DTX3L deltex E3 ubiquitin ligase 3L [Homo sapiens (human)] - Gene

Summary

Official Symbol: DTX3Lprovided by HGNC
Official Full Name: deltex E3 ubiquitin ligase 3Lprovided by HGNC
Primary source: HGNC:HGNC:30323
See related: Ensembl:ENSG00000163840 MIM:613143; AllianceGenome:HGNC:30323
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: BBAP; RNF143
Summary: Enables several functions, including STAT family protein binding activity; ubiquitin-like protein ligase binding activity; and ubiquitin-protein transferase activity. Involved in several processes, including positive regulation of macromolecule metabolic process; positive regulation of protein localization; and protein ubiquitination. Located in cytosol; lysosome; and nucleoplasm. Part of protein-containing complex. Colocalizes with early endosome and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in appendix (RPKM 14.2), spleen (RPKM 13.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (122564338..122575203)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (125283584..125294443)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (122283185..122294050)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

DELTEX E3 ligases ubiquitylate ADP-ribosyl modification on nucleic acids.
Title: DELTEX E3 ligases ubiquitylate ADP-ribosyl modification on nucleic acids.
DTX3L mediated ubiquitination of cGAS suppresses antitumor immunity in pancreatic cancer.
Title: DTX3L mediated ubiquitination of cGAS suppresses antitumor immunity in pancreatic cancer.
The SARS-CoV-2 Nsp3 macrodomain reverses PARP9/DTX3L-dependent ADP-ribosylation induced by interferon signaling.
Title: The SARS-CoV-2 Nsp3 macrodomain reverses PARP9/DTX3L-dependent ADP-ribosylation induced by interferon signaling.
Immunohistochemical analysis demonstrated that DTX3L was highly expressed in the glioma tissues and its level was correlated with the grade of malignancy. Multivariate analysis revealed the association between high expression of DTX3L and the poor prognosis of glioma patients. In addition, knockdown of DTX3L by siRNA transfection increased glioma cell apoptosis.
Title: DTX3L is upregulated in glioma and is associated with glioma progression.
Dtx3L heterodimerization with Parp9 enables NAD(+) and poly(ADP-ribose) regulation of E3 activity.
Title: Ubiquitin Modification by the E3 Ligase/ADP-Ribosyltransferase Dtx3L/Parp9.
we also found that DTX3L expression was regulated by focal adhesion kinase. Taken together, the results of this study show that DTX3L plays an important role in the proliferation and cell adhesion-mediated drug resistance of multiple myeloma cells and as such may play a key role in the development of multiple myeloma.
Title: Effects of DTX3L on the cell proliferation, adhesion, and drug resistance of multiple myeloma cells.
A novel role for the really interesting new gene-domain E3 ubiquitin ligase deltex-3-like (DTX3L) in regulating CXCR4 sorting from endosomes to lysosomes.
Title: The ubiquitin ligase deltex-3l regulates endosomal sorting of the G protein-coupled receptor CXCR4.
The present study further suggests that the combined targeted inhibition of STAT1, ARTD8, ARTD9 and/or DTX3L could increase the efficacy of chemotherapy or radiation treatment in prostate and other high-risk tumor types with an increased STAT1 signaling.
Title: DTX3L and ARTD9 inhibit IRF1 expression and mediate in cooperation with ARTD8 survival and proliferation of metastatic prostate cancer cells.
Data establish that BAL1 and BBAP are bona fide members of a DNA damage response pathway and are directly associated with PARP1 activation, BRCA1 recruitment, and double-strand break repair.
Title: BAL1 and its partner E3 ligase, BBAP, link Poly(ADP-ribose) activation, ubiquitylation, and double-strand DNA repair independent of ATM, MDC1, and RNF8.
we report the high-resolution crystal structure of this previously uncharacterized C-terminal domain of human DTX3L, which we term the Deltex C-terminal domain.
Title: Fold of the conserved DTC domain in Deltex proteins.

Submit: New GeneRIF Correction See all GeneRIFs (14)

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
A mega-analysis of genome-wide association studies for major depressive disorder. 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

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

RH35942 (e-PCR)
- UniSTS:17263

WI-11383 (e-PCR)
- UniSTS:12950

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables STAT family protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables histone H4K91 ubiquitin ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone ubiquitin ligase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein ADP-ribosyltransferase-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-like protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA repair-dependent chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome to lysosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of chromatin binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of defense response to virus by host	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to early endosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein localization to nucleus	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of receptor catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein K48-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
colocalizes_with early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
colocalizes_with nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase DTX3L

Names: B-lymphoma- and BAL-associated protein; RING-type E3 ubiquitin transferase DTX3L; deltex 3 like, E3 ubiquitin ligase; deltex 3-like; rhysin-2; rhysin2

NP_612144.1

EC 2.3.2.27

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_138287.3 → NP_612144.1 E3 ubiquitin-protein ligase DTX3L

See identical proteins and their annotated locations for NP_612144.1

Status: VALIDATED

Source sequence(s)

AC092908

Consensus CDS

CCDS3015.1

UniProtKB/Swiss-Prot

B3KWH6, Q53ZZ3, Q5MJP7, Q8TDB6

Related

ENSP00000296161.4, ENST00000296161.9

Conserved Domains (3) summary

cd09633
Location:608 → 738

Deltex_C; Domain found at the C-terminus of deltex-like

cd12300
Location:8 → 86

RRM1_PAR14; RNA recognition motif 1 in vertebrate poly [ADP-ribose] polymerase 14 (PARP-14)

cd16712
Location:560 → 600

RING-HC_DTX3L; RING finger, HC subclass, found in protein Deltex-3-like (DTX3L) and similar proteins