Human Gene NOP2 (ENST00000322166.10_14) from GENCODE V47lift37
  Description: NOP2 nucleolar protein, transcript variant 3 (from RefSeq NM_001258308.2)
Gencode Transcript: ENST00000322166.10_14
Gencode Gene: ENSG00000111641.13_20
Transcript (Including UTRs)
   Position: hg19 chr12:6,666,037-6,677,457 Size: 11,421 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr12:6,666,159-6,677,084 Size: 10,926 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:6,666,037-6,677,457)mRNA (may differ from genome)Protein (812 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NOP2_HUMAN
DESCRIPTION: RecName: Full=Putative ribosomal RNA methyltransferase NOP2; EC=2.1.1.-; AltName: Full=Nucleolar protein 1; AltName: Full=Nucleolar protein 2 homolog; AltName: Full=Proliferating-cell nucleolar antigen p120; AltName: Full=Proliferation-associated nucleolar protein p120;
FUNCTION: May play a role in the regulation of the cell cycle and the increased nucleolar activity that is associated with the cell proliferation. May act as ribosomal RNA methyltransferase.
SUBUNIT: Interaction with MCRS1.
SUBCELLULAR LOCATION: Nucleus, nucleolus.
DEVELOPMENTAL STAGE: Expressed in G1 and peaks during the early S phase of the cell cycle.
SIMILARITY: Belongs to the methyltransferase superfamily. RsmB/NOP family.
SEQUENCE CAUTION: Sequence=AAA36398.1; Type=Frameshift; Positions=780; Sequence=CAA39119.1; Type=Frameshift; Positions=780;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NOP2
Diseases sorted by gene-association score: kabuki syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.78 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 506.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.8089-0.324 Picture PostScript Text
3' UTR -24.60122-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001678 - Fmu/NOL1/Nop2p
IPR018314 - Fmu/NOL1/Nop2p_CS
IPR011023 - Nop2p
IPR012586 - P120R
IPR023267 - RCMT
IPR023273 - RCMT_NOP2

Pfam Domains:
PF01189 - 16S rRNA methyltransferase RsmB/F
PF08062 - P120R (NUC006) repeat
PF17125 - N-terminal domain of 16S rRNA methyltransferase RsmF

SCOP Domains:
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on P46087
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGD   SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008168 methyltransferase activity
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity
GO:0009383 rRNA (cytosine-C5-)-methyltransferase activity
GO:0016740 transferase activity

Biological Process:
GO:0000027 ribosomal large subunit assembly
GO:0000470 maturation of LSU-rRNA
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006364 rRNA processing
GO:0008284 positive regulation of cell proliferation
GO:0032259 methylation
GO:0042254 ribosome biogenesis
GO:0070475 rRNA base methylation
GO:1901796 regulation of signal transduction by p53 class mediator

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  X55504 - H.sapiens mRNA for P120 antigen.
M32110 - Human proliferating-cell nucleolar protein P120 mRNA, complete cds.
BC000656 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:3093 IMAGE:3349415), complete cds.
BC065257 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:75077 IMAGE:6146884), complete cds.
AK129852 - Homo sapiens cDNA FLJ26342 fis, clone HRT03289, highly similar to Proliferating-cell nucleolar antigen P120.
BC106072 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:117384 IMAGE:6169852), complete cds.
BC082985 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:99650 IMAGE:6672391), complete cds.
AK056208 - Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.
AK307582 - Homo sapiens cDNA, FLJ97530.
BC128183 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:149287 IMAGE:40113364), complete cds.
BC128184 - Homo sapiens NOP2 nucleolar protein homolog (yeast), mRNA (cDNA clone MGC:149288 IMAGE:40113367), complete cds.
KJ905839 - Synthetic construct Homo sapiens clone ccsbBroadEn_15509 NOP2 gene, encodes complete protein.
KJ901605 - Synthetic construct Homo sapiens clone ccsbBroadEn_10999 NOP2 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P46087 (Reactome details) participates in the following event(s):

R-HSA-6790944 NOP2 (NSUN1) methylates cytidine-4447 of 28S rRNA yielding 5-methylcytidine-4447
R-HSA-8869496 TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
R-HSA-8864260 Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
R-HSA-6790901 rRNA modification in the nucleus and cytosol
R-HSA-212436 Generic Transcription Pathway
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-72312 rRNA processing
R-HSA-74160 Gene expression (Transcription)
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: A1A4Z3, B3KPD6, ENST00000322166.1, ENST00000322166.2, ENST00000322166.3, ENST00000322166.4, ENST00000322166.5, ENST00000322166.6, ENST00000322166.7, ENST00000322166.8, ENST00000322166.9, NM_001258308, NOL1, NOP2_HUMAN, NSUN1, P46087, Q05BA7, Q0P5S5, Q3KQS4, Q58F30, uc317rfl.1, uc317rfl.2
UCSC ID: ENST00000322166.10_14
RefSeq Accession: NM_001258308.2
Protein: P46087 (aka NOP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.