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

Gene ID: 3093, updated on 9-Dec-2018

Summary

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
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

Genomic context

See UBE2K in Genome Data Viewer
Location:
4p14
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (39698044..39782792)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (39699664..39784412)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 14 Neighboring gene uncharacterized LOC105374419 Neighboring gene RNA, U7 small nuclear 11 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 558, pseudogene Neighboring gene zinc finger and BTB domain containing 12B, pseudogene Neighboring gene PDS5 cohesin associated factor A Neighboring gene RNA, 5S ribosomal pseudogene 159 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly.
NHGRI GWA Catalog

Pathways from BioSystems

  • Adaptive Immune System, organism-specific biosystem (from REACTOME)
    Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
  • Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystem (from REACTOME)
    Antigen processing: Ubiquitination & Proteasome degradation, organism-specific biosystemIntracellular foreign or aberrant host proteins are cleaved into peptide fragments of a precise size, such that they can be loaded on to class I MHC molecules and presented externally to cytotoxic T ...
  • Class I MHC mediated antigen processing & presentation, organism-specific biosystem (from REACTOME)
    Class I MHC mediated antigen processing & presentation, organism-specific biosystemMajor histocompatibility complex (MHC) class I molecules play an important role in cell mediated immunity by reporting on intracellular events such as viral infection, the presence of intracellular b...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystem (from REACTOME)
    Negative regulators of RIG-I/MDA5 signaling, organism-specific biosystemAs with other cytokine systems, production of type I IFN is a transient process, and can be hazardous to the host if unregulated, resulting in chronic cellular toxicity or inflammatory and autoimmune...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Protein ubiquitination, organism-specific biosystem (from REACTOME)
    Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystem (from REACTOME)
    Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystemUbiquitin monomers are processed from larger precursors and then activated by formation of a thiol ester bond between ubiquitin and a cysteine residue of an E1 activating enzyme (UBA1 or UBA6, Jin et...
  • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
    Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
  • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
    Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564C1216, DKFZp686J24237

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin conjugating enzyme activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-ubiquitin ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
filopodium tip IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001111112.1NP_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:6133
    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:132157
    UBA_like_SF; UBA domain-like superfamily
  2. NM_001111113.1NP_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:22103
    UBCc; Ubiquitin-conjugating enzyme E2, catalytic domain homologues
    cl21463
    Location:112149
    UBA_like_SF; UBA domain-like superfamily
  3. NM_001312646.1NP_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, DA526283
    UniProtKB/TrEMBL
    B4DIZ2
    Related
    ENSP00000425301.1, ENST00000510934.5
    Conserved Domains (2) summary
    cd14390
    Location:102139
    UBA_II_E2_UBE2K; UBA domain of vertebrate ubiquitin-conjugating enzyme E2 K (UBE2K)
    cl00154
    Location:680
    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_001312647.1NP_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:151
    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:6097
    UBA_like_SF; UBA domain-like superfamily
  5. NM_001312648.1NP_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:151
    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:6097
    UBA_like_SF; UBA domain-like superfamily
  6. NM_005339.5NP_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
    P61086
    Related
    ENSP00000261427.5, ENST00000261427.9
    Conserved Domains (2) summary
    cd00195
    Location:6149
    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:163200
    UBA_II_E2_UBE2K; UBA domain of vertebrate ubiquitin-conjugating enzyme E2 K (UBE2K)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

    Range
    39698044..39782792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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