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Protein

H/ACA ribonucleoprotein complex subunit 1

Gene

GAR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRibonucleoprotein, RNA-binding
Biological processRibosome biogenesis, rRNA processing

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
H/ACA ribonucleoprotein complex subunit 1
Alternative name(s):
Nucleolar protein family A member 1
snoRNP protein GAR1
Gene namesi
Name:GAR1
Synonyms:NOLA1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109534.16
HGNCiHGNC:14264 GAR1
MIMi606468 gene
neXtProtiNX_Q9NY12

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi54433
OpenTargetsiENSG00000109534
PharmGKBiPA164720194

Polymorphism and mutation databases

BioMutaiGAR1
DMDMi51828015

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002085521 – 217H/ACA ribonucleoprotein complex subunit 1Add BLAST217

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki134Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Ubl conjugation

Proteomic databases

EPDiQ9NY12
MaxQBiQ9NY12
PaxDbiQ9NY12
PeptideAtlasiQ9NY12
PRIDEiQ9NY12
ProteomicsDBi83147
83148 [Q9NY12-2]

PTM databases

iPTMnetiQ9NY12
PhosphoSitePlusiQ9NY12
SwissPalmiQ9NY12

Expressioni

Gene expression databases

BgeeiENSG00000109534 Expressed in 227 organ(s), highest expression level in amniotic fluid
CleanExiHS_GAR1
ExpressionAtlasiQ9NY12 baseline and differential
GenevisibleiQ9NY12 HS

Organism-specific databases

HPAiHPA059098

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 Publications

Protein-protein interaction databases

BioGridi119949, 94 interactors
ComplexPortaliCPX-265 Telomerase holoenzyme complex
CORUMiQ9NY12
IntActiQ9NY12, 63 interactors
MINTiQ9NY12
STRINGi9606.ENSP00000226796

Structurei

3D structure databases

ProteinModelPortaliQ9NY12
SMRiQ9NY12
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni4 – 57RGG-box 1Add BLAST54
Regioni169 – 217RGG-box 2Add BLAST49

Domaini

Interaction with SMN1 requires at least one of the RGG-box regions.

Sequence similaritiesi

Belongs to the GAR1 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3262 Eukaryota
COG3277 LUCA
GeneTreeiENSGT00730000111223
HOGENOMiHOG000112695
InParanoidiQ9NY12
KOiK11128
OMAiFQQRDMG
OrthoDBiEOG091G0Z6Z
PhylomeDBiQ9NY12
TreeFamiTF350747

Family and domain databases

Gene3Di2.40.10.230, 1 hit
InterProiView protein in InterPro
IPR038664 Gar1/Naf1_Cbf5-bd_sf
IPR021154 H/ACA_rnp_Gar1
IPR007504 H/ACA_rnp_Gar1/Naf1
IPR009000 Transl_B-barrel_sf
PANTHERiPTHR23237 PTHR23237, 1 hit
PfamiView protein in Pfam
PF04410 Gar1, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD020235 Gar1_RNA_bd, 1 hit
SUPFAMiSSF50447 SSF50447, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9NY12-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:217
Mass (Da):22,348
Last modified:October 1, 2000 - v1
Checksum:i48CF04B78836EF91
GO
Isoform 2 (identifier: Q9NY12-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     181-198: Missing.

Note: No experimental confirmation available.
Show »
Length:199
Mass (Da):20,834
Checksum:i251B17711422AB11
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39G → D in AAV98357 (Ref. 2) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014594181 – 198Missing in isoform 2. 1 PublicationAdd BLAST18

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
CCDSiCCDS34050.1 [Q9NY12-1]
RefSeqiNP_061856.1, NM_018983.3 [Q9NY12-1]
NP_127460.1, NM_032993.2 [Q9NY12-1]
UniGeneiHs.69851

Genome annotation databases

EnsembliENST00000226796; ENSP00000226796; ENSG00000109534 [Q9NY12-1]
ENST00000394631; ENSP00000378127; ENSG00000109534 [Q9NY12-1]
GeneIDi54433
KEGGihsa:54433
UCSCiuc003hzt.4 human [Q9NY12-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS34050.1 [Q9NY12-1]
RefSeqiNP_061856.1, NM_018983.3 [Q9NY12-1]
NP_127460.1, NM_032993.2 [Q9NY12-1]
UniGeneiHs.69851

3D structure databases

ProteinModelPortaliQ9NY12
SMRiQ9NY12
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119949, 94 interactors
ComplexPortaliCPX-265 Telomerase holoenzyme complex
CORUMiQ9NY12
IntActiQ9NY12, 63 interactors
MINTiQ9NY12
STRINGi9606.ENSP00000226796

PTM databases

iPTMnetiQ9NY12
PhosphoSitePlusiQ9NY12
SwissPalmiQ9NY12

Polymorphism and mutation databases

BioMutaiGAR1
DMDMi51828015

Proteomic databases

EPDiQ9NY12
MaxQBiQ9NY12
PaxDbiQ9NY12
PeptideAtlasiQ9NY12
PRIDEiQ9NY12
ProteomicsDBi83147
83148 [Q9NY12-2]

Protocols and materials databases

DNASUi54433
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000226796; ENSP00000226796; ENSG00000109534 [Q9NY12-1]
ENST00000394631; ENSP00000378127; ENSG00000109534 [Q9NY12-1]
GeneIDi54433
KEGGihsa:54433
UCSCiuc003hzt.4 human [Q9NY12-1]

Organism-specific databases

CTDi54433
DisGeNETi54433
EuPathDBiHostDB:ENSG00000109534.16
GeneCardsiGAR1
HGNCiHGNC:14264 GAR1
HPAiHPA059098
MIMi606468 gene
neXtProtiNX_Q9NY12
OpenTargetsiENSG00000109534
PharmGKBiPA164720194
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3262 Eukaryota
COG3277 LUCA
GeneTreeiENSGT00730000111223
HOGENOMiHOG000112695
InParanoidiQ9NY12
KOiK11128
OMAiFQQRDMG
OrthoDBiEOG091G0Z6Z
PhylomeDBiQ9NY12
TreeFamiTF350747

Enzyme and pathway databases

ReactomeiR-HSA-6790901 rRNA modification in the nucleus and cytosol

Miscellaneous databases

ChiTaRSiGAR1 human
GeneWikiiNucleolar_protein,_member_A1
GenomeRNAii54433
PROiPR:Q9NY12
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109534 Expressed in 227 organ(s), highest expression level in amniotic fluid
CleanExiHS_GAR1
ExpressionAtlasiQ9NY12 baseline and differential
GenevisibleiQ9NY12 HS

Family and domain databases

Gene3Di2.40.10.230, 1 hit
InterProiView protein in InterPro
IPR038664 Gar1/Naf1_Cbf5-bd_sf
IPR021154 H/ACA_rnp_Gar1
IPR007504 H/ACA_rnp_Gar1/Naf1
IPR009000 Transl_B-barrel_sf
PANTHERiPTHR23237 PTHR23237, 1 hit
PfamiView protein in Pfam
PF04410 Gar1, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD020235 Gar1_RNA_bd, 1 hit
SUPFAMiSSF50447 SSF50447, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGAR1_HUMAN
AccessioniPrimary (citable) accession number: Q9NY12
Secondary accession number(s): Q5MJQ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: October 1, 2000
Last modified: October 10, 2018
This is version 152 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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