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Q9NY12 (GAR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
H/ACA ribonucleoprotein complex subunit 1
Alternative name(s):
Nucleolar protein family A member 1
snoRNP protein GAR1
Gene names
Name:GAR1
Synonyms:NOLA1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length217 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1 Ref.7

Subunit structure

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). Ref.4 Ref.6 Ref.8

Subcellular location

Nucleusnucleolus. NucleusCajal body. Note: Also localized to Cajal bodies (coiled bodies). Ref.1 Ref.4 Ref.5

Domain

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

Sequence similarities

Belongs to the GAR1 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NY12-1)

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.
Isoform 2 (identifier: Q9NY12-2)

The sequence of this isoform differs from the canonical sequence as follows:
     181-198: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 217217H/ACA ribonucleoprotein complex subunit 1
PRO_0000208552

Regions

Region4 – 5754RGG-box 1
Region169 – 21749RGG-box 2

Natural variations

Alternative sequence181 – 19818Missing in isoform 2.
VSP_014594

Experimental info

Sequence conflict391G → D in AAV98357. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 48CF04B78836EF91

FASTA21722,348
        10         20         30         40         50         60 
MSFRGGGRGG FNRGGGGGGF NRGGSSNHFR GGGGGGGGGN FRGGGRGGFG RGGGRGGFNK 

        70         80         90        100        110        120 
GQDQGPPERV VLLGEFLHPC EDDIVCKCTT DENKVPYFNA PVYLENKEQI GKVDEIFGQL 

       130        140        150        160        170        180 
RDFYFSVKLS ENMKASSFKK LQKFYIDPYK LLPLQRFLPR PPGEKGPPRG GGRGGRGGGR 

       190        200        210 
GGGGRGGGRG GGFRGGRGGG GGGFRGGRGG GFRGRGH 

« Hide

Isoform 2 [UniParc].

Checksum: 251B17711422AB11
Show »

FASTA19920,834

References

« Hide 'large scale' references
[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]"Directed proteomic analysis of the human nucleolus."
Andersen J.S., Lyon C.E., Fox A.H., Leung A.K.L., Lam Y.W., Steen H., Mann M., Lamond A.I.
Curr. Biol. 12:1-11(2002) [PubMed] [Europe PMC] [Abstract]
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ276003 mRNA. Translation: CAB76563.1.
AY780787 mRNA. Translation: AAV98357.1.
BC003413 mRNA. Translation: AAH03413.1.
CCDSCCDS34050.1. [Q9NY12-1]
RefSeqNP_061856.1. NM_018983.3. [Q9NY12-1]
NP_127460.1. NM_032993.2. [Q9NY12-1]
XP_005263126.1. XM_005263069.2. [Q9NY12-1]
UniGeneHs.69851.

3D structure databases

ProteinModelPortalQ9NY12.
SMRQ9NY12. Positions 66-159.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119949. 19 interactions.
IntActQ9NY12. 8 interactions.
MINTMINT-207666.
STRING9606.ENSP00000226796.

PTM databases

PhosphoSiteQ9NY12.

Polymorphism databases

DMDM51828015.

Proteomic databases

MaxQBQ9NY12.
PaxDbQ9NY12.
PRIDEQ9NY12.

Protocols and materials databases

DNASU54433.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000226796; ENSP00000226796; ENSG00000109534. [Q9NY12-1]
ENST00000394631; ENSP00000378127; ENSG00000109534. [Q9NY12-1]
GeneID54433.
KEGGhsa:54433.
UCSCuc003hzt.3. human. [Q9NY12-1]
uc010imi.3. human. [Q9NY12-2]

Organism-specific databases

CTD54433.
GeneCardsGC04P110736.
HGNCHGNC:14264. GAR1.
HPAHPA059098.
MIM606468. gene.
neXtProtNX_Q9NY12.
PharmGKBPA164720194.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3277.
HOGENOMHOG000112695.
InParanoidQ9NY12.
KOK11128.
OMATHENKVP.
OrthoDBEOG78H3WG.
PhylomeDBQ9NY12.
TreeFamTF350747.

Gene expression databases

BgeeQ9NY12.
CleanExHS_GAR1.
GenevestigatorQ9NY12.

Family and domain databases

InterProIPR021154. H/ACA_rnp_Gar1.
IPR007504. H/ACA_rnp_Gar1/Naf1.
IPR009000. Transl_B-barrel.
[Graphical view]
PANTHERPTHR23237. PTHR23237. 1 hit.
PfamPF04410. Gar1. 1 hit.
[Graphical view]
ProDomPD020235. Gar1_RNA_bd. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SUPFAMSSF50447. SSF50447. 1 hit.
ProtoNetSearch...

Other

GeneWikiNucleolar_protein,_member_A1.
GenomeRNAi54433.
NextBio56637.
PROQ9NY12.
SOURCESearch...

Entry information

Entry nameGAR1_HUMAN
AccessionPrimary (citable) accession number: Q9NY12
Secondary accession number(s): Q5MJQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 112 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM