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Q9NY12

- GAR1_HUMAN

UniProt

Q9NY12 - GAR1_HUMAN

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Protein

H/ACA ribonucleoprotein complex subunit 1

Gene

GAR1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cation channel activity Source: ProtInc
  2. poly(A) RNA binding Source: UniProtKB

GO - Biological processi

  1. cation transmembrane transport Source: GOC
  2. cation transport Source: GOC
  3. pseudouridine synthesis Source: InterPro
  4. rRNA processing Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Ribonucleoprotein

Keywords - Biological processi

Ribosome biogenesis, rRNA processing

Keywords - Ligandi

RNA-binding

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:14264. GAR1.

Subcellular locationi

Nucleusnucleolus. NucleusCajal body
Note: Also localized to Cajal bodies (coiled bodies).

GO - Cellular componenti

  1. box H/ACA snoRNP complex Source: InterPro
  2. nucleolus Source: HPA
  3. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA164720194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 217217H/ACA ribonucleoprotein complex subunit 1PRO_0000208552Add
BLAST

Proteomic databases

MaxQBiQ9NY12.
PaxDbiQ9NY12.
PRIDEiQ9NY12.

PTM databases

PhosphoSiteiQ9NY12.

Expressioni

Gene expression databases

BgeeiQ9NY12.
CleanExiHS_GAR1.
GenevestigatoriQ9NY12.

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

Protein-protein interaction databases

BioGridi119949. 27 interactions.
IntActiQ9NY12. 8 interactions.
MINTiMINT-207666.
STRINGi9606.ENSP00000226796.

Structurei

3D structure databases

ProteinModelPortaliQ9NY12.
SMRiQ9NY12. Positions 66-159.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni4 – 5754RGG-box 1Add
BLAST
Regioni169 – 21749RGG-box 2Add
BLAST

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

eggNOGiCOG3277.
GeneTreeiENSGT00730000111223.
HOGENOMiHOG000112695.
InParanoidiQ9NY12.
KOiK11128.
OMAiTHENKVP.
OrthoDBiEOG78H3WG.
PhylomeDBiQ9NY12.
TreeFamiTF350747.

Family and domain databases

InterProiIPR021154. H/ACA_rnp_Gar1.
IPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view]
PANTHERiPTHR23237. PTHR23237. 1 hit.
PfamiPF04410. Gar1. 1 hit.
[Graphical view]
ProDomiPD020235. Gar1_RNA_bd. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMiSSF50447. SSF50447. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391G → D in AAV98357. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei181 – 19818Missing in isoform 2. 1 PublicationVSP_014594Add
BLAST

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]
XP_005263126.1. XM_005263069.2. [Q9NY12-1]
UniGeneiHs.69851.

Genome annotation databases

EnsembliENST00000226796; ENSP00000226796; ENSG00000109534. [Q9NY12-1]
ENST00000394631; ENSP00000378127; ENSG00000109534. [Q9NY12-1]
GeneIDi54433.
KEGGihsa:54433.
UCSCiuc003hzt.3. human. [Q9NY12-1]
uc010imi.3. human. [Q9NY12-2]

Polymorphism databases

DMDMi51828015.

Keywords - Coding sequence diversityi

Alternative splicing

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 ]
XP_005263126.1. XM_005263069.2. [Q9NY12-1 ]
UniGenei Hs.69851.

3D structure databases

ProteinModelPortali Q9NY12.
SMRi Q9NY12. Positions 66-159.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119949. 27 interactions.
IntActi Q9NY12. 8 interactions.
MINTi MINT-207666.
STRINGi 9606.ENSP00000226796.

PTM databases

PhosphoSitei Q9NY12.

Polymorphism databases

DMDMi 51828015.

Proteomic databases

MaxQBi Q9NY12.
PaxDbi Q9NY12.
PRIDEi Q9NY12.

Protocols and materials databases

DNASUi 54433.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000226796 ; ENSP00000226796 ; ENSG00000109534 . [Q9NY12-1 ]
ENST00000394631 ; ENSP00000378127 ; ENSG00000109534 . [Q9NY12-1 ]
GeneIDi 54433.
KEGGi hsa:54433.
UCSCi uc003hzt.3. human. [Q9NY12-1 ]
uc010imi.3. human. [Q9NY12-2 ]

Organism-specific databases

CTDi 54433.
GeneCardsi GC04P110736.
HGNCi HGNC:14264. GAR1.
HPAi HPA059098.
MIMi 606468. gene.
neXtProti NX_Q9NY12.
PharmGKBi PA164720194.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3277.
GeneTreei ENSGT00730000111223.
HOGENOMi HOG000112695.
InParanoidi Q9NY12.
KOi K11128.
OMAi THENKVP.
OrthoDBi EOG78H3WG.
PhylomeDBi Q9NY12.
TreeFami TF350747.

Miscellaneous databases

GeneWikii Nucleolar_protein,_member_A1.
GenomeRNAii 54433.
NextBioi 56637.
PROi Q9NY12.
SOURCEi Search...

Gene expression databases

Bgeei Q9NY12.
CleanExi HS_GAR1.
Genevestigatori Q9NY12.

Family and domain databases

InterProi IPR021154. H/ACA_rnp_Gar1.
IPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view ]
PANTHERi PTHR23237. PTHR23237. 1 hit.
Pfami PF04410. Gar1. 1 hit.
[Graphical view ]
ProDomi PD020235. Gar1_RNA_bd. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SUPFAMi SSF50447. SSF50447. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs."
    Dragon F., Pogacic V., Filipowicz W.
    Mol. Cell. Biol. 20:3037-3048(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
  2. Li H., Nong W., Ke R., Zhong G., Xiao W., Shen C., Zhou G., Lin L., Yang S.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  4. "The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1."
    Pellizzoni L., Baccon J., Charroux B., Dreyfuss G.
    Curr. Biol. 11:1079-1088(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH THE SMN COMPLEX, SUBCELLULAR LOCATION.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
  6. "Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1."
    Whitehead S.E., Jones K.W., Zhang X., Cheng X., Terns R.M., Terns M.P.
    J. Biol. Chem. 277:48087-48093(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH THE SMN COMPLEX.
  7. "Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins."
    Wang C., Meier U.T.
    EMBO J. 23:1857-1867(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF THE H/ACA SNORNP COMPLEX.
  8. "A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis."
    Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E.
    Science 323:644-648(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TELOMERASE HOLOENZYME COMPLEX.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiGAR1_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 115 of the entry and version 1 of the sequence. [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

External Data

Dasty 3