Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q9NY12

- GAR1_HUMAN

UniProt

Q9NY12 - GAR1_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 transport Source: GOC
    2. pseudouridine synthesis Source: InterPro
    3. rRNA processing Source: UniProtKB-KW

    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. Cajal body Source: UniProtKB-SubCell
    3. nucleolus Source: HPA
    4. nucleus Source: HPA

    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. 18 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.
    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

    MSFRGGGRGG FNRGGGGGGF NRGGSSNHFR GGGGGGGGGN FRGGGRGGFG    50
    RGGGRGGFNK GQDQGPPERV VLLGEFLHPC EDDIVCKCTT DENKVPYFNA 100
    PVYLENKEQI GKVDEIFGQL RDFYFSVKLS ENMKASSFKK LQKFYIDPYK 150
    LLPLQRFLPR PPGEKGPPRG GGRGGRGGGR GGGGRGGGRG GGFRGGRGGG 200
    GGGFRGGRGG GFRGRGH 217
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 18 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.
    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

    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 1, 2014
    This is version 114 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