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Details on Person UniProt:O00567 NOP56
| Class:Id | ReferenceGeneProduct:60323 |
|---|---|
| _chainChangeLog | chain:1-594 added on Fri February 6 2015 |
| _displayName | UniProt:O00567 NOP56 |
| _timestamp | 2025-05-21 21:31:50 |
| chain | chain:1-594 |
| checksum | 17D81E25DEBD052F |
| comment | FUNCTION Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs (PubMed:12777385, PubMed:15574333). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) complexes that function in methylation of multiple sites on ribosomal RNAs (rRNAs) and messenger RNAs (mRNAs) (PubMed:12777385, PubMed:39570315).SUBUNIT Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with TCOF1 in an RNA-independent manner. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles; the core proteins SNU13, NOP56, NOP58 and FBL or FBLL1 assemble stepwise onto the snoRNA. Interacts with NOP1 and NOP58. Interacts with NUFIP1, RUVBL1 and RUVBL2; RUVBL1:RUVBL2 seem to bridge the association of NOP56 with NUFIP1. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3 (PubMed:34516797). Interacts with NOP2 and FBL (PubMed:36161484).INTERACTION The disease is caused by variants affecting the gene represented in this entry. Caused by large hexanucleotide CGCCTG repeat expansions within intron 1. These expansions induce RNA foci and sequester the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, a microRNA gene located just 19 bp 3' of the GGCCTG repeat, is significantly decreased.SIMILARITY Belongs to the NOP5/NOP56 family.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: Nucleolar protein 56 alternativeName: Nucleolar protein 5A |
| geneName | NOP56 NOL5A |
| identifier | O00567 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Cytoplasm Direct protein sequencing Isopeptide bond Methylation Neurodegeneration Nucleus Phosphoprotein Proteomics identification Reference proteome Ribonucleoprotein Ribosome biogenesis Spinocerebellar ataxia Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | NOP56 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8996133] ENSEMBL:ENSG00000101361 NOP56 [Homo sapiens] |
| secondaryIdentifier | NOP56_HUMAN Q2M3T6 Q9NQ05 |
| sequenceLength | 594 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:391293] NOP56 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6790696] NOP56 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O00567 NOP56 (60323)
