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Gene : GAR1 Homo sapiens

Name  ? GAR1 ribonucleoprotein Cytological Location  4q25
Brief Description  GAR1 ribonucleoprotein
Description  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]
  • synonyms:
  • NOLA1,
  • GAR1 ribonucleoprotein homolog (yeast),
  • NOLA1,
  • GAR1,
  • HGNC:14264,
  • uc003hzu.4,
  • NM_018983,
  • AJ276003,
  • OTTHUMG00000161108,
  • nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)
  • identifiers:
  • 54433,
  • ENSG00000109534,
  • GAR1

Genome feature

Region: gene ? Length: 9228  
Location: 4:109815510-109824737 Cyto location: 4q25


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3753 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results