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Protein

H/ACA ribonucleoprotein complex subunit 1

Gene

GAR1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • box H/ACA snoRNA binding Source: BHF-UCL
  • RNA binding Source: UniProtKB
  • telomerase RNA binding Source: BHF-UCL

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.

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.

PTM databases

iPTMnetiQ9NY12.
PhosphoSitePlusiQ9NY12.
SwissPalmiQ9NY12.

Expressioni

Gene expression databases

BgeeiENSG00000109534.
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. 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. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. The complex also interacts with TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC).3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
SMN2Q166372EBI-2510382,EBI-395421

Protein-protein interaction databases

BioGridi119949. 91 interactors.
CORUMiQ9NY12.
IntActiQ9NY12. 62 interactors.
MINTiMINT-207666.
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

InterProiView protein in InterPro
IPR021154. H/ACA_rnp_Gar1.
IPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
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

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: September 27, 2017
This is version 142 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families