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Aliases for GAR1 Gene

Aliases for GAR1 Gene

  • GAR1 Homolog, Ribonucleoprotein 2 3
  • Nucleolar Protein Family A, Member 1 (H/ACA Small Nucleolar RNPs) 2 3
  • Nucleolar Protein Family A Member 1 3 4
  • SnoRNP Protein GAR1 3 4
  • NOLA1 3 4
  • GAR1 Ribonucleoprotein Homolog (Yeast) 2
  • GAR1 Ribonucleoprotein Homolog 3
  • GAR1 Ribonucleoprotein 2

External Ids for GAR1 Gene

Previous HGNC Symbols for GAR1 Gene

  • NOLA1

Previous GeneCards Identifiers for GAR1 Gene

  • GC04P110957
  • GC04P110736
  • GC04P106468

Summaries for GAR1 Gene

Entrez Gene Summary for GAR1 Gene

  • This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GAR1 Gene

GAR1 (GAR1 Homolog, Ribonucleoprotein) is a Protein Coding gene. Diseases associated with GAR1 include dyskeratosis congenita and spinal muscular atrophy. Among its related pathways are Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding and cation channel activity.

UniProtKB/Swiss-Prot for GAR1 Gene

  • 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.

Gene Wiki entry for GAR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAR1 Gene

Genomics for GAR1 Gene

Regulatory Elements for GAR1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GAR1 Gene

Chromosome:
4
Start:
109,815,510 bp from pter
End:
109,824,740 bp from pter
Size:
9,231 bases
Orientation:
Plus strand

Genomic View for GAR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GAR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAR1 Gene

Proteins for GAR1 Gene

  • Protein details for GAR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NY12-GAR1_HUMAN
    Recommended name:
    H/ACA ribonucleoprotein complex subunit 1
    Protein Accession:
    Q9NY12
    Secondary Accessions:
    • Q5MJQ2

    Protein attributes for GAR1 Gene

    Size:
    217 amino acids
    Molecular mass:
    22348 Da
    Quaternary 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).

    Alternative splice isoforms for GAR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAR1 Gene

Proteomics data for GAR1 Gene at MOPED

Post-translational modifications for GAR1 Gene

  • Ubiquitination at Lys 150
  • Modification sites at PhosphoSitePlus

Other Protein References for GAR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GAR1 Gene

Domains & Families for GAR1 Gene

Protein Domains for GAR1 Gene

Suggested Antigen Peptide Sequences for GAR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NY12

UniProtKB/Swiss-Prot:

GAR1_HUMAN :
  • Interaction with SMN1 requires at least one of the RGG-box regions
  • Belongs to the GAR1 family.
Domain:
  • Interaction with SMN1 requires at least one of the RGG-box regions
Family:
  • Belongs to the GAR1 family.
genes like me logo Genes that share domains with GAR1: view

No data available for Gene Families for GAR1 Gene

Function for GAR1 Gene

Molecular function for GAR1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for GAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity TAS 8766832
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with GAR1: view

Phenotypes for GAR1 Gene

genes like me logo Genes that share phenotypes with GAR1: view

Animal Model Products

miRNA for GAR1 Gene

miRTarBase miRNAs that target GAR1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAR1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GAR1 Gene

Localization for GAR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAR1 Gene

Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAR1 Gene COMPARTMENTS Subcellular localization image for GAR1 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for GAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000784 nuclear chromosome, telomeric region IDA 19135898
GO:0005634 nucleus IDA --
GO:0005697 telomerase holoenzyme complex TAS 22527283
GO:0005730 nucleolus IDA --
GO:0015030 Cajal body --
genes like me logo Genes that share ontologies with GAR1: view

Pathways & Interactions for GAR1 Gene

genes like me logo Genes that share pathways with GAR1: view

Pathways by source for GAR1 Gene

1 KEGG pathway for GAR1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IEA --
GO:0006364 rRNA processing IEA --
GO:0006812 cation transport --
GO:0007004 telomere maintenance via telomerase TAS 22527283
GO:0042254 ribosome biogenesis --
genes like me logo Genes that share ontologies with GAR1: view

No data available for SIGNOR curated interactions for GAR1 Gene

Drugs & Compounds for GAR1 Gene

(2) Drugs for GAR1 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine Experimental Pharma 0
arginine Nutra 346

(1) Additional Compounds for GAR1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
genes like me logo Genes that share compounds with GAR1: view

Transcripts for GAR1 Gene

Unigene Clusters for GAR1 Gene

GAR1 ribonucleoprotein homolog (yeast):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GAR1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: - -
SP2: -
SP3:

Relevant External Links for GAR1 Gene

GeneLoc Exon Structure for
GAR1
ECgene alternative splicing isoforms for
GAR1

Expression for GAR1 Gene

mRNA expression in normal human tissues for GAR1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GAR1 Gene



SOURCE GeneReport for Unigene cluster for GAR1 Gene Hs.69851

genes like me logo Genes that share expression patterns with GAR1: view

Protein tissue co-expression partners for GAR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GAR1 Gene

Orthologs for GAR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GAR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAR1 35
  • 99.39 (n)
  • 99.08 (a)
GAR1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gar1 16
Gar1 36
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAR1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAR1 36
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAR1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAR1 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAR1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAR1 36
  • 82 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc56086 35
gar1 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG4038 36
  • 56 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y66H1A.4 36
  • 56 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GAR1 36
  • 55 (a)
OneToOne
GAR1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4306 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1115 36
  • 64 (a)
OneToOne
Species with no ortholog for GAR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GAR1 Gene

ENSEMBL:
Gene Tree for GAR1 (if available)
TreeFam:
Gene Tree for GAR1 (if available)

Paralogs for GAR1 Gene

Pseudogenes.org Pseudogenes for GAR1 Gene

genes like me logo Genes that share paralogs with GAR1: view

No data available for Paralogs for GAR1 Gene

Variants for GAR1 Gene

Variation tolerance for GAR1 Gene

Residual Variation Intolerance Score: 64.15% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.35; 26.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAR1 Gene

HapMap Linkage Disequilibrium report
GAR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for GAR1 Gene

Disorders for GAR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GAR1 Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • revesz syndrome
spinal muscular atrophy
  • werdnig-hoffmann disease
- elite association
Search GAR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GAR1

Human Genome Epidemiology (HuGE) Navigator
GAR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAR1
genes like me logo Genes that share disorders with GAR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAR1 Gene

Publications for GAR1 Gene

  1. In vitro assembly of human H/ACA small nucleolar RNPs reveals unique features of U17 and telomerase RNAs. (PMID: 10757788) Dragon F. … Filipowicz W. (Mol. Cell. Biol. 2000) 2 23 67
  2. Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo. (PMID: 20351177) Egan E.D. … Collins K. (Mol. Cell. Biol. 2010) 23 67
  3. Structural mechanism of substrate RNA recruitment in H/ACA RNA-guided pseudouridine synthase. (PMID: 19481523) Duan J. … Ye K. (Mol. Cell 2009) 23 67
  4. NOLA1 gene mutations in acquired aplastic anemia. (PMID: 18989882) Pigullo S. … Dufour C. (Pediatr Blood Cancer 2009) 23 67
  5. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PMID: 18523010) Vulliamy T. … Dokal I. (Proc. Natl. Acad. Sci. U.S.A. 2008) 23 67

Products for GAR1 Gene

Sources for GAR1 Gene

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