.10.230, 1 hit |
InterProi | View protein in InterPro IPR038664, Gar1/Naf1_Cbf5-bd_sf IPR007504, H/ACA_rnp_Gar1/Naf1 IPR009000, Transl_B-barrel_sf |
Pfami | View protein in Pfam PF04410, Gar1, 1 hit |
SUPFAMi | SSF50447, SSF50447, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GAR1_HUMAN | |
Accessioni | Q9NY12Primary (citable) accession number: Q9NY12 Secondary accession number(s): Q5MJQ2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 31, 2004 |
Last sequence update: | October 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 170 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM