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NOP2 NOP2 nucleolar protein [ Homo sapiens (human) ]

Gene ID: 4839, updated on 11-Sep-2019

Summary

Official Symbol
NOP2provided by HGNC
Official Full Name
NOP2 nucleolar proteinprovided by HGNC
Primary source
HGNC:HGNC:7867
See related
Ensembl:ENSG00000111641 MIM:164031
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NOL1; p120; NSUN1; NOP120
Expression
Ubiquitous expression in lymph node (RPKM 12.9), bone marrow (RPKM 12.9) and 25 other tissues See more
Orthologs

Genomic context

See NOP2 in Genome Data Viewer
Location:
12p13.31
Exon count:
18
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (6556871..6568291, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (6666036..6677498, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glyceraldehyde-3-phosphate dehydrogenase Neighboring gene intermediate filament family orphan 1 Neighboring gene Sharpr-MPRA regulatory region 3501 Neighboring gene chromodomain helicase DNA binding protein 4 Neighboring gene small Cajal body-specific RNA 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117384, MGC149287, MGC149288

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA (cytosine-C5-)-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
rRNA base methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of signal transduction by p53 class mediator IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
ribosomal large subunit assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nucleolus HDA PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase
Names
NOL1/NOP2/Sun domain family, member 1
NOP2 nucleolar protein homolog
nucleolar protein 1, 120kDa
nucleolar protein 2 homolog
proliferating-cell nucleolar antigen p120
proliferation-associated nucleolar protein p120
putative ribosomal RNA methyltransferase NOP2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001033714.3NP_001028886.1  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_001028886.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    BC065257, DC316656
    Consensus CDS
    CCDS44811.1
    UniProtKB/Swiss-Prot
    P46087
    Related
    ENSP00000382392.2, ENST00000399466.6
    Conserved Domains (3) summary
    COG0144
    Location:253582
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    pfam01189
    Location:373581
    Nol1_Nop2_Fmu; 16S rRNA methyltransferase RsmF
    pfam17125
    Location:295369
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF
  2. NM_001258308.2NP_001245237.1  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 2

    See identical proteins and their annotated locations for NP_001245237.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    BC128183, CX868076
    Consensus CDS
    CCDS58203.1
    UniProtKB/Swiss-Prot
    P46087
    Related
    ENSP00000313272.5, ENST00000322166.9
    Conserved Domains (3) summary
    COG0144
    Location:257586
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    pfam01189
    Location:377585
    Nol1_Nop2_Fmu; 16S rRNA methyltransferase RsmF
    pfam17125
    Location:299373
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF
  3. NM_001258309.2NP_001245238.1  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 3

    See identical proteins and their annotated locations for NP_001245238.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon and uses an alternate splice site in the coding region, but maintians the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    BC106072, DC316656
    Consensus CDS
    CCDS58204.1
    UniProtKB/Swiss-Prot
    P46087
    Related
    ENSP00000371858.3, ENST00000382421.7
    Conserved Domains (1) summary
    COG0144
    Location:290619
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
  4. NM_001258310.2NP_001245239.1  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 4

    See identical proteins and their annotated locations for NP_001245239.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate internal exon in the 3' region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC082985, DC316656
    Consensus CDS
    CCDS58202.1
    UniProtKB/Swiss-Prot
    P46087
    Related
    ENSP00000439422.1, ENST00000545200.5
    Conserved Domains (3) summary
    TIGR00446
    Location:308582
    nop2p; NOL1/NOP2/sun family putative RNA methylase
    pfam01189
    Location:373581
    Nol1_Nop2_Fmu; 16S rRNA methyltransferase RsmF
    pfam17125
    Location:295369
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF
  5. NM_006170.4NP_006161.2  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_006161.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK056208
    Consensus CDS
    CCDS44811.1
    UniProtKB/Swiss-Prot
    P46087
    Related
    ENSP00000443150.1, ENST00000541778.5
    Conserved Domains (3) summary
    COG0144
    Location:253582
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    pfam01189
    Location:373581
    Nol1_Nop2_Fmu; 16S rRNA methyltransferase RsmF
    pfam17125
    Location:295369
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    6556871..6568291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005253691.2XP_005253748.1  probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase isoform X1

    See identical proteins and their annotated locations for XP_005253748.1

    UniProtKB/Swiss-Prot
    P46087
    Conserved Domains (3) summary
    COG0144
    Location:257586
    RsmB; 16S rRNA C967 or C1407 C5-methylase, RsmB/RsmF family [Translation, ribosomal structure and biogenesis]
    pfam01189
    Location:377585
    Nol1_Nop2_Fmu; 16S rRNA methyltransferase RsmF
    pfam17125
    Location:299373
    Methyltr_RsmF_N; N-terminal domain of 16S rRNA methyltransferase RsmF
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