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Aliases for GAR1 Gene

Aliases for GAR1 Gene

  • GAR1 Ribonucleoprotein 2 3
  • Nucleolar Protein Family A, Member 1 (H/ACA Small Nucleolar RNPs) 2 3
  • Nucleolar Protein Family A Member 1 3 4
  • GAR1 Homolog, Ribonucleoprotein 3 5
  • SnoRNP Protein GAR1 3 4
  • NOLA1 3 4
  • GAR1 Ribonucleoprotein Homolog (Yeast) 2
  • GAR1 Ribonucleoprotein Homolog 3

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 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with GAR1 include dyskeratosis congenita and aplastic anemia. Among its related pathways are Gene Expression and 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

Promoters for GAR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GAR1 on UCSC Golden Path with GeneCards custom track

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

Genes around GAR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Gene 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

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:0005515 protein binding IEA,IPI 23685356
genes like me logo Genes that share ontologies with GAR1: view
genes like me logo Genes that share phenotypes with GAR1: view

Animal Model Products

miRNA for GAR1 Gene

miRTarBase miRNAs that target GAR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 2
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031429 box H/ACA snoRNP complex TAS 22527283
GO:0072589 box H/ACA scaRNP complex TAS 22527283
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

Gene Ontology (GO) - Biological Process for GAR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006364 rRNA processing IEA --
GO:0031118 rRNA pseudouridine synthesis TAS --
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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
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
mouse
(Mus musculus)
Mammalia Gar1 36
  • 91 (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

Sequence variations from dbSNP and Humsavar for GAR1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10365 -- 109,824,698(+) TGAAG(C/G)ATATT utr-variant-3-prime
rs2276326 -- 109,816,233(+) CGAGG(C/T)GGCAG reference, synonymous-codon
rs3839183 -- 109,824,192(-) AAAAA(-/A)GTGAT intron-variant
rs4353905 -- 109,824,782(+) AAAGT(A/G)GAAAG downstream-variant-500B
rs4266296 -- 109,814,662(+) CCACC(A/G)CGCCC upstream-variant-2KB

Variation tolerance for GAR1 Gene

Residual Variation Intolerance Score: 64.2% 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 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 and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • revesz syndrome
aplastic anemia
  • pulmonary fibrosis, idiopathic
- elite association - COSMIC cancer census association via MalaCards
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 3 4 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) 3 23
  3. NOLA1 gene mutations in acquired aplastic anemia. (PMID: 18989882) Pigullo S. … Dufour C. (Pediatr Blood Cancer 2009) 3 23
  4. Determinants of the interaction of the spinal muscular atrophy disease protein SMN with the dimethylarginine-modified box H/ACA small nucleolar ribonucleoprotein GAR1. (PMID: 12244096) Whitehead S.E. … Terns M.P. (J. Biol. Chem. 2002) 3 23
  5. The survival of motor neurons (SMN) protein interacts with the snoRNP proteins fibrillarin and GAR1. (PMID: 11509230) Pellizzoni L. … Dreyfuss G. (Curr. Biol. 2001) 3 23

Products for GAR1 Gene

Sources for GAR1 Gene

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