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Gene : FBL Homo sapiens

Name  ? fibrillarin Cytological Location  19q13.2
Brief Description  fibrillarin
Description  This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
  • synonyms:
  • Nop1,
  • Nop1,
  • uc002omn.4,
  • FLRN,
  • HGNC:3599,
  • FBL,
  • OTTHUMG00000182581,
  • NM_001436,
  • FIB,
  • FIB,
  • RNU3IP1,
  • RNU3IP1,
  • FLRN,
  • AC005393
  • identifiers:
  • 2091,
  • ENSG00000105202,
  • FBL

Genome feature

Region: gene ? Length: 11938  
Location: 19:39834458-39846395 reverse strand Cyto location: 19q13.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

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]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

858 SN Ps

5 Cross References

17 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results