Q9CY66 (GAR1_MOUSE) 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

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	231 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript 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 By similarity.
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) By similarity.
Subcellular location	Nucleus › nucleolus By similarity. Nucleus › Cajal body By similarity. Note: Also localized to Cajal bodies (coiled bodies) By similarity.
Domain	Interaction with SMN1 requires at least one of the RGG-box regions By similarity.
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 dense fibrillar component Inferred from sequence orthology PubMed 11074001. Source: MGI
Molecular_function	pseudouridine synthase activity Inferred from electronic annotation. Source: InterPro snoRNA binding Inferred from sequence orthology PubMed 11074001. Source: MGI
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9CY66-1)

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: Q9CY66-2)

The sequence of this isoform differs from the canonical sequence as follows:
     49-50: Missing.

Isoform 3 (identifier: Q9CY66-3)

The sequence of this isoform differs from the canonical sequence as follows:
     26-37: Missing.
     49-50: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 231	231	H/ACA ribonucleoprotein complex subunit 1		PRO_0000208553
Regions
	Region	4 – 68	65	RGG-box 1
	Region	180 – 231	52	RGG-box 2
Natural variations
	Alternative sequence	26 – 37	12	Missing in isoform 3.		VSP_011426
	Alternative sequence	49 – 50	2	Missing in isoform 2 and isoform 3.		VSP_011427
Experimental info
	Sequence conflict	52	1	F → L in BAC36056. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: FDD03BBEE258D662	FASTA	231	23,474
	10 20 30 40 50 60 MSFRGGGRGG FNRGGGGGGF NRGGGSNNHF RGGGGGGGGS FRGGGGGGGG SFRGGGRGGF 70 80 90 100 110 120 GRGGGRGGFN KFQDQGPPER VVLLGEFMHP CEDDIVCKCT TEENKVPYFN APVYLENKEQ 130 140 150 160 170 180 VGKVDEIFGQ LRDFYFSVKL SENMKASSFK KLQKFYIDPY KLLPLQRFLP RPPGEKGPPR 190 200 210 220 230 GGGGGGRGGR GGGRGGGGRG GGRGGGFRGG RGGGGGFRGG RGGGGFRGRG H
	Isoform 2 [UniParc]. Checksum: 50C18372B6CA72E8	FASTA	229	23,360
	10 20 30 40 50 60 MSFRGGGRGG FNRGGGGGGF NRGGGSNNHF RGGGGGGGGS FRGGGGGGSF RGGGRGGFGR 70 80 90 100 110 120 GGGRGGFNKF QDQGPPERVV LLGEFMHPCE DDIVCKCTTE ENKVPYFNAP VYLENKEQVG 130 140 150 160 170 180 KVDEIFGQLR DFYFSVKLSE NMKASSFKKL QKFYIDPYKL LPLQRFLPRP PGEKGPPRGG 190 200 210 220 GGGGRGGRGG GRGGGGRGGG RGGGFRGGRG GGGGFRGGRG GGGFRGRGH
	Isoform 3 [UniParc]. Checksum: 791A30206340BFBF	FASTA	217	22,262
	10 20 30 40 50 60 MSFRGGGRGG FNRGGGGGGF NRGGGGGSFR GGGGGGSFRG GGRGGFGRGG GRGGFNKFQD 70 80 90 100 110 120 QGPPERVVLL GEFMHPCEDD IVCKCTTEEN KVPYFNAPVY LENKEQVGKV DEIFGQLRDF 130 140 150 160 170 180 YFSVKLSENM KASSFKKLQK FYIDPYKLLP LQRFLPRPPG EKGPPRGGGG GGRGGRGGGR 190 200 210 GGGGRGGGRG GGFRGGRGGG GGFRGGRGGG GFRGRGH

References

[1]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Strain: C57BL/6J.
[2]	"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] (ISOFORMS 2 AND 3). Strain: FVB/N. Tissue: Limb and Mammary tumor.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK021256 mRNA. Translation: BAB32351.1. AK075923 mRNA. Translation: BAC36056.1. BC021873 mRNA. Translation: AAH21873.1. BC048685 mRNA. Translation: AAH48685.1.
IPI	IPI00110931. IPI00461325. IPI00461326.
RefSeq	NP_080854.1. NM_026578.3.
UniGene	Mm.24873.
3D structure databases
ProteinModelPortal	Q9CY66.
SMR	Q9CY66. Positions 77-170.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9CY66. 1 interaction.
PTM databases
PhosphoSite	Q9CY66.
Proteomic databases
PaxDb	Q9CY66.
PRIDE	Q9CY66.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000029643; ENSMUSP00000029643; ENSMUSG00000028010.
GeneID	68147.
KEGG	mmu:68147.
UCSC	uc008rim.2. mouse.
Organism-specific databases
CTD	54433.
MGI	MGI:1930948. Gar1.
Phylogenomic databases
eggNOG	COG3277.
GeneTree	ENSGT00530000063105.
InParanoid	Q9CY66.
KO	K11128.
OMA	ELYIDPG.
OrthoDB	EOG480HZ6.
Gene expression databases
ArrayExpress	Q9CY66.
Bgee	Q9CY66.
Genevestigator	Q9CY66.
GermOnline	ENSMUSG00000028010. Mus musculus.
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
ChiTaRS	GAR1. mouse.
NextBio	326530.
SOURCE	Search...

Entry information

Entry name

GAR1_MOUSE

Accession

Primary (citable) accession number: Q9CY66
Secondary accession number(s): Q80X93, Q8C6C5, Q8VDH0

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 31, 2004
Last sequence update:	June 1, 2001
Last modified:	April 3, 2013
This is version 82 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program