UBE2J1 ubiquitin conjugating enzyme E2 J1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UBE2J1provided by HGNC
Official Full Name: ubiquitin conjugating enzyme E2 J1provided by HGNC
Primary source: HGNC:HGNC:17598
See related: Ensembl:ENSG00000198833 MIM:616175; AllianceGenome:HGNC:17598
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: UBC6; UBC6E; Ubc6p; CGI-76; NCUBE1; HSPC153; HSPC205; NCUBE-1; HSU93243
Summary: The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lymph node (RPKM 49.6), bone marrow (RPKM 46.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q15

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (89326625..89352722, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (90535885..90562092, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (90036344..90062441, complement)

Chromosome 6 - NC_000006.12 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?

UBE2J1 is the E2 ubiquitin-conjugating enzyme regulating androgen receptor degradation and antiandrogen resistance.
Title: UBE2J1 is the E2 ubiquitin-conjugating enzyme regulating androgen receptor degradation and antiandrogen resistance.
UBE2J1 inhibits colorectal cancer progression by promoting ubiquitination and degradation of RPS3.
Title: UBE2J1 inhibits colorectal cancer progression by promoting ubiquitination and degradation of RPS3.
Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer progression via PI3K/AKT pathway.
Title: Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer progression via PI3K/AKT pathway.
These results suggest that UBE2 family member UBE2J1 can negatively regulate type I IFN expression, thereby promote RNA virus infection.
Title: Ubiquitin-conjugating enzyme UBE2J1 negatively modulates interferon pathway and promotes RNA virus infection.
Post-transcriptional regulation of glycoprotein quality control in the endoplasmic reticulum is controlled by the UBC6e.
Title: Posttranscriptional Regulation of Glycoprotein Quality Control in the Endoplasmic Reticulum Is Controlled by the E2 Ub-Conjugating Enzyme UBC6e.
data support a physiological role for HRD1 and UBE2J1 in the homeostatic regulation of MHC class I assembly and expression
Title: HRD1 and UBE2J1 target misfolded MHC class I heavy chains for endoplasmic reticulum-associated degradation.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.
Ubc6e is phosphorylated in response to endoplasmic reticulum stress
Title: Human homologs of Ubc6p ubiquitin-conjugating enzyme and phosphorylation of HsUbc6e in response to endoplasmic reticulum stress.

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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

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-56767 (e-PCR)
- UniSTS:71470

RH104315 (e-PCR)
- UniSTS:98640

WI-11949 (e-PCR)
- UniSTS:77446

RH47544 (e-PCR)
- UniSTS:65962

D6S1202E (e-PCR)
- UniSTS:19426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin conjugating enzyme activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of retrograde protein transport, ER to cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein N-linked glycosylation via asparagine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of macrophage cytokine production	IEA Inferred from Electronic Annotation more info
involved_in regulation of tumor necrosis factor production	IEA Inferred from Electronic Annotation more info
involved_in spermatid development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ubiquitin-conjugating enzyme E2 J1

Names: E2 ubiquitin-conjugating enzyme J1; HSUBC6e; non-canonical ubiquitin-conjugating enzyme 1; ubiquitin-conjugating enzyme E2, J1 (UBC6 homolog, yeast); ubiquitin-conjugating enzyme E2, J1, U; yeast ubiquitin-conjugating enzyme UBC6 homolog E

NP_057105.2

EC 2.3.2.23

XP_011534189.1

EC 2.3.2.23

XP_011534190.1

EC 2.3.2.23

XP_054211559.1

EC 2.3.2.23

XP_054211560.1

EC 2.3.2.23

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_016021.3 → NP_057105.2 ubiquitin-conjugating enzyme E2 J1

See identical proteins and their annotated locations for NP_057105.2

Status: REVIEWED

Source sequence(s)

AF151834, AJ420522, AJ420578, BC013973

Consensus CDS

CCDS5021.1

UniProtKB/Swiss-Prot

A8K3F9, Q53F25, Q5W0N4, Q9BZ32, Q9NQL3, Q9NY66, Q9P011, Q9P0S0, Q9UF10, Q9Y385

UniProtKB/TrEMBL

B4DUF8

Related

ENSP00000451261.1, ENST00000435041.3

Conserved Domains (1) summary

cd00195
Location:12 → 119

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...

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_000006.12 Reference GRCh38.p14 Primary Assembly

Range

89326625..89352722 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011535887.3 → XP_011534189.1 ubiquitin-conjugating enzyme E2 J1 isoform X1

UniProtKB/TrEMBL

B4DUF8

Conserved Domains (1) summary

cd00195
Location:12 → 119

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...
XM_011535888.4 → XP_011534190.1 ubiquitin-conjugating enzyme E2 J1 isoform X2

Conserved Domains (1) summary

cd00195
Location:12 → 119

UBCc; Ubiquitin-conjugating enzyme E2, catalytic (UBCc) domain. This is part of the ubiquitin-mediated protein degradation pathway in which a thiol-ester linkage forms between a conserved cysteine and the C-terminus of ubiquitin and complexes with ubiquitin ...