Human Gene DPY30 (ENST00000342166.10_7) from GENCODE V47lift37
  Description: dpy-30 histone methyltransferase complex regulatory subunit, transcript variant 5 (from RefSeq NR_135587.1)
Gencode Transcript: ENST00000342166.10_7
Gencode Gene: ENSG00000162961.14_10
Transcript (Including UTRs)
   Position: hg19 chr2:32,248,974-32,264,874 Size: 15,901 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr2:32,249,253-32,264,525 Size: 15,273 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:32,248,974-32,264,874)mRNA (may differ from genome)Protein (99 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DPY30_HUMAN
DESCRIPTION: RecName: Full=Protein dpy-30 homolog; AltName: Full=Dpy-30-like protein; Short=Dpy-30L;
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.
SUBUNIT: 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 (MLL, MLL2/ALR, MLL3 and MLL4/WBP7), 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.
INTERACTION: Self; NbExp=3; IntAct=EBI-744973, EBI-744973; Q9UBL3:ASH2L; NbExp=5; IntAct=EBI-744973, EBI-540797;
SUBCELLULAR LOCATION: 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).
SIMILARITY: Belongs to the dpy-30 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DPY30
Diseases sorted by gene-association score: kabuki syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 26.82 RPKM in Adrenal Gland
Total median expression: 827.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -50.70109-0.465 Picture PostScript Text
3' UTR -42.40279-0.152 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007858 - Dpy-30_motif

Pfam Domains:
PF05186 - Dpy-30 motif

SCOP Domains:
47391 - Dimerization-anchoring domain of cAMP-dependent PK regulatory subunit

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3G36 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9C005
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0018024 histone-lysine N-methyltransferase activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0042800 histone methyltransferase activity (H3-K4 specific)

Biological Process:
GO:0006325 chromatin organization
GO:0006348 chromatin silencing at telomere
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016197 endosomal transport
GO:0045652 regulation of megakaryocyte differentiation
GO:0051568 histone H3-K4 methylation

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0035097 histone methyltransferase complex
GO:0044666 MLL3/4 complex
GO:0048188 Set1C/COMPASS complex


-  Descriptions from all associated GenBank mRNAs
  AK295755 - Homo sapiens cDNA FLJ58897 complete cds, moderately similar to Dpy-30-like protein.
BC015970 - Homo sapiens dpy-30 homolog (C. elegans), mRNA (cDNA clone MGC:23700 IMAGE:4081996), complete cds.
AF226998 - Homo sapiens dpy-30-like protein mRNA, complete cds.
KJ899820 - Synthetic construct Homo sapiens clone ccsbBroadEn_09214 DPY30 gene, encodes complete protein.
JD109212 - Sequence 90236 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9C005 (Reactome details) participates in the following event(s):

R-HSA-8935740 RUNX1 and GATA1 bind the promoter of the ITGA2B gene
R-HSA-8936616 RUNX1 and GATA1 bind the promoter of the GP1BA gene
R-HSA-8936979 RUNX1 and GATA1 bind the promoter of the THBS1 gene
R-HSA-8937037 RUNX1 and GATA1 bind the promoter of the MIR27A gene
R-HSA-8936481 Core MLL complex methylates H3K4Me2-Nucleosome at the ITGA2B gene promoter
R-HSA-8936621 Core MLL complex methylates H3K4Me2-Nucleosome at the GP1BA gene promoter
R-HSA-8937016 Core MLL complex methylates H3K4Me2-Nucleosome at the THBS1 gene promoter
R-HSA-8937050 Core MLL complex methylates H3K4Me2-Nucleosome at the MIR27A gene promoter
R-HSA-5159245 SETD3, SETD7 (KMT7), WHSC1L1 (KMT3F), Core MLL complex methylate lysine-5 of histone H3 (H3K4)
R-HSA-5244692 Core MLL complex, SMYD3, PRDM9 methylate dimethyl-lysine-5 of histone H3 (H3K4)
R-HSA-5637686 WHSC1L1 (KMT3F), Core MLL complex, SMYD3 (KMT3E) methylate methyl-lysine-5 of histone H3 (H3K4)
R-HSA-8936459 RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-3214841 PKMTs methylate histone lysines
R-HSA-212436 Generic Transcription Pathway
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-4839726 Chromatin organization
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: D6W578, DPY30_HUMAN, ENST00000342166.1, ENST00000342166.2, ENST00000342166.3, ENST00000342166.4, ENST00000342166.5, ENST00000342166.6, ENST00000342166.7, ENST00000342166.8, ENST00000342166.9, NR_135587, Q9C005, uc317wgj.1, uc317wgj.2
UCSC ID: ENST00000342166.10_7
RefSeq Accession: NM_001321209.2
Protein: Q9C005 (aka DPY30_HUMAN or DP30_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.