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] See more...

Aliases for DPY30 Gene

Aliases for DPY30 Gene

  • Dpy-30 Histone Methyltransferase Complex Regulatory Subunit 2 3 5
  • Protein Dpy-30 Homolog 3 4
  • Dpy-30-Like Protein 3 4
  • HDPY-30 2 3
  • Dpy-30L 3 4
  • Cps25 2 3
  • Saf19 2 3
  • Dpy-30 Homolog (C. Elegans) 2
  • Dpy-30 Homolog 3
  • DPY30 5

External Ids for DPY30 Gene

Previous GeneCards Identifiers for DPY30 Gene

  • GC02M032103
  • GC02M031993
  • GC02M032093

Summaries for DPY30 Gene

Entrez Gene Summary for DPY30 Gene

  • 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]

GeneCards Summary for DPY30 Gene

DPY30 (Dpy-30 Histone Methyltransferase Complex Regulatory Subunit) is a Protein Coding gene. Diseases associated with DPY30 include Arthrogryposis, Distal, Type 5 and Hereditary Spastic Paraplegia. Among its related pathways are Chromatin organization and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and identical protein binding.

UniProtKB/Swiss-Prot Summary for DPY30 Gene

  • As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DPY30 Gene

Genomics for DPY30 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DPY30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J032038 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.2 178 2.5 BCLAF1 ZNF207 NCOR1 MYC ZNF600 ZNF592 KLF9 POLR2A CEBPA BRCA1 DPY30 lnc-SPAST-3 lnc-MEMO1-1 SLC30A6 BIRC6 DDX50P1 TTC27 ENSG00000273165 LTBP1 NLRC4
GH02J032008 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +29.7 29748 4.6 BCLAF1 SP1 ZNF207 ZNF600 NCOR1 MYC SSRP1 ZNF580 ZNF592 ZMYM3 MEMO1 piR-44603-001 BIRC6 SLC30A6 DDX50P1 TTC27 ENSG00000273165 DPY30 lnc-MEMO1-2 lnc-MEMO1-1
GH02J031987 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.5 +52.1 52139 1.8 JUND ATF2 CEBPA CHD4 CEBPB HOMEZ EP300 THAP11 SMAD4 FOXP1 SLC30A6 MEMO1 DPY30 piR-61945-272 piR-44603-001 lnc-MEMO1-1 SRD5A2
GH02J031956 Promoter/Enhancer 1 Ensembl ENCODE dbSUPER 10.6 +82.0 82022 2.7 BHLHE40 IKZF1 RAD51 RUNX3 ARNT MEMO1 DPY30 SLC30A6 HSALNG0014051 HE856187 lnc-MEMO1-1 SRD5A2
GH02J031891 Promoter/Enhancer 0.8 EPDnew Ensembl 11.1 +147.0 147039 4.8 FEZF1 PRDM6 SPI1 ZNF18 CEBPB EZH2 CEBPG MEMO1 DPY30 SLC30A6 ENSG00000273165 HE856187 lnc-MEMO1-1 SRD5A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DPY30 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DPY30

Top Transcription factor binding sites by QIAGEN in the DPY30 gene promoter:
  • Cdc5
  • E2F
  • E2F-1
  • FOXO1
  • FOXO1a
  • GATA-1
  • NCX
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for DPY30 Gene

Latest Assembly
chr2:31,867,809-32,039,840
(GRCh38/hg38)
Size:
172,032 bases
Orientation:
Minus strand

Previous Assembly
chr2:32,236,718-32,264,904
(GRCh37/hg19 by Entrez Gene)
Size:
28,187 bases
Orientation:
Minus strand

chr2:32,092,878-32,264,881
(GRCh37/hg19 by Ensembl)
Size:
172,004 bases
Orientation:
Minus strand

Genomic View for DPY30 Gene

Genes around DPY30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DPY30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DPY30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DPY30 Gene

Proteins for DPY30 Gene

  • Protein details for DPY30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C005-DPY30_HUMAN
    Recommended name:
    Protein dpy-30 homolog
    Protein Accession:
    Q9C005
    Secondary Accessions:
    • D6W578

    Protein attributes for DPY30 Gene

    Size:
    99 amino acids
    Molecular mass:
    11250 Da
    Quaternary structure:
    • Homodimer. Core component of several methyltransferase-containing complexes including MLL1/MLL, MLL2/3 (also named ASCOM complex) and MLL4/WBP7. Each complex is at least composed of ASH2L, RBBP5, WDR5, DPY30, one or more specific histone methyltransferases (KMT2A/MLL1, KMT2D/MLL2, KMT2C/MLL3 and KMT2B/MLL4), and the facultative components MEN1, HCFC1, HCFC2, NCOA6, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin (By similarity). Interacts with ASH2L; the interaction is direct. Interacts with ARFGEF1. Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30.

    Three dimensional structures from OCA and Proteopedia for DPY30 Gene

neXtProt entry for DPY30 Gene

Post-translational modifications for DPY30 Gene

  • Ubiquitination at Lys35 and Lys45
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DPY30 Gene

Domains & Families for DPY30 Gene

Gene Families for DPY30 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DPY30 Gene

InterPro:
Blocks:
  • Dpy-30

Suggested Antigen Peptide Sequences for DPY30 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58897, moderately similar to Dpy-30-like protein (B4DIS3_HUMAN)
  • Dpy-30-like protein (DPY30_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9C005

UniProtKB/Swiss-Prot:

DPY30_HUMAN :
  • Belongs to the dpy-30 family.
Family:
  • Belongs to the dpy-30 family.
genes like me logo Genes that share domains with DPY30: view

Function for DPY30 Gene

Molecular function for DPY30 Gene

UniProtKB/Swiss-Prot Function:
As part of the MLL1/MLL complex, involved in the methylation of histone H3 at 'Lys-4', particularly trimethylation. Histone H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. May play some role in histone H3 acetylation. In a teratocarcinoma cell, plays a crucial role in retinoic acid-induced differentiation along the neural lineage, regulating gene induction and H3 'Lys-4' methylation at key developmental loci. May also play an indirect or direct role in endosomal transport.

Phenotypes From GWAS Catalog for DPY30 Gene

Gene Ontology (GO) - Molecular Function for DPY30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16189514
GO:0042803 protein homodimerization activity IPI 19556245
genes like me logo Genes that share ontologies with DPY30: view
genes like me logo Genes that share phenotypes with DPY30: view

Animal Models for DPY30 Gene

MGI Knock Outs for DPY30:
  • Dpy30 Dpy30<tm1a(KOMP)Wtsi>

miRNA for DPY30 Gene

miRTarBase miRNAs that target DPY30

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPY30

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DPY30 Gene

Localization for DPY30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DPY30 Gene

Nucleus. Golgi apparatus, trans-Golgi network. Note=Associated with chromatin at regions enriched in histone H3 trimethylated at 'Lys-4. Highly enriched in gene promoter regions and 5' UTRs, but not in downstream regions of genes or 3' UTRs (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DPY30 gene
Compartment Confidence
nucleus 5
golgi apparatus 5
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DPY30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0005634 nucleus IEA,IDA 17500065
GO:0005654 nucleoplasm TAS --
GO:0005794 Golgi apparatus IEA,IDA --
GO:0005802 trans-Golgi network IDA 19651892
genes like me logo Genes that share ontologies with DPY30: view

Pathways & Interactions for DPY30 Gene

genes like me logo Genes that share pathways with DPY30: view

Pathways by source for DPY30 Gene

Gene Ontology (GO) - Biological Process for DPY30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006325 chromatin organization IEA --
GO:0006348 chromatin silencing at telomere IBA 21873635
GO:0016197 endosomal transport IMP 19651892
GO:0045652 regulation of megakaryocyte differentiation TAS --
GO:0051568 histone H3-K4 methylation IDA 19556245
genes like me logo Genes that share ontologies with DPY30: view

No data available for SIGNOR curated interactions for DPY30 Gene

Drugs & Compounds for DPY30 Gene

No Compound Related Data Available

Transcripts for DPY30 Gene

mRNA/cDNA for DPY30 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DPY30

Alternative Splicing Database (ASD) splice patterns (SP) for DPY30 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - -
SP5: - - - - -
SP6: -

Relevant External Links for DPY30 Gene

GeneLoc Exon Structure for
DPY30

Expression for DPY30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DPY30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DPY30 Gene

This gene is overexpressed in Bone (9.0), Fetal Brain (8.4), and Fetal ovary (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DPY30 Gene



Protein tissue co-expression partners for DPY30 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DPY30

SOURCE GeneReport for Unigene cluster for DPY30 Gene:

Hs.531788

Evidence on tissue expression from TISSUES for DPY30 Gene

  • Liver(4.4)
  • Nervous system(3.3)
  • Intestine(2.1)
  • Skin(2)
genes like me logo Genes that share expression patterns with DPY30: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DPY30 Gene

Orthologs for DPY30 Gene

This gene was present in the common ancestor of animals.

Orthologs for DPY30 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DPY30 29 30
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DPY30 30
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DPY30 29 30
  • 95.29 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DPY30 29 30
  • 94.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dpy30 29
  • 93.6 (n)
Oppossum
(Monodelphis domestica)
Mammalia DPY30 30
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Dpy30 29 16 30
  • 92.59 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DPY30 29 30
  • 84.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DPY30 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dpy30 29
  • 75.42 (n)
Str.1272 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.8175 29
Zebrafish
(Danio rerio)
Actinopterygii dpy30 29 30
  • 71.01 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Dpy-30L2 30
  • 31 (a)
OneToMany
Dpy-30L1 30
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea dpy-30 30
  • 28 (a)
OneToOne
Species where no ortholog for DPY30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DPY30 Gene

ENSEMBL:
Gene Tree for DPY30 (if available)
TreeFam:
Gene Tree for DPY30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DPY30: view image
Alliance of Genome Resources:
Additional Orthologs for DPY30

Paralogs for DPY30 Gene

(2) SIMAP similar genes for DPY30 Gene using alignment to 1 proteins:

  • DPY30_HUMAN

Pseudogenes.org Pseudogenes for DPY30 Gene

genes like me logo Genes that share paralogs with DPY30: view

No data available for Paralogs for DPY30 Gene

Variants for DPY30 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DPY30 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for DPY30 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.03; 0.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DPY30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPY30
Leiden Open Variation Database (LOVD)
DPY30

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for DPY30 Gene

Disorders for DPY30 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DPY30 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 5
  • da5
hereditary spastic paraplegia
  • familial spastic paraplegia
kabuki syndrome 1
  • kabuk1
rigid spine muscular dystrophy 1
  • rsmd1
- elite association - COSMIC cancer census association via MalaCards
Search DPY30 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DPY30

genes like me logo Genes that share disorders with DPY30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DPY30 Gene

Publications for DPY30 Gene

  1. Crystal structure of the C-terminal domain of human DPY-30-like protein: A component of the histone methyltransferase complex. (PMID: 19481096) Wang X … Rao Z (Journal of molecular biology 2009) 3 4 22
  2. Characterization and crystallization of human DPY-30-like protein, an essential component of dosage compensation complex. (PMID: 16260194) Dong X … Rao Z (Biochimica et biophysica acta 2005) 2 3 22
  3. DPY30 regulates pathways in cellular senescence through ID protein expression. (PMID: 23872946) Simboeck E … Di Croce L (The EMBO journal 2013) 2 3
  4. On the mechanism of multiple lysine methylation by the human mixed lineage leukemia protein-1 (MLL1) core complex. (PMID: 19556245) Patel A … Cosgrove MS (The Journal of biological chemistry 2009) 3 4
  5. A role of histone H3 lysine 4 methyltransferase components in endosomal trafficking. (PMID: 19651892) Xu Z … Ma D (The Journal of cell biology 2009) 3 4

Products for DPY30 Gene

Sources for DPY30 Gene