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

    Gene ID: 10419, updated on 3-Dec-2024

    Summary

    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; AllianceGenome:HGNC:10894
    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
    HSL7; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.2), ovary (RPKM 18.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PRMT5 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22920529..22929376, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17118607..17127453, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23389738..23398585, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352144-23352682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352683-23353220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8149 Neighboring gene RRAD and GEM like GTPase 2 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23368929-23369666 Neighboring gene RNA binding motif protein 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23386410-23387174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5595 Neighboring gene PRMT5 antisense RNA 1 Neighboring gene uncharacterized LOC124903285 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:23395171-23396370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5596 Neighboring gene tRNA-Arg (anticodon ACG) 1-3 Neighboring gene PRMT5 divergent transcript Neighboring gene HAUS augmin like complex subunit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8155 Neighboring gene microRNA 4707

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables E-box binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone H2AQ104 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3 methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables histone H3K37 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K56 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3R17 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3R2 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3R26 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3R8 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4K12 methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4R3 methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone H4R3 methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables histone H4R3 methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone arginine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables histone methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables methyl-CpG binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-arginine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-arginine omega-N symmetric methyltransferase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein-arginine omega-N symmetric methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-arginine omega-N symmetric methyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ribonucleoprotein complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in DNA-templated transcription termination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in Golgi ribbon formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in circadian regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endothelial cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in liver regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression via chromosomal CpG island methylation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within peptidyl-arginine N-methylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-arginine methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of adenylate cyclase-inhibiting dopamine receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of mRNA splicing, via spliceosome NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mitotic nuclear division TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    involved_in spliceosomal snRNP assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spliceosomal snRNP assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of histone methyltransferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of methylosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    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_047286837.1
    XP_054231245.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001039619.3NP_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)
      AK027737, AK075251
      Consensus CDS
      CCDS41922.1
      UniProtKB/TrEMBL
      B2RDD7
      Related
      ENSP00000380583.2, ENST00000397441.6
      Conserved Domains (3) summary
      pfam05185
      Location:278447
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam17285
      Location:20273
      PRMT5_TIM; PRMT5 TIM barrel domain
      pfam17286
      Location:451618
      PRMT5_C; PRMT5 oligomerization domain
    2. NM_001282953.2NP_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
      Consensus CDS
      CCDS61394.1
      UniProtKB/TrEMBL
      B2RDD7
      Related
      ENSP00000216350.8, ENST00000216350.12
      Conserved Domains (1) summary
      pfam05185
      Location:122558
      PRMT5; PRMT5 arginine-N-methyltransferase
    3. NM_001282954.2NP_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)
      AK300863, AL833612, DC395183
      UniProtKB/TrEMBL
      B2RDD7, B4DV00
      Conserved Domains (3) summary
      pfam05185
      Location:189358
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam17285
      Location:1184
      PRMT5_TIM; PRMT5 TIM barrel domain
      pfam17286
      Location:362529
      PRMT5_C; PRMT5 oligomerization domain
    4. NM_001282955.2NP_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)
      AK302240, AL833612, DC395183
      Consensus CDS
      CCDS61396.1
      UniProtKB/TrEMBL
      B2RDD7
      Related
      ENSP00000452555.1, ENST00000553897.5
      Conserved Domains (3) summary
      pfam05185
      Location:251420
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam17285
      Location:37246
      PRMT5_TIM; PRMT5 TIM barrel domain
      pfam17286
      Location:424591
      PRMT5_C; PRMT5 oligomerization domain
    5. NM_001282956.2NP_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)
      AL833612, BC005820, DC395183
      Consensus CDS
      CCDS61395.1
      UniProtKB/Swiss-Prot
      O14744
      Related
      ENSP00000380582.4, ENST00000397440.8
      Conserved Domains (1) summary
      pfam05185
      Location:95448
      PRMT5; PRMT5 arginine-N-methyltransferase
    6. NM_006109.5NP_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)
      AL833612, DC395183
      Consensus CDS
      CCDS9579.1
      UniProtKB/Swiss-Prot
      A8MTP3, A8MZ91, B4DX49, B4DY30, B5BU10, D3DS33, E2QRE7, O14744, Q6IBR1, Q9UKH1
      UniProtKB/TrEMBL
      B2RDD7
      Related
      ENSP00000319169.8, ENST00000324366.13
      Conserved Domains (3) summary
      pfam05185
      Location:295464
      PRMT5; PRMT5 arginine-N-methyltransferase
      pfam17285
      Location:37290
      PRMT5_TIM; PRMT5 TIM barrel domain
      pfam17286
      Location:468635
      PRMT5_C; PRMT5 oligomerization domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22920529..22929376 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430881.1XP_047286837.1  protein arginine N-methyltransferase 5 isoform X1

      UniProtKB/TrEMBL
      B2RDD7, B4DV00

    RNA

    1. XR_429287.3 RNA Sequence

    2. XR_001750113.3 RNA Sequence

      Related
      ENST00000553915.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17118607..17127453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375270.1XP_054231245.1  protein arginine N-methyltransferase 5 isoform X1

      UniProtKB/TrEMBL
      B2RDD7, B4DV00

    RNA

    1. XR_008488813.1 RNA Sequence

    2. XR_008488814.1 RNA Sequence