ID:NOP56_HUMAN DESCRIPTION: RecName: Full=Nucleolar protein 56; AltName: Full=Nucleolar protein 5A; FUNCTION: Involved in the early to middle stages of 60S ribosomal subunit biogenesis. 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. Interacts with NOP1 and NOP58. SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm (By similarity). DISEASE: Defects in NOP56 are the cause of spinocerebellar ataxia type 36 (SCA36) [MIM:614153]. A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicated clinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motor neuron system. Ataxic symptoms, such as gait and truncal instability, ataxic dysarthria, and uncoordinated limbs, start in late forties to fifties. Characteristically, affected individuals exhibit tongue atrophy with fasciculation. Progression of motor neuron involvement is typically limited to the tongue and main proximal skeletal muscles in both upper and lower extremities. Note=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. SIMILARITY: Contains 1 Nop domain. SEQUENCE CAUTION: Sequence=CAA72789.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00567
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC104791 - Homo sapiens NOP56 ribonucleoprotein homolog (yeast), mRNA (cDNA clone MGC:132451 IMAGE:8143794), complete cds. BC104793 - Homo sapiens NOP56 ribonucleoprotein homolog (yeast), mRNA (cDNA clone MGC:132453 IMAGE:8143796), complete cds. AK292721 - Homo sapiens cDNA FLJ76962 complete cds, highly similar to Homo sapiens nucleolar protein 5A (56kDa with KKE/D repeat) (NOL5A), mRNA. BX647439 - Homo sapiens mRNA; cDNA DKFZp686B1699 (from clone DKFZp686B1699). BC035369 - Homo sapiens NOP56 ribonucleoprotein homolog (yeast), mRNA (cDNA clone IMAGE:5177114). AB590892 - Synthetic construct DNA, clone: pFN21AE2017, Homo sapiens NOP56 gene for NOP56 ribonucleoprotein homolog, without stop codon, in Flexi system. Y12065 - Homo sapiens mRNA for nucleolar protein hNop56. BC018421 - Homo sapiens NOP56 ribonucleoprotein homolog (yeast), mRNA (cDNA clone IMAGE:4448930), partial cds. BX647513 - Homo sapiens mRNA; cDNA DKFZp686L04199 (from clone DKFZp686L04199). JD019211 - Sequence 235 from Patent EP1572962. JD031897 - Sequence 12921 from Patent EP1572962. JD035346 - Sequence 16370 from Patent EP1572962. AK097186 - Homo sapiens cDNA FLJ39867 fis, clone SPLEN2015310, highly similar to NUCLEOLAR PROTEIN NOP56. BX641071 - Homo sapiens mRNA; cDNA DKFZp686H24193 (from clone DKFZp686H24193). MH499886 - Homo sapiens NOP56 ribonucleoprotein transcript variant 2 lncRNA (NOP56), complete sequence. BC004937 - Homo sapiens NOP56 ribonucleoprotein homolog (yeast), mRNA (cDNA clone IMAGE:3608097), complete cds. KJ902121 - Synthetic construct Homo sapiens clone ccsbBroadEn_11515 NOP56 gene, encodes complete protein. JD349088 - Sequence 330112 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O00567 (Reactome details) participates in the following event(s):
R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone) R-HSA-6790907 Box C/D snoRNP methylates ribonucleotides in pre-rRNA yielding 2'-O-methylribonucleotides R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis R-HSA-390466 Chaperonin-mediated protein folding R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-391251 Protein folding R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-392499 Metabolism of proteins R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
