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Aliases for NOP56 Gene

Aliases for NOP56 Gene

  • NOP56 Ribonucleoprotein 2 3 5
  • Nucleolar Protein 5A (56kDa With KKE/D Repeat) 2 3
  • NOL5A 3 4
  • Nucleolar Protein 5A (56kD With KKE/D Repeat) 2
  • NOP56 Ribonucleoprotein Homolog (Yeast) 2
  • NOP56 Ribonucleoprotein Homolog 3
  • Spinocerebellar Ataxia 36 2
  • Nucleolar Protein 5A 4
  • SCA36 3

External Ids for NOP56 Gene

Previous HGNC Symbols for NOP56 Gene

  • NOL5A

Previous GeneCards Identifiers for NOP56 Gene

  • GC20P002606
  • GC20P002611
  • GC20P002618
  • GC20P002636
  • GC20P002646
  • GC20P002656
  • GC20P002670
  • GC20P002681
  • GC20P002689
  • GC20P002698
  • GC20P002708
  • GC20P002723
  • GC20P002736
  • GC20P002755
  • GC20P002757

Summaries for NOP56 Gene

Entrez Gene Summary for NOP56 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. 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, Jan 2009]

GeneCards Summary for NOP56 Gene

NOP56 (NOP56 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NOP56 include spinocerebellar ataxia 36 and spinocerebellar ataxia type36. Among its related pathways are Gene Expression and Transport to the Golgi and subsequent modification. GO annotations related to this gene include poly(A) RNA binding and snoRNA binding.

UniProtKB/Swiss-Prot for NOP56 Gene

  • 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.

Gene Wiki entry for NOP56 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOP56 Gene

Genomics for NOP56 Gene

Regulatory Elements for NOP56 Gene

Promoters for NOP56 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NOP56 on UCSC Golden Path with GeneCards custom track

Genomic Location for NOP56 Gene

Chromosome:
20
Start:
2,652,145 bp from pter
End:
2,658,393 bp from pter
Size:
6,249 bases
Orientation:
Plus strand

Genomic View for NOP56 Gene

Genes around NOP56 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOP56 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOP56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOP56 Gene

Proteins for NOP56 Gene

  • Protein details for NOP56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00567-NOP56_HUMAN
    Recommended name:
    Nucleolar protein 56
    Protein Accession:
    O00567
    Secondary Accessions:
    • Q2M3T6
    • Q9NQ05

    Protein attributes for NOP56 Gene

    Size:
    594 amino acids
    Molecular mass:
    66050 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA72789.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for NOP56 Gene

Proteomics data for NOP56 Gene at MOPED

Post-translational modifications for NOP56 Gene

  • Ubiquitination at Lys 288, Lys 320, Lys 333, Lys 375, and Lys 396
  • Modification sites at PhosphoSitePlus

Other Protein References for NOP56 Gene

Antibody Products

No data available for DME Specific Peptides for NOP56 Gene

Domains & Families for NOP56 Gene

Protein Domains for NOP56 Gene

Graphical View of Domain Structure for InterPro Entry

O00567

UniProtKB/Swiss-Prot:

NOP56_HUMAN :
  • Contains 1 Nop domain.
  • Belongs to the NOP5/NOP56 family.
Domain:
  • Contains 1 Nop domain.
Family:
  • Belongs to the NOP5/NOP56 family.
genes like me logo Genes that share domains with NOP56: view

No data available for Gene Families for NOP56 Gene

Function for NOP56 Gene

Molecular function for NOP56 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for NOP56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 9372940
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with NOP56: view
genes like me logo Genes that share phenotypes with NOP56: view

Human Phenotype Ontology for NOP56 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for NOP56 Gene

miRTarBase miRNAs that target NOP56

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NOP56 Gene

Localization for NOP56 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOP56 Gene

Nucleus, nucleolus. Cytoplasm. Nucleus, nucleoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOP56 Gene COMPARTMENTS Subcellular localization image for NOP56 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NOP56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005732 small nucleolar ribonucleoprotein complex IDA 17636026
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with NOP56: view

Pathways & Interactions for NOP56 Gene

genes like me logo Genes that share pathways with NOP56: view

Gene Ontology (GO) - Biological Process for NOP56 Gene

None

No data available for SIGNOR curated interactions for NOP56 Gene

Drugs & Compounds for NOP56 Gene

No Compound Related Data Available

Transcripts for NOP56 Gene

Unigene Clusters for NOP56 Gene

NOP56 ribonucleoprotein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NOP56 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - - - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: - - - - - - - - - - -
SP12: - - - - -
SP13: - - - - - -
SP14: - - - - - -
SP15: - - - - -
SP16: - -
SP17:
SP18:
SP19: - - - -
SP20: - - - - - -
SP21:
SP22:
SP23:
SP24:
SP25:
SP26: -
SP27:
SP28:

ExUns: 10e ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b · 20c · 20d
SP1:
SP2:
SP3:
SP4:
SP5: - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - - - - -
SP9: - - - - -
SP10: - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: - - -
SP18: - - -
SP19:
SP20:
SP21: -
SP22: - - - - -
SP23:
SP24: - - - -
SP25: -
SP26:
SP27:
SP28:

Relevant External Links for NOP56 Gene

GeneLoc Exon Structure for
NOP56
ECgene alternative splicing isoforms for
NOP56

Expression for NOP56 Gene

mRNA expression in normal human tissues for NOP56 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NOP56 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.3) and Tlymphocyte (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NOP56 Gene



SOURCE GeneReport for Unigene cluster for NOP56 Gene Hs.376064

genes like me logo Genes that share expression patterns with NOP56: view

Protein tissue co-expression partners for NOP56 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NOP56 Gene

Orthologs for NOP56 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NOP56 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NOP56 35
  • 91.11 (n)
  • 94.43 (a)
NOP56 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOP56 35
  • 91.03 (n)
  • 94.97 (a)
NOP56 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nop56 35
  • 86.39 (n)
  • 92.16 (a)
Nop56 16
Nop56 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NOP56 35
  • 99.21 (n)
  • 98.82 (a)
NOP56 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nop56 35
  • 87.39 (n)
  • 92.72 (a)
oppossum
(Monodelphis domestica)
Mammalia NOP56 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NOP56 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOP56 35
  • 74.7 (n)
  • 81.33 (a)
NOP56 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOP56 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nop56 35
  • 72.36 (n)
  • 79.12 (a)
Str.8159 35
African clawed frog
(Xenopus laevis)
Amphibia XNop56 35
zebrafish
(Danio rerio)
Actinopterygii nol5a 35
nop56 35
  • 73.42 (n)
  • 82.23 (a)
nop56 36
  • 73 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9727 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002063 35
  • 65.98 (n)
  • 67.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nop56 35
  • 65.13 (n)
  • 67.21 (a)
Nop56 36
  • 63 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K07C5.4 35
  • 57.91 (n)
  • 60.23 (a)
K07C5.4 36
  • 56 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL144C 35
  • 56.87 (n)
  • 54.5 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12254g 35
  • 54.39 (n)
  • 54.39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NOP56 35
  • 53.98 (n)
  • 55.22 (a)
NOP56 36
  • 51 (a)
OneToOne
NOP56 38
thale cress
(Arabidopsis thaliana)
eudicotyledons NOP56 35
  • 60.82 (n)
  • 59.48 (a)
soybean
(Glycine max)
eudicotyledons Gma.2258 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.3462 35
rice
(Oryza sativa)
Liliopsida Os03g0352300 35
  • 60.74 (n)
  • 61.61 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9201 35
corn
(Zea mays)
Liliopsida Zm.7010 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3107 35
bread mold
(Neurospora crassa)
Ascomycetes NCU06943 35
  • 56.77 (n)
  • 52.2 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.10c 35
  • 55.35 (n)
  • 56.84 (a)
Species with no ortholog for NOP56:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NOP56 Gene

ENSEMBL:
Gene Tree for NOP56 (if available)
TreeFam:
Gene Tree for NOP56 (if available)

Paralogs for NOP56 Gene

(2) SIMAP similar genes for NOP56 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for NOP56 Gene

genes like me logo Genes that share paralogs with NOP56: view

No data available for Paralogs for NOP56 Gene

Variants for NOP56 Gene

Sequence variations from dbSNP and Humsavar for NOP56 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_014471 -
VAR_028793 -
VAR_028794 -
rs4289262 -- 2,650,762(+) GTGTT(C/T)ATATA upstream-variant-2KB
rs4296498 -- 2,650,623(+) TCTCT(C/G)TAAGT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NOP56 Gene

Variant ID Type Subtype PubMed ID
nsv470535 CNV Gain 18288195
nsv458852 CNV Loss 19166990

Variation tolerance for NOP56 Gene

Residual Variation Intolerance Score: 43.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.19; 87.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOP56 Gene

HapMap Linkage Disequilibrium report
NOP56
Human Gene Mutation Database (HGMD)
NOP56

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOP56 Gene

Disorders for NOP56 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NOP56 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 36
  • spinocerebellar ataxia type 36
spinocerebellar ataxia type36
  • spinocerebellar ataxia 36
oromandibular dystonia
spinal and bulbar muscular atrophy of kennedy
  • kennedy's disease
treacher collins syndrome 1
  • treacher collins syndrome
- elite association - COSMIC cancer census association via MalaCards
Search NOP56 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOP56_HUMAN
  • Spinocerebellar ataxia 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. {ECO:0000269 PubMed:21683323}. Note=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.

Relevant External Links for NOP56

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOP56
genes like me logo Genes that share disorders with NOP56: view

No data available for Genatlas for NOP56 Gene

Publications for NOP56 Gene

  1. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. (PMID: 21683323) Kobayashi H. … Koizumi A. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs. (PMID: 19331828) Lechertier T. … Roussel P. (Exp. Cell Res. 2009) 3 23
  3. Evidence that the AAA+ proteins TIP48 and TIP49 bridge interactions between 15.5K and the related NOP56 and NOP58 proteins during box C/D snoRNP biogenesis. (PMID: 19620283) McKeegan K.S. … Watkins N.J. (Mol. Cell. Biol. 2009) 3 23
  4. Conserved stem II of the box C/D motif is essential for nucleolar localization and is required, along with the 15.5K protein, for the hierarchical assembly of the box C/D snoRNP. (PMID: 12417735) Watkins N.J. … LA1hrmann R. (Mol. Cell. Biol. 2002) 3 23
  5. Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. (PMID: 9372940) Gautier T. … Hurt E. (Mol. Cell. Biol. 1997) 2 3

Products for NOP56 Gene

Sources for NOP56 Gene

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