DTX1 deltex E3 ubiquitin ligase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DTX1provided by HGNC
Official Full Name: deltex E3 ubiquitin ligase 1provided by HGNC
Primary source: HGNC:HGNC:3060
See related: Ensembl:ENSG00000135144 MIM:602582; AllianceGenome:HGNC:3060
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hDx-1; RNF140
Summary: Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lymph node (RPKM 13.1), spleen (RPKM 9.7) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (113056730..113098025)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (113033383..113074667)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (113494535..113535830)

Chromosome 12 - NC_000012.12 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 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?

Effect of genetic variation in Notch regulator DTX1 on SCLC prognosis compared with the effect on NSCLC prongosis.
Title: Effect of genetic variation in Notch regulator DTX1 on SCLC prognosis compared with the effect on NSCLC prongosis.
DTX1 rs1732786 single nucleotide polymorphism is associated with lung Cancer.
Title: Genetic Variant of Notch Regulator DTX1 Predicts Survival After Lung Cancer Surgery.
frameshift mutations in DTX1 and NLRC5, two genes involved in immune regulation, were identified in a family with familial pityriasis rubra pilaris.
Title: Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - lessons from a family with PRP and psoriasis.
DTX1 is an E3 ligase for c-FLIP in gastric cancer cells.
Title: c-FLIP is a target of the E3 ligase deltex1 in gastric cancer.
Deltex-1 mutations predict poor survival in diffuse large B-cell lymphoma
Title: Deltex-1 mutations predict poor survival in diffuse large B-cell lymphoma.
PI5P4Kgamma positively regulates the DTX1-mediated Notch pathway by promoting receptor recycling
Title: PI5P4Kγ functions in DTX1-mediated Notch signaling.
Data indicate that decreased expression of deltex E3 ubiquitin ligase 1 (DTX1) in head and neck squamous cell carcinoma (HNSCC) tumors maybe associated with NOTCH pathway activation and increased migration potential.
Title: Integrative computational analysis of transcriptional and epigenetic alterations implicates DTX1 as a putative tumor suppressor gene in HNSCC.
Two SNPs (rs2384077 and rs10744794) in an intron of DTX1 and the linkage disequilibrium (LD) block are significantly associated with the immune response to HBV vaccination.
Title: Deltex1 Polymorphisms Are Associated with Hepatitis B Vaccination Non-Response in Southwest China.
this study reports the identification of two new hGIP-interacting partners, DTX1 and STAU1.
Title: New partner proteins containing novel internal recognition motif for human glutaminase interacting protein (hGIP).
characterization of two genes expressed in centroblasts of human tonsils: deltex (Drosophila) homolog 1 (DTX1), which is related to the Notch pathway and a new Kelch-like protein, KLHL6
Title: Specific over-expression of deltex and a new Kelch-like protein in human germinal center B cells.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. 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

SHGC-147414 (e-PCR)
- UniSTS:172800

SHGC-146048 (e-PCR)
- UniSTS:174961

SHGC-64337 (e-PCR)
- UniSTS:31126

RH45549 (e-PCR)
- UniSTS:65944

MARC_26600-26601:1033757626:1 (e-PCR)
- UniSTS:269037

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Notch binding	IDA Inferred from Direct Assay more info	PubMed
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in glial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear body	IDA Inferred from Direct Assay more info
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase DTX1

Names: RING-type E3 ubiquitin transferase DTX1; deltex 1, E3 ubiquitin ligase; deltex homolog 1; protein deltex-1

NP_004407.2

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_004416.3 → NP_004407.2 E3 ubiquitin-protein ligase DTX1

See identical proteins and their annotated locations for NP_004407.2

Status: REVIEWED

Source sequence(s)

AC089999

Consensus CDS

CCDS9164.1

UniProtKB/Swiss-Prot

O60630, Q86Y01, Q9BS04

Related

ENSP00000510707.1, ENST00000548759.2

Conserved Domains (3) summary

smart00678
Location:26 → 102

WWE; Domain in Deltex and TRIP12 homologues. Possibly involved in regulation of ubiquitin-mediated proteolysis

cd09633
Location:480 → 612

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

cd16671
Location:408 → 476

RING-H2_DTX1_4; RING finger, H2 subclass, found in E3 ubiquitin-protein ligase deltex1 (DTX1), deltex4 (DTX4), and similar proteins