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

    Gene ID: 51465, updated on 28-Oct-2024

    Summary

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    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

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    See UBE2J1 in Genome Data Viewer
    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_000006.12Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit rho1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24820 Neighboring gene gamma-aminobutyric acid type A receptor subunit rho2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17388 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:90007048-90008247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24822 Neighboring gene tubulin beta 3 class III pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90061747-90062696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24824 Neighboring gene Sharpr-MPRA regulatory region 13381 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24826 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90084816-90085316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90085317-90085817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24828 Neighboring gene Ras related GTP binding D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17394 Neighboring gene NACA pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. UBE2J1 is the E2 ubiquitin-conjugating enzyme regulating androgen receptor degradation and antiandrogen resistance. Rodriguez Tirado C, et al. Oncogene, 2024 Jan. PMID 38030789, Free PMC Article
    2. Ubiquitin-conjugating enzyme UBE2J1 negatively modulates interferon pathway and promotes RNA virus infection. Feng T, et al. Virol J, 2018 Aug 29. PMID 30157886, Free PMC Article
    3. The role of ubiquitin-conjugating enzyme Ube2j1 phosphorylation and its degradation by proteasome during endoplasmic stress recovery. Elangovan M, et al. J Cell Commun Signal, 2017 Sep. PMID 28321712, Free PMC Article
    4. Posttranscriptional Regulation of Glycoprotein Quality Control in the Endoplasmic Reticulum Is Controlled by the E2 Ub-Conjugating Enzyme UBC6e. Hagiwara M, et al. Mol Cell, 2016 Sep 1. PMID 27570074, Free PMC Article
    5. The ER-embedded UBE2J1/RNF26 ubiquitylation complex exerts spatiotemporal control over the endolysosomal pathway. Cremer T, et al. Cell Rep, 2021 Jan 19. PMID 33472082

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    Submit: New GeneRIF Correction

    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)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC12555

    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
    XP_011534189.1
    XP_011534190.1
    XP_054211559.1
    XP_054211560.1

    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)

    1. 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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      89326625..89352722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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 ...

    2. 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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      90535885..90562092 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355584.1 → XP_054211559.1  ubiquitin-conjugating enzyme E2 J1 isoform X1

    2. XM_054355585.1 → XP_054211560.1  ubiquitin-conjugating enzyme E2 J1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y385.2 GenPept UniProtKB/Swiss-Prot:Q9Y385

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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