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    DPY30 dpy-30 histone methyltransferase complex regulatory subunit [ Homo sapiens (human) ]

    Gene ID: 84661, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DPY30provided by HGNC
    Official Full Name
    dpy-30 histone methyltransferase complex regulatory subunitprovided by HGNC
    Primary source
    HGNC:HGNC:24590
    See related
    Ensembl:ENSG00000162961 MIM:612032; AllianceGenome:HGNC:24590
    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
    Cps25; Saf19; HDPY-30
    Summary
    This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 7.5), adrenal (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DPY30 in Genome Data Viewer
    Location:
    2p22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (32011649..32039835, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (32060057..32088234, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (32236718..32264904, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 2 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr2:32111667-32112574 Neighboring gene mediator of cell motility 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11332 Neighboring gene MPRA-validated peak3645 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32209277-32209778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32209779-32210278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:32225693-32226193 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11333 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11334 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:32236012-32236171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15557 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:32288537-32289337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11339 Neighboring gene spastin Neighboring gene SLC30A6 divergent transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation. Su WC, et al. Int J Med Sci, 2023. PMID 37324189, Free PMC Article
    2. Characterization and crystallization of human DPY-30-like protein, an essential component of dosage compensation complex. Dong X, et al. Biochim Biophys Acta, 2005 Dec 1. PMID 16260194
    3. DPY30 is required for the enhanced proliferation, motility and epithelial-mesenchymal transition of epithelial ovarian cancer cells. Zhang L, et al. Int J Mol Med, 2018 Dec. PMID 30221689, Free PMC Article
    4. Crystal structure of the C-terminal domain of human DPY-30-like protein: A component of the histone methyltransferase complex. Wang X, et al. J Mol Biol, 2009 Jul 17. PMID 19481096
    5. Roles of DPY30 in the Proliferation and Motility of Gastric Cancer Cells. Lee YJ, et al. PLoS One, 2015. PMID 26147337, Free PMC Article

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation.
      Title: DPY30 Promotes Proliferation and Cell Cycle Progression of Colorectal Cancer Cells via Mediating H3K4 Trimethylation.
    2. Glioblastoma stem cells reprogram chromatin in vivo to generate selective therapeutic dependencies on DPY30 and phosphodiesterases.
      Title: Glioblastoma stem cells reprogram chromatin in vivo to generate selective therapeutic dependencies on DPY30 and phosphodiesterases.
    3. Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.
      Title: Mechanism for DPY30 and ASH2L intrinsically disordered regions to modulate the MLL/SET1 activity on chromatin.
    4. A chromatin modulator sustains self-renewal and enables differentiation of postnatal neural stem and progenitor cells.
      Title: A chromatin modulator sustains self-renewal and enables differentiation of postnatal neural stem and progenitor cells.
    5. In this study identify an epistatic interaction between SPAST and DPY30 that influences age at onset in spastin-hereditary spastic paraplegia.
      Title: Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.
    6. These results reveal a critical role of DPY30 in glucose homeostasis.
      Title: DPY30 functions in glucose homeostasis via integrating activated histone epigenetic modifications.
    7. The results indicated that DPY30 may act as an oncogene in EOC and thus represents a potential therapeutic target and prognostic marker in EOC.
      Title: DPY30 is required for the enhanced proliferation, motility and epithelial-mesenchymal transition of epithelial ovarian cancer cells.
    8. The PKA-binding domain of AKAP8 and the C-terminal domain of DPY30, also called Dpy-30 motif, are crucial for the interaction between these proteins. A single amino acid substitution in DPY30 L69D affects its dimerization and completely abolishes its interaction with AKAP8 and BIG1.
      Title: PKA-binding domain of AKAP8 is essential for direct interaction with DPY30 protein.
    9. Dpy30 role in cellular reprogramming and its interactions with Set1 complex
      Title: Physical Interactions and Functional Coordination between the Core Subunits of Set1/Mll Complexes and the Reprogramming Factors.
    10. results indicate that DPY30 has critical roles in the proliferation, migration, and invasion of gastric cancer cells, and suggest DPY30 might be a therapeutic target in gastric cancer
      Title: Roles of DPY30 in the Proliferation and Motility of Gastric Cancer Cells.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endosomal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transcription initiation-coupled chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    part_of MLL1 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of MLL1/2 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of MLL3/4 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of MLL3/4 complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of Set1C/COMPASS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of Set1C/COMPASS complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of histone methyltransferase complex 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
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein dpy-30 homolog
    Names
    dpy-30 homolog
    dpy-30-like protein
    dpy-30L

    NCBI Reference Sequences (RefSeq)

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    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_001321209.2 → NP_001308138.1  protein dpy-30 homolog isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC015970, BM505380, BQ276899
      Consensus CDS
      CCDS1777.1
      UniProtKB/Swiss-Prot
      D6W578, Q9C005
      Related
      ENSP00000345837.5, ENST00000342166.10
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 93
      Dpy-30; Dpy-30 motif

    2. NM_001321210.2 → NP_001308139.1  protein dpy-30 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL121655, BG187724, BG940527, BQ276899
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 76
      Dpy-30; Dpy-30 motif

    3. NM_032574.4 → NP_115963.1  protein dpy-30 homolog isoform 1

      See identical proteins and their annotated locations for NP_115963.1

      Status: VALIDATED

      Source sequence(s)
      AF226998, BM505380, BQ276899
      Consensus CDS
      CCDS1777.1
      UniProtKB/Swiss-Prot
      D6W578, Q9C005
      Related
      ENSP00000295066.3, ENST00000295066.3
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 93
      Dpy-30; Dpy-30 motif

    RNA

    1. NR_135585.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AV725116, BM505380, BQ276899

    2. NR_135587.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA442557, AL121655, BC015970, BM505380, BQ276899

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      32011649..32039835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446037.1 → XP_047301993.1  protein dpy-30 homolog isoform X1

      UniProtKB/TrEMBL
      B4DIS3

    2. XM_047446038.1 → XP_047301994.1  protein dpy-30 homolog isoform X1

      UniProtKB/TrEMBL
      B4DIS3

    3. XM_017005111.2 → XP_016860600.1  protein dpy-30 homolog isoform X1

      UniProtKB/TrEMBL
      B4DIS3
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 76
      Dpy-30; Dpy-30 motif

    4. XM_011533133.3 → XP_011531435.1  protein dpy-30 homolog isoform X1

      See identical proteins and their annotated locations for XP_011531435.1

      UniProtKB/TrEMBL
      B4DIS3
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 76
      Dpy-30; Dpy-30 motif

    5. XM_006712118.4 → XP_006712181.1  protein dpy-30 homolog isoform X1

      See identical proteins and their annotated locations for XP_006712181.1

      UniProtKB/TrEMBL
      B4DIS3
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 76
      Dpy-30; Dpy-30 motif

    6. XM_006712117.5 → XP_006712180.1  protein dpy-30 homolog isoform X2

      See identical proteins and their annotated locations for XP_006712180.1

      UniProtKB/TrEMBL
      B4DIS3
      Conserved Domains (1) summary
      pfam05186
      Location:52 → 76
      Dpy-30; Dpy-30 motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      32060057..32088234 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344215.1 → XP_054200190.1  protein dpy-30 homolog isoform X1

      UniProtKB/TrEMBL
      B4DIS3

    2. XM_054344216.1 → XP_054200191.1  protein dpy-30 homolog isoform X1

      UniProtKB/TrEMBL
      B4DIS3

    RNA

    1. XR_008486560.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9C005.1 GenPept UniProtKB/Swiss-Prot:Q9C005

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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