NOP56 Gene
protein-coding GIFtS: 60
GCID: GC20P002708
|
|
NOP56 ribonucleoprotein(Previous names: nucleolar protein 5A (56kD with KKE/D repeat), nucleolar...) (Previous symbol: NOL5A)
| |
Aliases for NOP56 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
| This gene clusters with an RNA gene Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| NOP56 Ribonucleoprotein1 2 | | Nucleolar Protein 5A (56kD With KKE/D Repeat)1 | | NOL5A1 2 3 | | NOP56 Ribonucleoprotein Homolog2 | | SCA361 2 | | Nucleolar Protein 562 | | Nucleolar Protein 5A (56kDa With KKE/D Repeat)1 2 | | Nucleolar Protein 5A3 | | NOP56 Ribonucleoprotein Homolog (Yeast)1 | | |
| External Ids: | HGNC: 159111 | Entrez Gene: 105282 | Ensembl: ENSG000001013617 | OMIM: 6141545 | UniProtKB: O005673 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n407984 | |
Export aliases for NOP56 gene to outside databasesPrevious GC identifers: GC20P002606 GC20P002611 GC20P002618 GC20P002636 GC20P002646 GC20P002656 GC20P002670 GC20P002681 GC20P002689 GC20P002698
Summaries for NOP56 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for NOP56: 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 proteinencoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Multiple transcript variantsencoding several different isoforms have been found for this gene, but the full-length nature of most of them has notbeen determined. (provided by RefSeq, Jan 2009) UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567Function: Involved in the early to middle stages of 60S ribosomal subunit biogenesis Gene Wiki entry for NOP56 (NOL5A)
|
Genomic Views for NOP56 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000020.10 NC_018931.1 NT_011387.8
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the NOP56 gene promoter: Pax-6 GATA-1 AREB6 HEN1 MZF-1 S8 IRF-2 COMP1 ZID Other transcription factors
Search SABiosciences Chromatin IP Primers for NOP56
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOP56 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13NOP56 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20P002708: view genomic region
(about GC identifiers)
Start:
|
2,632,791 bp from pter |
End:
|
2,639,039 bp from pter |
Size:
|
6,249 bases |
Orientation:
|
plus strand |
|
Proteins for NOP56 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567 (See
protein sequence)Recommended Name: Nucleolar protein 56 Size: 594 amino acids; 66050 Da
Subunit: Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomalproteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interactswith TCOF1 in an RNA-independent manner. Interacts with NOP1 and NOP58
Subcellular location: Nucleus, nucleolus. Cytoplasm (By similarity)
Sequence caution: Sequence=CAA72789.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2M3T6 Q9NQ05Explore the universe of human proteins at neXtProt for NOP56: NX_O00567
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00567 NOP56 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006383.2 ENSEMBL proteins: ENSP00000370589 ENSP00000388497 ENSP00000434317 ENSP00000403199 Reactome Protein details: O00567 Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
NOP56 for ontologies About GeneDecksing
NOP56 Antibody Products: Assay Products for NOP56: |
Protein
Domains / Families for NOP56 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
NOP56 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O00567ProtoNet protein and cluster: O00567 3 Blocks protein families: IPB002687 Pre-mRNA processing ribonucleoprotein IPB012974 NOP5 IPB012976 NOSIC
UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567Similarity: Belongs to the NOP5/NOP56 familySimilarity: Contains 1 Nop domain |
Function for NOP56 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567Function: Involved in the early to middle stages of 60S ribosomal subunit biogenesis
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NOP56 (NM_006392) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NOP56 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOP56  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOP56 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
NOP56 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for NOP56:
|
Pathways & Interactions for NOP56 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Chaperonin-mediated protein folding | | | 2 | Ribosome biogenesis in eukaryotes | | | 3 | Asparagine N-linked glycosylation | |
Pathway sources See GeneCards unified pathways Show all pathways
4
Reactome Pathways for NOP56
1
Kegg Pathway (Kegg details for NOP56):
NOP56 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NOP56
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
 5/379 Interacting proteins for NOP56 (O005672, 3 ENSP000003705894) via UniProtKB, MINT, STRING, and/or I2D (see all 379)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
NOP56 for ontologies About GeneDecksing
|
Drugs & Compounds for NOP56 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for NOP56 Search CenterWatch for drugs/clinical trials and news about NOP56 
|
Transcripts for NOP56 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for NOP56 gene: NM_006392.3 Unigene Cluster for NOP56: NOP56 ribonucleoprotein Hs.376064 [show with all ESTs]Unigene Representative Sequence: BX64107118 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000329276(uc010zpy.2 uc002wgh.3 uc002wgi.3) ENST00000494697 ENST00000470143 ENST00000469588 ENST00000445139 ENST00000460258 ENST00000496775 ENST00000480992 ENST00000484998 ENST00000467196 ENST00000415272 ENST00000492135 ENST00000466447 ENST00000480447 ENST00000490753 ENST00000471023 ENST00000462630 ENST00000467857
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: NOP56 (NM_006392) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for NOP56 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOP56  |
Additional cDNA sequence: AK021907.1 AK292721.1 BC004937.1 BC018421.1 BC035369.1 BC104791.1 BC104793.1 BX641071.1 BX647439.1 BX647513.1 NR_027700.2 Y12065.1 24/37 DOTS entries (see all 37): DT.97857666 DT.450054 DT.95251178 DT.120797756 DT.101985383 DT.95083089 DT.97808334 DT.95083094 DT.100867394 DT.91767226 DT.120797703 DT.97862567 DT.91767219 DT.100867393 DT.95292005 DT.100867399 DT.100039282 DT.100867400 DT.120797810 DT.120797843 DT.100867397 DT.120797695 DT.91767189 DT.91767215 24/897 AceView cDNA sequences (see all 897): BM449556 X96656 AI915071 AW954504 BP431269 AA075702 BE796327 W86266 BM845880 BE791398 BP368618 BM807085 AA614039 BI522579 CR598249 CK429173 BQ672802 AA609807 BM773233 CB153026 BM794701 BC004937 AA082606 H98955 GeneLoc Exon Structure
5/28 Alternative Splicing Database (ASD) splice patterns (SP) for NOP56 (see all 28) About this scheme
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | |   | |   | |   | |   |
| 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: | |   | |   | |   | |   | |   | |   | |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for NOP56
|
Expression for NOP56 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| NOP56 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAGGAAGCAA
About this image See NOP56 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for NOP56
SOURCE GeneReport for Unigene cluster: Hs.376064 SABiosciences Custom PCR Arrays for NOP56
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NOP56 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NOP56 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NOP56 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOP56 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOP56 |
Orthologs for NOP56 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for NOP56 gene from 9/40 species (see all 40) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
chicken (Gallus gallus) |
Aves |
NOP561 |
NOP56 ribonucleoprotein homolog (yeast) |
73.78(n) 79.62(a) |
  |
426574 NM_001031388.1 NP_001026559.1 |
lizard (Anolis carolinensis) |
Reptilia |
NOP566 |
-- |
67(a) |
1 ↔ 1 |
GL343574.1(161258-176636) |
African clawed frog (Xenopus laevis) |
Amphibia |
XNop562 |
XNop56 protein |
76.06(n) |
  |
AJ311840.1 |
zebrafish (Danio rerio) |
Actinopterygii |
nol5a2 |
nucleolar protein 5A |
75.65(n) |
  |
394196 BC056732.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
Nop561 |
CG13849-PA |
63(n) 63.69(a) |
  |
42633 NM_142783.2 NP_651040.3 |
worm (Caenorhabditis elegans) |
Secernentea |
K07C5.41 |
Protein K07C5.4 |
57.4(n) 58.81(a) |
  |
179442 NM_073259.6 NP_505660.1 |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes |
NOP56(YLR197W)4 NOP561 |
Essential evolutionarily-conserved nucleolar protein more4 Nop56p1 |
52.49(n)1 52.97(a)1 |
  |
12(546097-547611)4 8508941, 4 NP_013298.11, 4 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT3G128601 |
NOP56-like pre RNA processing ribonucleoprotein |
55.65(n) 55.78(a) |
  |
820468 NM_112122.3 NP_187892.2 |
rice (Oryza sativa) |
Liliopsida |
AK069305.12 |
-- |
75.57(n) |
  |
AK069305.1 |
ENSEMBL Gene Tree for NOP56 (if available) TreeFam Gene Tree for NOP56 (if available)  |
Paralogs for NOP56 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for NOP56 gene
2 SIMAP similar genes for NOP56 using alignment to 6 protein entries: NOP56_HUMAN (see all proteins):NOP58 PRPF31
NOP56 for paralogs About GeneDecksing
3 Pseudogenes.org Pseudogenes for NOP56 PGOHUM00000258682 PGOHUM00000260120 PGOHUM00000236415
|
Genomic Variants for NOP56 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 20 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for NOP56 (2632791 - 2639039 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for NOP56: -- Human Gene Mutation Database (HGMD): NOP56
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NOP56 |
|
Disorders
/ Diseases for NOP56 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
NOP56 for disorders About GeneDecksing
OMIM gene information: 614154
OMIM disorders: --
UniProtKB/Swiss-Prot: NOP56_HUMAN, O00567
Defects in NOP56 are the cause of spinocerebellar ataxia type 36 (SCA36) [MIM:614153]. A form ofspinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients showprogressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degenerationof the cerebellum with variable involvement of the brainstem and spinal cord. SCA36 is characterized by complicatedclinical features, with ataxia as the first symptom, followed by characteristic late-onset involvement of the motorneuron 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 bothupper and lower extremities. Note=Caused by large hexanucleotide CGCCTG repeat expansions within intron 1. Theseexpansions induce RNA foci and sequester the RNA-binding protein SRSF2. In addition, the transcription of MIR1292, amicroRNA gene located just 19 bp 3' of the GGCCTG repeat, is significantly decreased 4 diseases for NOP56: About MalaCardstreacher collins syndrome spinocerebellar ataxia ataxia malaria 1 disease from the University of Copenhagen DISEASES database for NOP56:Spinocerebellar ataxia 1 Novoseek disease relationship for NOP56 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| u4atac |
94.1 |
1 |
17412961 (1) |
Export disorders for NOP56 gene to outside databases
|
Publications for NOP56 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for NOP56 gene, integrated from 9 sources (see all 53): (articles sorted by number of sources associating them with NOP56) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neur on involvement. (PubMed id 21683323)1, 2, 3 Kobayashi H....Koizumi A. (2011)
- Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. (PubMed id 9372940)1, 2, 3 Gautier T.... Hurt E. (1997)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (PubMed id 12777385)1, 2 Hayano T....Takahashi N. (2003)
- Functional proteomic analysis of human nucleolus. (PubMed id 12429849)1, 2 Scherl A.... Diaz J.-J. (2002)
- The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
- Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs. (PubMed id 19331828)1, 9 Lechertier T....Roussel P. (2009)
- Evidence that the AAA+ proteins TIP48 and TIP49 bridg e interactions between 15.5K and the related NOP56 and NOP58 proteins during bo x C/D snoRNP biogenesis. (PubMed id 19620283)1, 9 McKeegan K.S....Watkins N.J. (2009)
- 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. (PubMed id 12417735)1, 9 Watkins N.J....Luhrmann R. (2002)
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Specialized Databases showing NOP56 gene(According to PharmGKB,
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| PharmGKB entry for NOP56 | Pharmacogenomics, SNPs, Pathways |
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Products for NOP56 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
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| | | | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NOP56 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NOP56 | | OriGene Protein Over-expression Lysate for NOP56 | | Browse OriGene Fluorogenic Cell Assay Kits | | Browse OriGene siRNAs | | OriGene 3'-UTR Clone for NOP56 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NOP56 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for NOP56 | | OriGene Custom Protein Services for NOP56 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NOP56 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NOP56 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NOP56 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NOP56 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NOP56 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NOP56 |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOP56 |
|  |  |  | | | ThermoFisher Antibodies for NOP56 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOP56 |
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