NOP56
Nucleolar protein 56
Also known as: NOL5A, NOP56_HUMAN, SCA36
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00567
- Gene
- NOP56
- Ensembl
- ENSG00000101361
- Chromosome
- 20
- Canonical length
- 594 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoli fibrillar center
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
594 residues, UniProt reviewed canonical sequence.
>O00567|NOP56
1 MVLLHVLFEH AVGYALLALK EVEEISLLQP QVEESVLNLG KFHSIVRLVA FCPFASSQVA
61 LENANAVSEG VVHEDLRLLL ETHLPSKKKK VLLGVGDPKI GAAIQEELGY NCQTGGVIAE
121 ILRGVRLHFH NLVKGLTDLS ACKAQLGLGH SYSRAKVKFN VNRVDNMIIQ SISLLDQLDK
181 DINTFSMRVR EWYGYHFPEL VKIINDNATY CRLAQFIGNR RELNEDKLEK LEELTMDGAK
241 AKAILDASRS SMGMDISAID LINIESFSSR VVSLSEYRQS LHTYLRSKMS QVAPSLSALI
301 GEAVGARLIA HAGSLTNLAK YPASTVQILG AEKALFRALK TRGNTPKYGL IFHSTFIGRA
361 AAKNKGRISR YLANKCSIAS RIDCFSEVPT SVFGEKLREQ VEERLSFYET GEIPRKNLDV
421 MKEAMVQAEE AAAEITRKLE KQEKKRLKKE KKRLAALALA SSENSSSTPE ECEEMSEKPK
481 KKKKQKPQEV PQENGMEDPS ISFSKPKKKK SFSKEELMSS DLEETAGSTS IPKRKKSTPK
541 EETVNDPEEA GHRSGSKKKR KFSKEEPVSS GPEEAVGKSS SKKKKKFHKA SQEDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NOP56 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.41
- Highest tissue expression
- 60 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 60 nTPM
- skeletal muscle: 59 nTPM
- tonsil: 58 nTPM
- bone marrow: 57 nTPM
- adipose tissue: 51 nTPM
- spleen: 50 nTPM
Single-cell type
- oocytes: 304 nCPM
- differentiating spermatogonia: 232 nCPM
- esophageal basal cells: 196 nCPM
- erythrocyte progenitors: 167 nCPM
- migrating cytotrophoblasts: 148 nCPM
- gastric progenitor cells: 141 nCPM
Immune cell
- MAIT T-cell: 41 nTPM
- plasmacytoid DC: 41 nTPM
- memory CD8 T-cell: 37 nTPM
- memory CD4 T-cell: 36 nTPM
- memory B-cell: 36 nTPM
- naive CD4 T-cell: 34 nTPM
Brain region
- hypothalamus: 46 nTPM
- pons: 43 nTPM
- white matter: 43 nTPM
- cerebral cortex: 41 nTPM
- hippocampal formation: 37 nTPM
- midbrain: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NOP56.
Disease | AllUniProt
Conditions NOP56 is implicated in, by any mechanism.
- Spinocerebellar ataxia 36 (SCA36) MIM:614153
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 131 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spinocerebellar ataxia type 36
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.4
- gnomAD pLI
- 0.62
- gnomAD missense Z
- 0.6
- DepMap mean gene effect
- -1.35
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NOP56 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NOP56 as an antibody target. Whether an autoantibody or antibody against NOP56 could matter depends on whether native NOP56 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NOP56 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NOP56 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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