Q9NY12 (GAR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	217 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Nucleus › nucleolus. Nucleus › Cajal 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.

Ontologies

Keywords
Biological process	Ribosome biogenesis rRNA processing
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Domain	Repeat
Ligand	RNA-binding
Molecular function	Ribonucleoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	rRNA processing Inferred from electronic annotation. Source: UniProtKB-KW snRNA pseudouridine synthesis Inferred from electronic annotation. Source: InterPro
Cellular_component	Cajal body Inferred from electronic annotation. Source: UniProtKB-SubCell box H/ACA snoRNP complex Inferred from electronic annotation. Source: InterPro
Molecular_function	cation channel activity Traceable author statement PubMed 8766832. Source: ProtInc pseudouridine synthase activity Inferred from electronic annotation. Source: InterPro snoRNA binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 217	217	H/ACA ribonucleoprotein complex subunit 1		PRO_0000208552
Regions
	Region	4 – 57	54	RGG-box 1
	Region	169 – 217	49	RGG-box 2
Natural variations
	Alternative sequence	181 – 198	18	Missing in isoform 2.		VSP_014594
Experimental info
	Sequence conflict	39	1	G → D in AAV98357. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: 48CF04B78836EF91	FASTA	217	22,348
	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
	Isoform 2 [UniParc]. Checksum: 251B17711422AB11	FASTA	199	20,834
	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 GGGGGFRGGR GGGFRGRGH

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00302176. IPI00607820.
RefSeq	NP_061856.1. NM_018983.3. NP_127460.1. NM_032993.2.
UniGene	Hs.69851.
3D structure databases
ProteinModelPortal	Q9NY12.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NY12. 5 interactions.
MINT	MINT-207666.
STRING	9606.ENSP00000226796.
PTM databases
PhosphoSite	Q9NY12.
Polymorphism databases
DMDM	51828015.
Proteomic databases
PaxDb	Q9NY12.
PRIDE	Q9NY12.
Protocols and materials databases
DNASU	54433.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000226796; ENSP00000226796; ENSG00000109534. ENST00000394631; ENSP00000378127; ENSG00000109534.
GeneID	54433.
KEGG	hsa:54433.
UCSC	uc003hzt.3. human. uc010imi.3. human.
Organism-specific databases
CTD	54433.
GeneCards	GC04P110736.
HGNC	HGNC:14264. GAR1.
MIM	606468. gene.
neXtProt	NX_Q9NY12.
PharmGKB	PA164720194.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG3277.
HOGENOM	HOG000112695.
InParanoid	Q9NY12.
KO	K11128.
OMA	ELYIDPG.
OrthoDB	EOG480HZ6.
Gene expression databases
Bgee	Q9NY12.
CleanEx	HS_GAR1.
Genevestigator	Q9NY12.
GermOnline	ENSG00000109534. Homo sapiens.
Family and domain databases
InterPro	IPR007504. H/ACA_rnp_Gar1/Naf1. IPR021154. H/ACA_rnp_Gar1_euk. IPR009000. Transl_elong_init/rib_B-barrel. [Graphical view]
PANTHER	PTHR23237. PTHR23237. 1 hit.
Pfam	PF04410. Gar1. 1 hit. [Graphical view]
ProDom	PD020235. Gar1_RNA_bd. 1 hit. [Graphical view] [Entries sharing at least one domain]
SUPFAM	SSF50447. Translat_factor. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	54433.
NextBio	56637.
SOURCE	Search...

Entry information

Entry name

GAR1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.