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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
These results reveal a critical role of DPY30 in glucose homeostasis.
Title: DPY30 functions in glucose homeostasis via integrating activated histone epigenetic modifications.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2830 (e-PCR)
- UniSTS:18984

RH36577 (e-PCR)
- UniSTS:26328

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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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)

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
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
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

NR_135585.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AV725116, BM505380, BQ276899
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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

32011649..32039835 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DIS3
XM_047446038.1 → XP_047301994.1 protein dpy-30 homolog isoform X1

UniProtKB/TrEMBL

B4DIS3
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
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
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
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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

32060057..32088234 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B4DIS3
XM_054344216.1 → XP_054200191.1 protein dpy-30 homolog isoform X1

UniProtKB/TrEMBL

B4DIS3