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Aliases for DPY30 Gene

Aliases for DPY30 Gene

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

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 Kabuki Syndrome 1. Among its related pathways are Chromatin organization and PKMTs methylate histone lysines. GO annotations related to this gene include protein homodimerization activity and identical protein binding.

UniProtKB/Swiss-Prot 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.

Additional gene information for DPY30 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DPY30 Gene

Genomics for DPY30 Gene

Regulatory Elements for DPY30 Gene

Enhancers for DPY30 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H032007 1 Ensembl dbSUPER 10.9 +32.5 32540 0.2 ELF3 SOX13 FOXA2 SAP130 ARID4B CEBPG KMT2B RARA YY1 TEAD3 DPY30 MEMO1 GC02P031938
GH02H031963 0.9 Ensembl dbSUPER 11.1 +76.7 76740 0.2 ZNF10 MAFG BATF GATA3 ZNF316 HMBOX1 MAFK EMSY MEMO1 DPY30 SLC30A6 GC02P031938
GH02H032135 0.9 Ensembl ENCODE 10.7 -96.0 -96014 1.7 CTCF JUN USF2 CEBPB EP300 RAD21 ZNF592 FOSL1 ETS2 JUND SLC30A6 RNU6-647P DPY30 MEMO1 GC02P032156 GC02M032061
GH02H031956 0.9 Ensembl ENCODE dbSUPER 10.6 +82.1 82054 2.8 IKZF1 RUNX3 MEMO1 DPY30 SLC30A6 GC02P031938
GH02H031988 0.9 ENCODE dbSUPER 10.5 +52.2 52214 0.2 JUN CEBPB JUNB ZEB2 EP300 ATF2 JUND PRDM6 ZNF366 ZNF629 MEMO1 DPY30 SLC30A6 GC02P031938
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DPY30 on UCSC Golden Path with GeneCards custom track

Promoters for DPY30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114958 40 1600 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207

Genomic Locations for DPY30 Gene

Genomic Locations for DPY30 Gene
chr2:31,867,809-32,039,840
(GRCh38/hg38)
Size:
172,032 bases
Orientation:
Minus strand
chr2:32,092,878-32,264,881
(GRCh37/hg19)

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 isoforms=35 and isoforms=45
  • Modification sites at PhosphoSitePlus

Other Protein References for DPY30 Gene

No data available for DME Specific Peptides for DPY30 Gene

Domains & Families for DPY30 Gene

Gene Families for DPY30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DPY30 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DPY30 Gene

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:0018024 histone-lysine N-methyltransferase activity TAS --
GO:0042800 contributes_to histone methyltransferase activity (H3-K4 specific) IBA --
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:

Animal Model Products

miRNA for DPY30 Gene

miRTarBase miRNAs that target DPY30

Clone Products

  • Addgene plasmids 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
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Nucleoplasm (4)
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 IDA,IEA 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:0006348 chromatin silencing at telomere IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016197 endosomal transport IMP 19651892
GO:0016569 covalent chromatin modification IEA --
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

Unigene Clusters for DPY30 Gene

Dpy-30 homolog (C. elegans):
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
DPY30

Expression for DPY30 Gene

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

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, PaxDb, MaxQB, and MOPED for DPY30 Gene



Protein tissue co-expression partners for DPY30 Gene

NURSA nuclear receptor signaling pathways regulating expression of DPY30 Gene:

DPY30

SOURCE GeneReport for Unigene cluster for DPY30 Gene:

Hs.531788

Evidence on tissue expression from TISSUES for DPY30 Gene

  • Liver(4.3)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with DPY30: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 100 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DPY30 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DPY30 33 34
  • 95.29 (n)
cow
(Bos Taurus)
Mammalia DPY30 33 34
  • 94.95 (n)
rat
(Rattus norvegicus)
Mammalia Dpy30 33
  • 93.6 (n)
oppossum
(Monodelphis domestica)
Mammalia DPY30 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dpy30 33 16 34
  • 92.59 (n)
chicken
(Gallus gallus)
Aves DPY30 33 34
  • 84.18 (n)
lizard
(Anolis carolinensis)
Reptilia DPY30 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dpy30 33
  • 75.42 (n)
Str.1272 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.8175 33
zebrafish
(Danio rerio)
Actinopterygii dpy30 33 34
  • 71.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta Dpy-30L2 34
  • 31 (a)
OneToMany
Dpy-30L1 34
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dpy-30 34
  • 28 (a)
OneToOne
Species where no ortholog for DPY30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for DPY30 Gene

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

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

Sequence variations from dbSNP and Humsavar for DPY30 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000012918 -- 32,038,291(+) GAGAG(C/G)AGGTT intron-variant
rs1000198294 -- 32,041,139(+) GTGTG(A/G)GCGTG upstream-variant-2KB
rs1000540144 -- 32,039,890(+) CGTCA(G/T)TCCCC upstream-variant-2KB
rs1000839266 -- 32,035,038(+) CGGGA(A/G)GCAGA intron-variant
rs1000874182 -- 32,012,279(+) CTCTC(A/G)TACCT intron-variant, upstream-variant-2KB

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)

Relevant External Links for DPY30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DPY30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DPY30 Gene

Disorders for DPY30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DPY30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search DPY30 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DPY30

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. DPY30 regulates pathways in cellular senescence through ID protein expression. (PMID: 23872946) Simboeck E … Di Croce L (The EMBO journal 2013) 2 3 60
  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 60
  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 60

Products for DPY30 Gene

Sources for DPY30 Gene

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