NOP56 (NOP56 ribonucleoprotein)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
NOL5A,SCA36
FUSION GENES

Other Information

Locus ID:

NCBI: 10528
MIM: 614154
HGNC: 15911
Ensembl: ENSG00000101361

Variants:

dbSNP: 10528
ClinVar: 10528
TCGA: ENSG00000101361
COSMIC: NOP56

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101361ENST00000329276O00567
ENSG00000101361ENST00000415272H0Y653
ENSG00000101361ENST00000445139Q5JXT2
ENSG00000101361ENST00000467196H0YDU4
ENSG00000101361ENST00000651302A0A494C128

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Association of TriC/CCT with target proteins during biosynthesisREACTOMER-HSA-390471
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
216833232011Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.71
127773852003Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.46
196202832009Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis.32
224925592012'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.12
302205592018Box C/D snoRNP Autoregulation by a cis-Acting snoRNA in the NOP56 Pre-mRNA.12
193318282009Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs.9
223533752012Cognitive and affective impairments of a novel SCA/MND crossroad mutation Asidan.2
266613282016Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China.1
266630712015[Recent advances in clinical and genetic research of spinocerebellar ataxia type 36].0
320118312020Analysis of the rRNA methylation complex components in pediatric B-cell precursor acute lymphoblastic leukemia: A pilot study.0

Citation

Dessen P

NOP56 (NOP56 ribonucleoprotein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70907/nop56