Aliases for DPY30 Gene
Aliases for DPY30 Gene
External Ids for DPY30 Gene
- HGNC: 24590
- Entrez Gene: 84661
- Ensembl: ENSG00000162961
- OMIM: 612032
- UniProtKB: Q9C005
Previous GeneCards Identifiers for DPY30 Gene
- GC02M032103
- GC02M031993
- GC02M032093
Summaries 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 PKMTs methylate histone lysines and Chromatin organization. Gene Ontology (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
- Monarch Initiative
- Search for DPY30 at DataMed
- Search for DPY30 at HumanCyc
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
GeneHancer (GH) Regulatory Elements for DPY30 Gene
Promoters and enhancers for DPY30 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around DPY30 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DPY30 gene promoter:
Regulatory Element Products
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:
-
- 2p22.3 by Ensembl
- 2p22.3 by Entrez Gene
- 2p22.3 by HGNC
DPY30 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for DPY30 Gene
Post-translational modifications for DPY30 Gene
Other Protein References for DPY30 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for DPY30
-
Abcam antibodies for DPY30
- Invitrogen Antibodies for DPY30
- Search GeneTex for Antibodies for DPY30
Protein Products
-
OriGene Purified Proteins for DPY30
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- ProSpec Recombinant Proteins for DPY30
- antibodies-online: Search results for 6 available DPY30 Proteins ranked by validation data
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-
Quality Products:
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-
Abcam proteins for DPY30
Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for DPY30 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9C005- Family:
-
- Belongs to the dpy-30 family.
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
| 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 |
Phenotypes for DPY30 Gene
- MGI mutant phenotypes for DPY30:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DPY30:
Animal Models for DPY30 Gene
- MGI Knock Outs for DPY30:
-
- Dpy30 tm1a(KOMP)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for DPY30 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DPY30 gene
- Search ViGene Biosciences for DPY30
CRISPR Products
-
OriGene CRISPR knockouts for DPY30
- genomics-online: gRNA clones - Search results for 133 available DPY30 gene related products
- Overview of 133 available DPY30 gene related products
- Applied Biological Materials CRISPR for DPY30
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPY30
- GenScript: Design CRISPR guide RNA sequences for DPY30
miRNA for DPY30 Gene
- miRTarBase miRNAs that target DPY30
miRNA Products
- Search ViGene Biosciences for DPY30
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for DPY30
- Browse OriGene Inhibitory RNA Products For DPY30
- genomics-online: shRNA clones - Search results for 133 available DPY30 gene related products
- Overview of 133 available DPY30 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DPY30 gene
Clone Products
- Sino Biological Human cDNA Clone for DPY30
- VectorBuilder custom plasmid, inducible vectors for DPY30
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DPY30
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DPY30
- Applied Biological Materials Clones for DPY30
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DPY30
-
ViGene Biosciences adenoviral particle packaged cDNA for DPY30 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DPY30 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DPY30 gene
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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
- Golgi apparatus (4)
- Nucleoplasm (4)
| 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 | IDA,IEA | -- |
| GO:0005802 | trans-Golgi network | IDA | 19651892 |
Pathways & Interactions for DPY30 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
Pathways by source for DPY30 Gene
3 Reactome pathways for DPY30 Gene
Interacting Proteins for DPY30 Gene
Selected Interacting proteins:
Q9C005-DPY30_HUMAN
ENSP00000295066
for DPY30 Gene via
IID
STRING
UniProtKB
MINT
| 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 | -- |
No data available for SIGNOR curated interactions for DPY30 Gene
Transcripts for DPY30 Gene
mRNA/cDNA for DPY30 Gene
- (7) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (318) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DPY30 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DPY30
- genomics-online: gRNA clones - Search results for 133 available DPY30 gene related products
- Overview of 133 available DPY30 gene related products
- Applied Biological Materials CRISPR for DPY30
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DPY30
- GenScript: Design CRISPR guide RNA sequences for DPY30
miRNA Products
- Search ViGene Biosciences for DPY30
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for DPY30
- Browse OriGene Inhibitory RNA Products For DPY30
- genomics-online: shRNA clones - Search results for 133 available DPY30 gene related products
- Overview of 133 available DPY30 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DPY30 gene
Clone Products
- Sino Biological Human cDNA Clone for DPY30
- VectorBuilder custom plasmid, inducible vectors for DPY30
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DPY30
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DPY30
- Applied Biological Materials Clones for DPY30
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||
| SP6: | - |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of DPY30 Gene:
DPY30SOURCE GeneReport for Unigene cluster for DPY30 Gene:
Hs.531788Evidence on tissue expression from TISSUES for DPY30 Gene
- Liver(4.3)
- Nervous system(2.7)
Primer Products
-
OriGene qPCR primer pairs for DPY30
-
OriGene qPCR primer pairs and template standards for DPY30
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DPY30 33 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | DPY30 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DPY30 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | DPY30 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dpy30 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DPY30 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Dpy30 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | DPY30 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | DPY30 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dpy30 33 |
|
||
| Str.1272 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8175 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dpy30 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Dpy-30L2 34 |
|
OneToMany | |
| Dpy-30L1 34 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | dpy-30 34 |
|
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)
Paralogs for DPY30 Gene
(2) SIMAP similar genes for DPY30 Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for DPY30 Gene
No data available for Paralogs for DPY30 Gene
Variants for DPY30 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000012918 | -- | 32,038,291(-) | G/C | intron_variant | |
| rs1000198294 | -- | 32,041,139(-) | G/A | upstream_transcript_variant | |
| rs1000540144 | -- | 32,039,890(-) | G/T | upstream_transcript_variant | |
| rs1000839266 | -- | 32,035,038(-) | G/A | intron_variant | |
| rs1000874182 | -- | 32,012,279(-) | A/G | genic_downstream_transcript_variant, intron_variant |
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
SNP Genotyping and Copy Number Assay Products
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
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kabuki syndrome 1 |
|
|
Search DPY30 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DPY30
No data available for UniProtKB/Swiss-Prot and Genatlas for DPY30 Gene
Publications for DPY30 Gene
- 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 58
- 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 58
- DPY30 regulates pathways in cellular senescence through ID protein expression. (PMID: 23872946) Simboeck E … Di Croce L (The EMBO journal 2013) 2 3 58
- 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 58
- 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 58
Products for DPY30 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DPY30
- antibodies-online: Search results for 8 available DPY30 Antibodies ranked by validation data
- Compare Top DPY30 Antibodies
- Quality Products:
- antibodies-online: Search results for available DPY30 related products ranked by validation data
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- Overview of 133 available DPY30 gene related products
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- Overview of 133 available DPY30 gene related products
Sources for DPY30 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
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