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

Gene ID: 3093, updated on 3-May-2020

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
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (39698136..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 Functions

What'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

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
cell IEA
Inferred from Electronic Annotation
more info
 
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_001111112.2NP_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
    pfam00179
    Location:8133
    UQ_con; Ubiquitin-conjugating enzyme
    cl21463
    Location:132157
    UBA_like_SF; UBA domain-like superfamily
  2. NM_001111113.2NP_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_001312646.2NP_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
    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_001312647.2NP_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_001312648.2NP_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, ENST00000261427.10
    Conserved Domains (2) summary
    cd14390
    Location:163200
    UBA_II_E2_UBE2K; UBA domain of vertebrate ubiquitin-conjugating enzyme E2 K (UBE2K)
    pfam00179
    Location:8149
    UQ_con; Ubiquitin-conjugating enzyme

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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