Aliases for NOP56 Gene
Aliases for NOP56 Gene
External Ids for NOP56 Gene
- HGNC: 15911
- Entrez Gene: 10528
- Ensembl: ENSG00000101361
- OMIM: 614154
- UniProtKB: O00567
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
- GC20P002778
- GC20P002738
- GC20P002765
- GC20P002835
- GC20P002838
- GC20P002853
Summaries 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. 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]
GeneCards Summary for NOP56 Gene
NOP56 (NOP56 Ribonucleoprotein) is a Protein Coding gene. Diseases associated with NOP56 include Spinocerebellar Ataxia 36 and Oromandibular Dystonia. Among its related pathways are rRNA processing in the nucleus and cytosol and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include 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.
Additional gene information for NOP56 Gene
- Monarch Initiative
- Search for NOP56 at DataMed
- Search for NOP56 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOP56 Gene
Genomics for NOP56 Gene
GeneHancer (GH) Regulatory Elements for NOP56 Gene
Promoters and enhancers for NOP56 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around NOP56 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the NOP56 gene promoter:
-
- AREB6
- S8
- HEN1
- ZID
- Pax-6
- MZF-1
- IRF-2
- COMP1
- GATA-1
Regulatory Element Products
Genomic Locations for NOP56 Gene
Genomic Locations for NOP56 Gene
- chr20:2,652,145-2,658,393
- (GRCh38/hg38)
- Size:
- 6,249 bases
- Orientation:
- Plus strand
- chr20:2,632,791-2,639,039
- (GRCh37/hg19)
- 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:
-
- 20p13 by Entrez Gene
- 20p13 by HGNC
- 20p13 by Ensembl
NOP56 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for NOP56 Gene
Post-translational modifications for NOP56 Gene
Other Protein References for NOP56 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for NOP56
-
Abcam antibodies for NOP56
- Invitrogen Antibodies for NOP56 (AFLGC-NOP56)
- GeneTex NOP56 Antibody for NOP56
-
Boster Bio Antibodies for NOP56
Protein Products
-
OriGene Purified Proteins for NOP56
- Search Origene for MassSpec and Protein Over-expression Lysates for NOP56
- Origene Custom Protein Services for NOP56
- antibodies-online: Search results for 4 available NOP56 Proteins ranked by validation data
- Compare Top NOP56 Proteins
-
Quality Products:
- Search GeneTex for Proteins for NOP56
-
Abcam proteins for NOP56
Assay Products
No data available for DME Specific Peptides for NOP56 Gene
Domains & Families for NOP56 Gene
Gene Families for NOP56 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for NOP56 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NOP56 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00567- Family:
-
- Belongs to the NOP5/NOP56 family.
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.
Phenotypes From GWAS Catalog for NOP56 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | TAS,HDA | 22658674 |
| GO:0005515 | protein binding | IPI | 17314511 |
| GO:0030515 | snoRNA binding | IDA | 17636026 |
| GO:0045296 | cadherin binding | IDA | 25468996 |
| GO:1990226 | histone methyltransferase binding | IPI | 17636026 |
Phenotypes for NOP56 Gene
- GenomeRNAi human phenotypes for NOP56:
-
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased lymphocytic choriomeningitis virus (LCMV) infection
- Decreased human parainfluenza virus type 3 (HPIV3) infection
- Decreased viability
- no effect
- Synthetic lethal with Ras
- Nucleoplasmic pre-40S maturation defects
- Nuclear 40S maturation defects
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after viral supernatant infection
- Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection
- Decreased IL-8 secretion
- Increased viability
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NOP56
-
CRISPR Products
-
OriGene CRISPR knockouts for NOP56
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOP56
- genomics-online: gRNA clones - Search results for 100 available NOP56 gene related products
- Overview of 100 available NOP56 gene related products
- Applied Biological Materials CRISPR for NOP56
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOP56
- GenScript: Design CRISPR guide RNA sequences for NOP56
miRNA for NOP56 Gene
- miRTarBase miRNAs that target NOP56
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOP56
- Browse OriGene Inhibitory RNA Products For NOP56
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOP56
- genomics-online: shRNA clones - Search results for 100 available NOP56 gene related products
- Overview of 100 available NOP56 gene related products
Clone Products
- Sino Biological Human cDNA Clone for NOP56
- Addgene plasmids for NOP56
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOP56
- Applied Biological Materials Clones for NOP56
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nucleoli fibrillar center (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | TAS | 9372940 |
| GO:0005732 | small nucleolar ribonucleoprotein complex | IDA | 17636026 |
Pathways & Interactions for NOP56 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | rRNA processing in the nucleus and cytosol |
.89
|
|
| 2 | Chaperonin-mediated protein folding |
.94
|
|
| 3 | Ribosome biogenesis in eukaryotes | ||
| 4 | Gene Expression |
.48
|
|
| 5 | Metabolism of proteins | ||
Pathways by source for NOP56 Gene
1 KEGG pathway for NOP56 Gene
Interacting Proteins for NOP56 Gene
Selected Interacting proteins:
ENSP00000370589
O00567-NOP56_HUMAN
for NOP56 Gene via
STRING
MINT
IID
GPS-Prot Interaction Network for NOP56
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000154 | rRNA modification | IBA | -- |
| GO:0006364 | rRNA processing | TAS | -- |
| GO:0042254 | ribosome biogenesis | IEA | -- |
No data available for SIGNOR curated interactions for NOP56 Gene
Transcripts for NOP56 Gene
mRNA/cDNA for NOP56 Gene
- (1) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (897) Selected AceView cDNA sequences:
- (20) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000329276 2400 bps (uc002wgh.4)
- ENST00000494697 919 bps (uc061vap.1)
- ENST00000470143 663 bps (uc061vaq.1)
- ENST00000469588 950 bps (uc061var.1)
- ENST00000445139 856 bps (uc061vas.1)
Unigene Clusters for NOP56 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NOP56
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NOP56
- genomics-online: gRNA clones - Search results for 100 available NOP56 gene related products
- Overview of 100 available NOP56 gene related products
- Applied Biological Materials CRISPR for NOP56
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOP56
- GenScript: Design CRISPR guide RNA sequences for NOP56
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NOP56
- Browse OriGene Inhibitory RNA Products For NOP56
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOP56
- genomics-online: shRNA clones - Search results for 100 available NOP56 gene related products
- Overview of 100 available NOP56 gene related products
Clone Products
- Sino Biological Human cDNA Clone for NOP56
- Addgene plasmids for NOP56
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NOP56
- Applied Biological Materials Clones for NOP56
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| 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: |
Expression for NOP56 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Bone (Muscoskeletal System)
- Ovary (Reproductive System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
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, MaxQB, and MOPED for NOP56 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of NOP56 Gene:
NOP56SOURCE GeneReport for Unigene cluster for NOP56 Gene:
Hs.376064Evidence on tissue expression from TISSUES for NOP56 Gene
- Nervous system(5)
- Liver(4.6)
- Kidney(4.5)
- Lung(4.3)
- Intestine(3.8)
- Skin(3.8)
- Eye(2.4)
- Spleen(2.2)
- Stomach(2.2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NOP56 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- head
- mouth
- tongue
Limb:
- foot
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for NOP56
-
OriGene qPCR primer pairs and template standards for NOP56
- genomics-online: primer clones - Search results for 100 available NOP56 gene related products
- Overview of 100 available NOP56 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NOP56 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NOP56 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NOP56 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Nop56 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Nop56 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NOP56 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NOP56 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NOP56 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NOP56 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | nop56 33 |
|
||
| Str.8159 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | XNop56 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | nop56 34 33 |
|
OneToOne | |
| nol5a 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9727 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002063 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Nop56 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | K07C5.4 34 33 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ACL144C 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D12254g 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NOP56 36 34 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | NOP56 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.2258 33 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3462 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0352300 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.9201 33 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.7010 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU06943 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC646.10c 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | Cin.3107 33 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3107 33 |
|
- Species where no ortholog for NOP56 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for NOP56: view image
Paralogs for NOP56 Gene
(2) SIMAP similar genes for NOP56 Gene using alignment to 6 proteins:
- NOP56_HUMAN
- A0PJ92_HUMAN
- H0Y653_HUMAN
- H0YDU4_HUMAN
- Q5JXT2_HUMAN
- Q9BSN3_HUMAN
Pseudogenes.org Pseudogenes for NOP56 Gene
No data available for Paralogs for NOP56 Gene
Variants for NOP56 Gene
| SNP ID | Clin | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs140155681 | uncertain-significance, Retinitis Pigmentosa, Recessive | 2,658,498(+) | A/G | downstream_transcript_variant | |
| rs145651330 | uncertain-significance, Retinitis Pigmentosa, Recessive | 2,658,827(+) | C/T | downstream_transcript_variant | |
| rs376112899 | uncertain-significance, Retinitis Pigmentosa, Recessive | 2,658,777(+) | C/T | downstream_transcript_variant | |
| rs546467756 | uncertain-significance, Retinitis Pigmentosa, Recessive | 2,658,548(+) | A/G | downstream_transcript_variant | |
| rs781157150 | uncertain-significance, Retinitis Pigmentosa, Recessive | 2,658,789(+) | TGATGA/TGA | downstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3402776 | CNV | insertion | 20981092 |
| esv3644998 | CNV | gain | 21293372 |
| nsv1057464 | CNV | gain | 25217958 |
| nsv458852 | CNV | loss | 19166990 |
| nsv470535 | CNV | gain | 18288195 |
| nsv585266 | CNV | loss | 21841781 |
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)
Additional Variant Information for NOP56 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOP56 Gene
Disorders for NOP56 Gene
(6) MalaCards diseases for NOP56 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 36 |
|
|
| oromandibular dystonia |
|
|
| cerebellar disease |
|
|
| aceruloplasminemia |
|
|
| retinitis pigmentosa |
|
|
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.
Additional Disease Information for NOP56
No data available for Genatlas for NOP56 Gene
Publications for NOP56 Gene
- 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 (American journal of human genetics 2011) 2 3 4 58
- 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 KS … Watkins NJ (Molecular and cellular biology 2009) 3 4 22 58
- 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 NJ … Lührmann R (Molecular and cellular biology 2002) 3 4 22 58
- Nucleolar KKE/D repeat proteins Nop56p and Nop58p interact with Nop1p and are required for ribosome biogenesis. (PMID: 9372940) Gautier T … Hurt E (Molecular and cellular biology 1997) 2 3 4 58
- Fibrillarin and Nop56 interact before being co-assembled in box C/D snoRNPs. (PMID: 19331828) Lechertier T … Roussel P (Experimental cell research 2009) 3 22 58
Products for NOP56 Gene
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- Quality Products:
- GeneTex NOP56 Antibody for NOP56
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- genomics-online: cdna clones - Search results for 100 available NOP56 gene related products
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Sources for NOP56 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
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- (119) Disease Ontology
- (120) Genetics Home Reference
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- (122) MedlinePlus
- (123) CDC
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- (125) NCBI Bookshelf
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- (133) ENCODE
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- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt