Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PRMT5 protein arginine methyltransferase 5 [ Homo sapiens (human) ]

    Gene ID: 10419, updated on 19-Nov-2017
    Official Symbol
    PRMT5provided by HGNC
    Official Full Name
    protein arginine methyltransferase 5provided by HGNC
    Primary source
    HGNC:HGNC:10894
    See related
    Ensembl:ENSG00000100462 MIM:604045; Vega:OTTHUMG00000028709
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JBP1; SKB1; IBP72; SKB1Hs; HRMT1L5
    Summary
    This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
    Orthologs
    Location:
    14q11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (22920511..22929585, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23389733..23398789, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RRAD and GEM like GTPase 2 Neighboring gene RNA binding motif protein 23 Neighboring gene PRMT5 antisense RNA 1 Neighboring gene uncharacterized LOC101926933 Neighboring gene transfer RNA-Arg (ACG) 1-3 Neighboring gene HAUS augmin like complex subunit 4 Neighboring gene microRNA 4707

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • Circadian rythm related genes, organism-specific biosystem (from WikiPathways)
      Circadian rythm related genes, organism-specific biosystemThis is currently not a pathway but a list of circadian rhythm related genes and proteins. The source for this information is the gene ontology. The genes and proteins were filtered for "circadian rh...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
      Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
    • RMTs methylate histone arginines, organism-specific biosystem (from REACTOME)
      RMTs methylate histone arginines, organism-specific biosystemArginine methylation is a common post-translational modification; around 2% of arginine residues are methylated in rat liver nuclei (Boffa et al. 1977). Arginine can be methylated in 3 different ways...
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Activity through Methylation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity through Methylation, organism-specific biosystemTP53 (p53) undergoes methylation on several lysine and arginine residues, which modulates its transcriptional activity.PRMT5, recruited to TP53 as part of the ATM-activated complex that includes TTC5...
    • Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by HDAC Class I, organism-specific biosystem
      Signaling events mediated by HDAC Class I
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway
    • snRNP Assembly, organism-specific biosystem (from REACTOME)
      snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    core promoter sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone methyltransferase activity (H4-R3 specific) IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone-arginine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    methyl-CpG binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-arginine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-arginine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    protein-arginine omega-N symmetric methyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    protein-arginine omega-N symmetric methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ribonucleoprotein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    DNA-templated transcription, termination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Golgi ribbon formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    histone H4-R3 methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone H4-R3 methylation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of nucleic acid-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-arginine N-methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-arginine methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-arginine methylation, to symmetrical-dimethyl arginine IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of DNA methylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of mitotic nuclear division TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    spliceosomal snRNP assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    spliceosomal snRNP assembly TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    methylosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    protein arginine N-methyltransferase 5
    Names
    72 kDa ICln-binding protein
    HMT1 hnRNP methyltransferase-like 5
    SKB1 homolog
    histone-arginine N-methyltransferase PRMT5
    jak-binding protein 1
    shk1 kinase-binding protein 1 homolog
    NP_001034708.1
    NP_001269882.1
    NP_001269883.1
    NP_001269884.1
    NP_001269885.1
    NP_006100.2
    XP_016876416.1

    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_001039619.2NP_001034708.1  protein arginine N-methyltransferase 5 isoform b

      See identical proteins and their annotated locations for NP_001034708.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA496357, AK027737, AK075251, DC395183
      Consensus CDS
      CCDS41922.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000380583.2, OTTHUMP00000246076, ENST00000397441.6, OTTHUMT00000413505
      Conserved Domains (2) summary
      pfam05185
      Location:166602
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam16950
      Location:167448
      SAMBD; SAM-binding_domain
    2. NM_001282953.1NP_001269882.1  protein arginine N-methyltransferase 5 isoform c

      See identical proteins and their annotated locations for NP_001269882.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the 5' coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA496357, AK301812, DC395183
      Consensus CDS
      CCDS61394.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000216350.8, OTTHUMP00000246077, ENST00000216350.12, OTTHUMT00000413506
      Conserved Domains (1) summary
      pfam05185
      Location:122558
      PRMT5; PRMT5 arginine-N-methyltransferase
    3. NM_001282954.1NP_001269883.1  protein arginine N-methyltransferase 5 isoform d

      See identical proteins and their annotated locations for NP_001269883.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains multiple differences in the 5' coding region, compared to variant 1, including initiation of translation at a downstream in-frame start codon. The encoded isoform (d) has a shorter N-terminus than isoform a.
      Source sequence(s)
      AA496357, AK300863, AL833612, DC395183
      UniProtKB/TrEMBL
      B4DV00
      Conserved Domains (1) summary
      pfam05185
      Location:77513
      PRMT5; PRMT5 arginine-N-methyltransferase
    4. NM_001282955.1NP_001269884.1  protein arginine N-methyltransferase 5 isoform e

      See identical proteins and their annotated locations for NP_001269884.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an exon and uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AA496357, AK302240, AL833612, DC395183
      Consensus CDS
      CCDS61396.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000452555.1, OTTHUMP00000246079, ENST00000553897.5, OTTHUMT00000413508
      Conserved Domains (1) summary
      pfam05185
      Location:139575
      PRMT5; PRMT5 arginine-N-methyltransferase
    5. NM_001282956.1NP_001269885.1  protein arginine N-methyltransferase 5 isoform f

      See identical proteins and their annotated locations for NP_001269885.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains multiple differences in the 5' coding region, compared to variant 1, including initiation of translation at an alternate start codon. The encoded isoform (f) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AA496357, AL833612, BC005820, DC395183
      Consensus CDS
      CCDS61395.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000380582.4, OTTHUMP00000164558, ENST00000397440.8, OTTHUMT00000071676
      Conserved Domains (1) summary
      pfam05185
      Location:95448
      PRMT5; PRMT5 arginine-N-methyltransferase
    6. NM_006109.4NP_006100.2  protein arginine N-methyltransferase 5 isoform a

      See identical proteins and their annotated locations for NP_006100.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AA496357, AL833612, DC395183
      Consensus CDS
      CCDS9579.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000319169.8, OTTHUMP00000027922, ENST00000324366.12, OTTHUMT00000071674
      Conserved Domains (2) summary
      pfam05185
      Location:183619
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam16950
      Location:184465
      SAMBD; SAM-binding_domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      22920511..22929585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020927.1XP_016876416.1  protein arginine N-methyltransferase 5 isoform X1

      UniProtKB/TrEMBL
      B4DV00
      Conserved Domains (1) summary
      pfam05185
      Location:77513
      PRMT5; PRMT5 arginine-N-methyltransferase

    RNA

    1. XR_001750114.1 RNA Sequence

      Related
      ENST00000553915.5, OTTHUMT00000413507
    2. XR_001750113.1 RNA Sequence

    3. XR_429287.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      23388338..23397410 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center