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Protein

Nucleolar protein 56

Gene

NOP56

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the early to middle stages of 60S ribosomal subunit biogenesis. Core component of box C/D small nucleolar ribonucleoprotein (snoRNP) particles. Required for the biogenesis of box C/D snoRNAs such U3, U8 and U14 snoRNAs.2 Publications

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • histone methyltransferase binding Source: UniProtKB
  • RNA binding Source: UniProtKB
  • snoRNA binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionRibonucleoprotein
Biological processRibosome biogenesis

Enzyme and pathway databases

ReactomeiR-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol

Names & Taxonomyi

Protein namesi
Recommended name:
Nucleolar protein 56
Alternative name(s):
Nucleolar protein 5A
Gene namesi
Name:NOP56
Synonyms:NOL5A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101361.14
HGNCiHGNC:15911 NOP56
MIMi614154 gene
neXtProtiNX_O00567

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Spinocerebellar ataxia 36 (SCA36)1 Publication
The disease is caused by mutations 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.
Disease descriptionA 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.
See also OMIM:614153

Keywords - Diseasei

Neurodegeneration, Spinocerebellar ataxia

Organism-specific databases

DisGeNETi10528
MalaCardsiNOP56
MIMi614153 phenotype
OpenTargetsiENSG00000101361
Orphaneti276198 Spinocerebellar ataxia type 36
PharmGKBiPA164724063

Polymorphism and mutation databases

BioMutaiNOP56

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002190251 – 594Nucleolar protein 56Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki87Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki230Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei314PhosphoserineCombined sources1
Modified residuei359Omega-N-methylarginineCombined sources1
Modified residuei466PhosphoserineBy similarity1
Modified residuei467PhosphoserineBy similarity1
Modified residuei468PhosphothreonineBy similarity1
Modified residuei511PhosphoserineCombined sources1
Modified residuei519PhosphoserineCombined sources1
Modified residuei520PhosphoserineCombined sources1
Modified residuei537PhosphoserineBy similarity1
Cross-linki540Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei561N6-acetyllysineBy similarity1
Modified residuei563PhosphoserineCombined sources1
Cross-linki564Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei569PhosphoserineCombined sources1
Modified residuei570PhosphoserineCombined sources1
Modified residuei579PhosphoserineCombined sources1
Modified residuei581PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO00567
MaxQBiO00567
PaxDbiO00567
PeptideAtlasiO00567
PRIDEiO00567
ProteomicsDBi47980

2D gel databases

SWISS-2DPAGEiO00567

PTM databases

iPTMnetiO00567
PhosphoSitePlusiO00567
SwissPalmiO00567

Expressioni

Gene expression databases

BgeeiENSG00000101361
ExpressionAtlasiO00567 baseline and differential
GenevisibleiO00567 HS

Organism-specific databases

HPAiCAB075757
HPA049918

Interactioni

Subunit structurei

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 assemble stepwise onto the snoRNA. Interacts NOP1 and NOP58. Interacts with NUFIP1, RUVBL1 and RUVBL2; RUVBL1:RUVBL2 seem to bridge the association of NOP56 with NUFIP1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MYCP011062EBI-396034,EBI-447544

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • histone methyltransferase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115783, 279 interactors
CORUMiO00567
IntActiO00567, 160 interactors
MINTiO00567
STRINGi9606.ENSP00000370589

Structurei

3D structure databases

ProteinModelPortaliO00567
SMRiO00567
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini292 – 410NopPROSITE-ProRule annotationAdd BLAST119

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi438 – 589Lys-richAdd BLAST152

Sequence similaritiesi

Belongs to the NOP5/NOP56 family.Curated

Phylogenomic databases

eggNOGiKOG2572 Eukaryota
COG1498 LUCA
GeneTreeiENSGT00550000075068
HOGENOMiHOG000196309
InParanoidiO00567
KOiK14564
OMAiLKFYESG
OrthoDBiEOG091G06JZ
PhylomeDBiO00567
TreeFamiTF105713

Family and domain databases

Gene3Di1.10.287.660, 2 hits
InterProiView protein in InterPro
IPR029012 Helix_hairpin_bin_sf
IPR012974 NOP5_N
IPR002687 Nop_dom
IPR036070 Nop_dom_sf
IPR012976 NOSIC
PfamiView protein in Pfam
PF01798 Nop, 1 hit
PF08156 NOP5NT, 1 hit
SMARTiView protein in SMART
SM00931 NOSIC, 1 hit
SUPFAMiSSF89124 SSF89124, 1 hit
PROSITEiView protein in PROSITE
PS51358 NOP, 1 hit

Sequencei

Sequence statusi: Complete.

O00567-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MVLLHVLFEH AVGYALLALK EVEEISLLQP QVEESVLNLG KFHSIVRLVA
60 70 80 90 100
FCPFASSQVA LENANAVSEG VVHEDLRLLL ETHLPSKKKK VLLGVGDPKI
110 120 130 140 150
GAAIQEELGY NCQTGGVIAE ILRGVRLHFH NLVKGLTDLS ACKAQLGLGH
160 170 180 190 200
SYSRAKVKFN VNRVDNMIIQ SISLLDQLDK DINTFSMRVR EWYGYHFPEL
210 220 230 240 250
VKIINDNATY CRLAQFIGNR RELNEDKLEK LEELTMDGAK AKAILDASRS
260 270 280 290 300
SMGMDISAID LINIESFSSR VVSLSEYRQS LHTYLRSKMS QVAPSLSALI
310 320 330 340 350
GEAVGARLIA HAGSLTNLAK YPASTVQILG AEKALFRALK TRGNTPKYGL
360 370 380 390 400
IFHSTFIGRA AAKNKGRISR YLANKCSIAS RIDCFSEVPT SVFGEKLREQ
410 420 430 440 450
VEERLSFYET GEIPRKNLDV MKEAMVQAEE AAAEITRKLE KQEKKRLKKE
460 470 480 490 500
KKRLAALALA SSENSSSTPE ECEEMSEKPK KKKKQKPQEV PQENGMEDPS
510 520 530 540 550
ISFSKPKKKK SFSKEELMSS DLEETAGSTS IPKRKKSTPK EETVNDPEEA
560 570 580 590
GHRSGSKKKR KFSKEEPVSS GPEEAVGKSS SKKKKKFHKA SQED
Length:594
Mass (Da):66,050
Last modified:October 31, 2006 - v4
Checksum:i17D81E25DEBD052F
GO

Sequence cautioni

The sequence CAA72789 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti17L → V in CAA72789 (PubMed:9372940).Curated1
Sequence conflicti427Q → QAE in CAA72789 (PubMed:9372940).Curated1
Sequence conflicti555G → R in CAA72789 (PubMed:9372940).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028793121I → V. Corresponds to variant dbSNP:rs2273137EnsemblClinVar.1
Natural variantiVAR_028794475M → T1 PublicationCorresponds to variant dbSNP:rs6753EnsemblClinVar.1
Natural variantiVAR_014471576V → A. Corresponds to variant dbSNP:rs5856EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y12065 mRNA Translation: CAA72789.1 Different initiation.
AL049712 Genomic DNA No translation available.
BC104791 mRNA Translation: AAI04792.1
BC104793 mRNA Translation: AAI04794.1
CCDSiCCDS13030.1
RefSeqiNP_006383.2, NM_006392.3
UniGeneiHs.376064

Genome annotation databases

EnsembliENST00000329276; ENSP00000370589; ENSG00000101361
GeneIDi10528
KEGGihsa:10528
UCSCiuc002wgh.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNOP56_HUMAN
AccessioniPrimary (citable) accession number: O00567
Secondary accession number(s): Q2M3T6, Q9NQ05
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: October 31, 2006
Last modified: July 18, 2018
This is version 181 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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