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    UBE2K ubiquitin conjugating enzyme E2 K [ Homo sapiens (human) ]

    Gene ID: 3093, updated on 3-Nov-2024

    Summary

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    Official Symbol
    UBE2Kprovided by HGNC
    Official Full Name
    ubiquitin conjugating enzyme E2 Kprovided by HGNC
    Primary source
    HGNC:HGNC:4914
    See related
    Ensembl:ENSG00000078140 MIM:602846; AllianceGenome:HGNC:4914
    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
    LIG; HIP2; HYPG; UBC1; E2-25K
    Summary
    The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntington's disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in brain (RPKM 24.1), thyroid (RPKM 17.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See UBE2K in Genome Data Viewer
    Location:
    4p14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (39698136..39782792)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (39667902..39752430)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39699756..39784412)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21464 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:39640427-39641144 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:39642916-39643511 Neighboring gene RNA, U7 small nuclear 11 pseudogene Neighboring gene SMIM14 divergent transcript Neighboring gene MPRA-validated peak5027 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21465 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15372 Neighboring gene RNA, 7SL, cytoplasmic 558, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:39787697-39788198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:39788199-39788698 Neighboring gene zinc finger and BTB domain containing 12B, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:39821819-39822356 Neighboring gene PDS5 cohesin associated factor A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21469 Neighboring gene RNA, 5S ribosomal pseudogene 159 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21470 Neighboring gene Sharpr-MPRA regulatory region 4409 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 1

    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. Silencing UBE2K inhibits the growth of glioma cells by inducing the autophagy-related apoptosis. Xin Z, et al. J Biochem Mol Toxicol, 2024 Jul. PMID 38963134
    2. Blood and brain protein levels of ubiquitin-conjugating enzyme E2K (UBE2K) are elevated in individuals with schizophrenia. Meiklejohn H, et al. J Psychiatr Res, 2019 Jun. PMID 30901725
    3. Hip2 ubiquitin-conjugating enzyme has a role in UV-induced G1/S arrest and re-entry. Hong NH, et al. Genes Genomics, 2019 Feb. PMID 30264212
    4. Active Site Gate Dynamics Modulate the Catalytic Activity of the Ubiquitination Enzyme E2-25K. Rout MK, et al. Sci Rep, 2018 May 3. PMID 29725124, Free PMC Article
    5. Regulation of macrophage-specific gene expression by degenerated lipoproteins. Furukawa Y, et al. Electrophoresis, 2000 Jan. PMID 10675012

    See all (140) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Silencing UBE2K inhibits the growth of glioma cells by inducing the autophagy-related apoptosis.
      Title: Silencing UBE2K inhibits the growth of glioma cells by inducing the autophagy-related apoptosis.
    2. Simulation and Computational Study of RING Domain Mutants of BRCA1 and Ube2k in AD/PD Pathophysiology.
      Title: Simulation and Computational Study of RING Domain Mutants of BRCA1 and Ube2k in AD/PD Pathophysiology.
    3. Hypoxia-induced UBE2K promotes the malignant progression of HCC.
      Title: Hypoxia-induced UBE2K promotes the malignant progression of HCC.
    4. UBE2K promotes the malignant progression of hepatocellular carcinoma by regulating c-Myc.
      Title: UBE2K promotes the malignant progression of hepatocellular carcinoma by regulating c-Myc.
    5. The ubiquitin-conjugating enzyme UBE2K determines neurogenic potential through histone H3 in human embryonic stem cells.
      Title: The ubiquitin-conjugating enzyme UBE2K determines neurogenic potential through histone H3 in human embryonic stem cells.
    6. Expression of UBE2K's transcript has been shown to be dysregulated in the brain of individuals with a psychiatric illness and in the blood transcript expression was associated with positive symptom severity in schizophrenia.
      Title: Blood and brain protein levels of ubiquitin-conjugating enzyme E2K (UBE2K) are elevated in individuals with schizophrenia.
    7. The data indicate that active site gate opening and closing rates for E2-25K are precisely balanced.
      Title: Active Site Gate Dynamics Modulate the Catalytic Activity of the Ubiquitination Enzyme E2-25K.
    8. Crystal structure of the Ube2K/E2-25K and K48-linked diubiquitin complex provides structural insight into the mechanism of K48-specific ubiquitin chain synthesis.
      Title: Crystal structure of the Ube2K/E2-25K and K48-linked di-ubiquitin complex provides structural insight into the mechanism of K48-specific ubiquitin chain synthesis.
    9. Hip2 works as a regulator in UV-induced cell cycle arrest and re-entry.
      Title: Hip2 ubiquitin-conjugating enzyme has a role in UV-induced G1/S arrest and re-entry.
    10. The crystal structure of a Ube2K~ubiquitin conjugate has been described, and it was shown that even though it is monomeric, Ube2K can synthesize Lys48-linked ubiquitin chains.
      Title: The molecular basis of lysine 48 ubiquitin chain synthesis by Ube2K.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    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 genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp564C1216, DKFZp686J24237

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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-ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to interferon-beta IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in free ubiquitin chain polymerization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of type I interferon-mediated signaling pathway 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 polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in filopodium tip IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 K
    Names
    E2 ubiquitin-conjugating enzyme K
    E2(25K)
    HIP-2
    huntingtin-interacting protein 2
    ubiquitin carrier protein
    ubiquitin conjugating enzyme E2K
    ubiquitin-conjugating enzyme E2(25K)
    ubiquitin-conjugating enzyme E2-25 KDA
    ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast)
    ubiquitin-protein ligase
    NP_001104582.1
    NP_001104583.1
    NP_001299575.1
    NP_001299576.1
    NP_001299577.1
    NP_005330.1
    XP_047306112.1
    XP_047306113.1
    XP_047306114.1
    XP_054205837.1
    XP_054205838.1
    XP_054205839.1

    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_001111112.2 → NP_001104582.1  ubiquitin-conjugating enzyme E2 K isoform 2

      See identical proteins and their annotated locations for NP_001104582.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC105287, BU622273, CX786829, DA526283
      Consensus CDS
      CCDS47043.1
      UniProtKB/Swiss-Prot
      P61086
      Related
      ENSP00000390483.2, ENST00000445950.2
      Conserved Domains (2) summary
      cd00195
      Location:6 → 133
      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 ...
      cl21463
      Location:132 → 157
      UBA_like_SF; UBA domain-like superfamily

    2. NM_001111113.2 → NP_001104583.1  ubiquitin-conjugating enzyme E2 K isoform 3

      See identical proteins and their annotated locations for NP_001104583.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC105287, AK291454, BU622273, DA526283
      Consensus CDS
      CCDS47044.1
      UniProtKB/Swiss-Prot
      P61086
      Related
      ENSP00000421203.1, ENST00000503368.5
      Conserved Domains (2) summary
      smart00212
      Location:22 → 103
      UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
      cl21463
      Location:112 → 149
      UBA_like_SF; UBA domain-like superfamily

    3. NM_001312646.2 → NP_001299575.1  ubiquitin-conjugating enzyme E2 K isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC105287, AK295846, BU622273
      UniProtKB/TrEMBL
      B4DIZ2, D6RDM7
      Related
      ENSP00000425301.1, ENST00000510934.5
      Conserved Domains (2) summary
      cd14390
      Location:102 → 139
      UBA_II_E2_UBE2K; UBA domain of vertebrate ubiquitin-conjugating enzyme E2 K (UBE2K)
      cl00154
      Location:6 → 80
      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 ...

    4. NM_001312647.2 → NP_001299576.1  ubiquitin-conjugating enzyme E2 K isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice junction at the 3' end of the first exon and initiates translation at an alternate downstream start codon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (5).
      Source sequence(s)
      AC105287, AK093533, BU622273, DA526283
      UniProtKB/TrEMBL
      B3KSH4
      Conserved Domains (2) summary
      cl00154
      Location:1 → 51
      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 ...
      cl21463
      Location:60 → 97
      UBA_like_SF; UBA domain-like superfamily

    5. NM_001312648.2 → NP_001299577.1  ubiquitin-conjugating enzyme E2 K isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon and initiates translation at an alternate downstream start codon compared to variant 1. The resulting isoform (5) is shorter at the N-terminus compared to isoform 1. Variants 5 and 6 both encode the same isoform (5).
      Source sequence(s)
      AC105287, AK307130, BU622273, DA526283
      UniProtKB/TrEMBL
      B3KSH4
      Conserved Domains (2) summary
      cl00154
      Location:1 → 51
      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 ...
      cl21463
      Location:60 → 97
      UBA_like_SF; UBA domain-like superfamily

    6. NM_005339.5 → NP_005330.1  ubiquitin-conjugating enzyme E2 K isoform 1

      See identical proteins and their annotated locations for NP_005330.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC105287, BC022804, BU622273, DA526283
      Consensus CDS
      CCDS33976.1
      UniProtKB/Swiss-Prot
      A6NJC1, A8K5Y9, B2RDF8, C9JGP1, O54806, P27924, P61086, Q16721, Q9CVV9, Q9Y2D3
      Related
      ENSP00000261427.5, ENST00000261427.10
      Conserved Domains (2) summary
      cd00195
      Location:6 → 149
      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 ...
      cd14390
      Location:163 → 200
      UBA_II_E2_UBE2K; UBA domain of vertebrate ubiquitin-conjugating enzyme E2 K (UBE2K)

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      39698136..39782792
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047450156.1 → XP_047306112.1  ubiquitin-conjugating enzyme E2 K isoform X1

    2. XM_047450158.1 → XP_047306114.1  ubiquitin-conjugating enzyme E2 K isoform X2

      UniProtKB/TrEMBL
      B3KSH4

    3. XM_047450157.1 → XP_047306113.1  ubiquitin-conjugating enzyme E2 K isoform X2

      UniProtKB/TrEMBL
      B3KSH4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      39667902..39752430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349862.1 → XP_054205837.1  ubiquitin-conjugating enzyme E2 K isoform X1

    2. XM_054349864.1 → XP_054205839.1  ubiquitin-conjugating enzyme E2 K isoform X2

      UniProtKB/TrEMBL
      B3KSH4

    3. XM_054349863.1 → XP_054205838.1  ubiquitin-conjugating enzyme E2 K isoform X2

      UniProtKB/TrEMBL
      B3KSH4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032733.1: Suppressed sequence

      Description
      NM_032733.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P61086.3 GenPept UniProtKB/Swiss-Prot:P61086

    Gene LinkOut

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