ID:GAR1_HUMAN DESCRIPTION: RecName: Full=H/ACA ribonucleoprotein complex subunit 1; AltName: Full=Nucleolar protein family A member 1; AltName: Full=snoRNP protein GAR1; 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. SUBUNIT: 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). SUBCELLULAR LOCATION: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies). DOMAIN: Interaction with SMN1 requires at least one of the RGG-box regions. SIMILARITY: Belongs to the GAR1 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04410 - Gar1/Naf1 RNA binding region
ModBase Predicted Comparative 3D Structure on Q9NY12
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC003413 - Homo sapiens GAR1 ribonucleoprotein homolog (yeast), mRNA (cDNA clone MGC:4917 IMAGE:3451136), complete cds. AJ276003 - Homo sapiens mRNA for GAR1 protein (GAR1 gene). AK310489 - Homo sapiens cDNA, FLJ17531. JD178031 - Sequence 159055 from Patent EP1572962. JD440117 - Sequence 421141 from Patent EP1572962. JD442120 - Sequence 423144 from Patent EP1572962. KJ898980 - Synthetic construct Homo sapiens clone ccsbBroadEn_08374 GAR1 gene, encodes complete protein. DQ894157 - Synthetic construct Homo sapiens clone IMAGE:100008617; FLH168229.01L; RZPDo839D1091D nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs) (NOLA1) gene, encodes complete protein. EU176271 - Synthetic construct Homo sapiens clone IMAGE:100006560; FLH263554.01X; RZPDo839A11250D nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs) (NOLA1) gene, encodes complete protein. AY780787 - Homo sapiens chromosome 4 nucleolar protein family A member 1 (NOLA1) mRNA, complete cds, alternatively spliced. JD306942 - Sequence 287966 from Patent EP1572962. JD257935 - Sequence 238959 from Patent EP1572962. JD551336 - Sequence 532360 from Patent EP1572962. JD295317 - Sequence 276341 from Patent EP1572962. JD295316 - Sequence 276340 from Patent EP1572962. JD280270 - Sequence 261294 from Patent EP1572962. JD081386 - Sequence 62410 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NY12 (Reactome details) participates in the following event(s):
R-HSA-6790905 Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
Sequence and Links to Tools and Databases 
Microarray Expression Data 
