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NOP56 NOP56 ribonucleoprotein [ Homo sapiens (human) ]

Gene ID: 10528, updated on 6-Sep-2020

Summary

Official Symbol
NOP56provided by HGNC
Official Full Name
NOP56 ribonucleoproteinprovided by HGNC
Primary source
HGNC:HGNC:15911
See related
Ensembl:ENSG00000101361 MIM:614154
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]
Expression
Ubiquitous expression in lymph node (RPKM 34.3), appendix (RPKM 31.9) and 25 other tissues See more
Orthologs

Genomic context

See NOP56 in Genome Data Viewer
Location:
20p13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (2652632..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 NOP56 ribonucleoprotein repeat instability region Neighboring gene small nucleolar RNA, C/D box 110 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 uncharacterized LOC105372507 Neighboring gene small nucleolar RNA, C/D box 57 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
cadherin binding HDA PubMed 
histone methyltransferase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
snoRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
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
PubMed 
box C/D snoRNP complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleolus TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 

General protein information

Preferred Names
nucleolar protein 56
Names
NOP56 ribonucleoprotein homolog
nucleolar protein 5A (56kDa with KKE/D repeat)

NCBI Reference Sequences (RefSeq)

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
    5101..10862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006392.4NP_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, BC104793, DA805367
    Consensus CDS
    CCDS13030.1
    UniProtKB/Swiss-Prot
    O00567
    Related
    ENSP00000370589.3, ENST00000329276.10
    Conserved Domains (3) summary
    smart00931
    Location:168219
    NOSIC; NOSIC (NUC001) domain
    pfam01798
    Location:174405
    Nop; snoRNA binding domain, fibrillarin
    pfam08156
    Location:570
    NOP5NT; NOP5NT (NUC127) domain

RNA

  1. NR_027700.3 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
  2. NR_145428.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon 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)
    BC035369, BC104793, CN371696, DA805367

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    2652632..2658393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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