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    NOP56 NOP56 ribonucleoprotein [ Homo sapiens (human) ]

    Gene ID: 10528, updated on 26-Jul-2016
    Official Symbol
    NOP56provided by HGNC
    Official Full Name
    NOP56 ribonucleoproteinprovided by HGNC
    Primary source
    HGNC:HGNC:15911
    See related
    Ensembl:ENSG00000101361 HPRD:10119; MIM:614154; Vega:OTTHUMG00000031703
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NOL5A; SCA36
    Summary
    Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]
    Orthologs
    Location:
    20p13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (2652532..2658393)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2633178..2639039)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372504 Neighboring gene transmembrane channel like 2 Neighboring gene uncharacterized LOC105372505 Neighboring gene small nucleolar RNA, C/D box 110 Neighboring gene uncharacterized LOC105372507 Neighboring gene microRNA 1292 Neighboring gene small nucleolar RNA, H/ACA box 51 Neighboring gene small nucleolar RNA, C/D box 86 Neighboring gene small nucleolar RNA, C/D box 56 Neighboring gene small nucleolar RNA, C/D box 57 Neighboring gene isocitrate dehydrogenase 3 (NAD(+)) beta Neighboring gene uncharacterized LOC105372506 Neighboring gene early B-cell factor 4

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem (from REACTOME)
      Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystemTRiC has broad recognition specificities, but in the cell it interacts with only a defined set of substrates (Yam et al. 2008). Many of its substrates that are targeted during biosynthesis are conse...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Major pathway of rRNA processing in the nucleolus, organism-specific biosystem (from REACTOME)
      Major pathway of rRNA processing in the nucleolus, organism-specific biosystemIn humans, a 47S precursor rRNA (pre-rRNA) is transcribed by RNA polymerase I from rRNA-encoding genes (rDNA) at the boundary of the fibrillar center and the dense fibrillar components of the nucleol...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    • Ribosome biogenesis in eukaryotes, organism-specific biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, organism-specific biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • Ribosome biogenesis in eukaryotes, conserved biosystem (from KEGG)
      Ribosome biogenesis in eukaryotes, conserved biosystemRibosomes are the cellular factories responsible for making proteins. In eukaryotes, ribosome biogenesis involves the production and correct assembly of four rRNAs and about 80 ribosomal proteins. It...
    • rRNA modification in the nucleus, organism-specific biosystem (from REACTOME)
      rRNA modification in the nucleus, organism-specific biosystemHuman ribosomal RNAs (rRNAs) contain about 200 residues that are enzymatically modified after transcription in the nucleolus (Maden and Khan 1977, Maden 1988, Maden and Hughes 1997, reviewed in Herna...
    • rRNA processing, organism-specific biosystem (from REACTOME)
      rRNA processing, organism-specific biosystemEach eukaryotic cytosolic ribosome contains 4 molecules of RNA: 28S rRNA (25S rRNA in yeast), 5.8S rRNA, and 5S rRNA in the 60S subunit and 18S rRNA in the 40S subunit. The 18S rRNA, 5.8S rRNA, and 2...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone methyltransferase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    snoRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    rRNA modification IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    rRNA processing TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    box C/D snoRNP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    box C/D snoRNP complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    pre-snoRNP complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small nucleolar ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small-subunit processome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    nucleolar protein 56
    Names
    NOP56 ribonucleoprotein homolog
    nucleolar protein 5A (56kDa with KKE/D repeat)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032136.1 RefSeqGene

      Range
      5001..10862
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006392.3NP_006383.2  nucleolar protein 56

      See identical proteins and their annotated locations for NP_006383.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      BC035369, BC104791, BC104793, DA805367
      Consensus CDS
      CCDS13030.1
      UniProtKB/Swiss-Prot
      O00567
      Related
      ENSP00000370589, OTTHUMP00000030035, ENST00000329276, OTTHUMT00000077631
      Conserved Domains (4) summary
      COG1498
      Location:48412
      SIK1; RNA processing factor Prp31, contains Nop domain [Translation, ribosomal structure and biogenesis]
      pfam01798
      Location:263411
      Nop; Putative snoRNA binding domain
      pfam08060
      Location:168219
      NOSIC; NOSIC (NUC001) domain
      pfam08156
      Location:470
      NOP5NT; NOP5NT (NUC127) domain

    RNA

    1. NR_027700.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The extra sequence introduces an in-frame stop codon that makes this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK292721, BC004937, BC104791, CV338938, DA805367

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      2652532..2658393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      2633579..2639446
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)