Human Gene UBE2K (uc003guu.4) Description and Page Index
  Description: Homo sapiens ubiquitin-conjugating enzyme E2K (UBE2K), transcript variant 1, mRNA.
RefSeq Summary (NM_005339): 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].
Transcript (Including UTRs)
   Position: hg19 chr4:39,699,664-39,784,410 Size: 84,747 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr4:39,699,948-39,780,054 Size: 80,107 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:39,699,664-39,784,410)mRNA (may differ from genome)Protein (200 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: UBE2K_HUMAN
DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 K; EC=6.3.2.19; AltName: Full=Huntingtin-interacting protein 2; Short=HIP-2; AltName: Full=Ubiquitin carrier protein; AltName: Full=Ubiquitin-conjugating enzyme E2-25 kDa; Short=Ubiquitin-conjugating enzyme E2(25K); Short=Ubiquitin-conjugating enzyme E2-25K; AltName: Full=Ubiquitin-protein ligase;
FUNCTION: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro, in the presence or in the absence of BRCA1-BARD1 E3 ubiquitin-protein ligase complex, catalyzes the synthesis of 'Lys-48'-linked polyubiquitin chains. Does not transfer ubiquitin directly to but elongates monoubiquitinated substrate protein. Mediates the selective degradation of short-lived and abnormal proteins, such as the endoplasmic reticulum-associated degradation (ERAD) of misfolded lumenal proteins. Ubiquitinates huntingtin. May mediate foam cell formation by the suppression of apoptosis of lipid-bearing macrophages through ubiquitination and subsequence degradation of p53/TP53. Proposed to be involved in ubiquitination and proteolytic processing of NF-kappa-B; in vitro supports ubiquitination of NFKB1. In case of infection by cytomegaloviruses may be involved in the US11-dependent degradation of MHC class I heavy chains following their export from the ER to the cytosol. In case of viral infections may be involved in the HPV E7 protein- dependent degradation of RB1.
CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine.
PATHWAY: Protein modification; protein ubiquitination.
SUBUNIT: Interacts with RNF138/NARF. Interacts with BRCA1.
SUBCELLULAR LOCATION: Cytoplasm (By similarity).
TISSUE SPECIFICITY: Expressed in all tissues tested, including spleen, thymus, prostate, testis, ovary, small intestine, colon, peripheral blood leukocytes, T-lymphocytes, monocytes, granulocytes and bone marrow mononuclear cells. Highly expressed in brain, with highest levels found in cortex and striatum and at lower levels in cerebellum and brainstem.
INDUCTION: By aggregated low-density lipoprotein.
PTM: Sumoylation at Lys-14 impairs catalytic activity (By similarity).
SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
SIMILARITY: Contains 1 UBA domain.

-  MalaCards Disease Associations
  MalaCards Gene Search: UBE2K
Diseases sorted by gene-association score: huntington disease (6), autistic disorder (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.50 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 692.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -134.90284-0.475 Picture PostScript Text
3' UTR -1115.054356-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009060 - UBA-like
IPR000449 - UBA/transl_elong_EF1B_N
IPR015940 - UBA/transl_elong_EF1B_N_euk
IPR000608 - UBQ-conjugat_E2
IPR023313 - UBQ-conjugating_AS
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF00179 - Ubiquitin-conjugating enzyme
PF00627 - UBA/TS-N domain
PF14461 - Prokaryotic E2 family B

SCOP Domains:
46934 - UBA-like
54495 - UBC-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1YLA
- X-ray MuPIT

2O25
- X-ray MuPIT

3E46
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
3F92 - X-ray MuPIT 3K9O - X-ray MuPIT 3K9P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P61086
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0031625 ubiquitin protein ligase binding
GO:0034450 ubiquitin-ubiquitin ligase activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0010800 positive regulation of peptidyl-threonine phosphorylation
GO:0010994 free ubiquitin chain polymerization
GO:0016567 protein ubiquitination
GO:0032434 regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0035458 cellular response to interferon-beta
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0060340 positive regulation of type I interferon-mediated signaling pathway
GO:0070059 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0070936 protein K48-linked ubiquitination

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032433 filopodium tip


-  Descriptions from all associated GenBank mRNAs
  JA482240 - Sequence 223 from Patent WO2011072091.
JA482241 - Sequence 224 from Patent WO2011072091.
JA482242 - Sequence 225 from Patent WO2011072091.
JE980532 - Sequence 223 from Patent EP2862929.
JE980533 - Sequence 224 from Patent EP2862929.
JE980534 - Sequence 225 from Patent EP2862929.
AK295846 - Homo sapiens cDNA FLJ57995 complete cds, moderately similar to Ubiquitin-conjugating enzyme E2-25 kDa (EC 6.3.2.19).
AK315524 - Homo sapiens cDNA, FLJ96590, Homo sapiens huntingtin interacting protein 2 (HIP2), mRNA.
AK291454 - Homo sapiens cDNA FLJ77142 complete cds, highly similar to Homo sapiens LIG mRNA for E2 ubiquitin-conjugating enzyme alternative splicing form.
AK307130 - Homo sapiens cDNA, FLJ97078.
AK093533 - Homo sapiens cDNA FLJ36214 fis, clone THYMU2000672, highly similar to Ubiquitin-conjugating enzyme E2-25 kDa (EC 6.3.2.19).
BC022804 - Homo sapiens ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast), mRNA (cDNA clone MGC:39129 IMAGE:4893778), complete cds.
BC050600 - Homo sapiens ubiquitin-conjugating enzyme E2K (UBC1 homolog, yeast), mRNA (cDNA clone MGC:60046 IMAGE:6502901), complete cds.
AB022435 - Homo sapiens LIG mRNA for E2 ubiquitin-conjugating enzyme, complete cds.
AB022436 - Homo sapiens LIG mRNA for E2 ubiquitin-conjugating enzyme alternative splicing form, complete cds.
U58522 - Human huntingtin interacting protein (HIP2) mRNA, complete cds.
CU690732 - Synthetic construct Homo sapiens gateway clone IMAGE:100021315 5' read HIP2 mRNA.
AB527742 - Synthetic construct DNA, clone: pF1KB7927, Homo sapiens UBE2K gene for ubiquitin-conjugating enzyme E2K, without stop codon, in Flexi system.
EU446896 - Synthetic construct Homo sapiens clone IMAGE:100069886; IMAGE:100012105; FLH257039.01L huntingtin interacting protein 2 (HIP2) gene, encodes complete protein.
KJ891343 - Synthetic construct Homo sapiens clone ccsbBroadEn_00737 UBE2K gene, encodes complete protein.
JD056625 - Sequence 37649 from Patent EP1572962.
JD442383 - Sequence 423407 from Patent EP1572962.
JD491677 - Sequence 472701 from Patent EP1572962.
JD160577 - Sequence 141601 from Patent EP1572962.
JD243527 - Sequence 224551 from Patent EP1572962.
JD440385 - Sequence 421409 from Patent EP1572962.
JD435671 - Sequence 416695 from Patent EP1572962.
JD559721 - Sequence 540745 from Patent EP1572962.
JD327448 - Sequence 308472 from Patent EP1572962.
JD357081 - Sequence 338105 from Patent EP1572962.
JD058717 - Sequence 39741 from Patent EP1572962.
JD552042 - Sequence 533066 from Patent EP1572962.
BX641089 - Homo sapiens mRNA; cDNA DKFZp686J24237 (from clone DKFZp686J24237).
JD022677 - Sequence 3701 from Patent EP1572962.
JD031452 - Sequence 12476 from Patent EP1572962.
JD031604 - Sequence 12628 from Patent EP1572962.
AL117568 - Homo sapiens mRNA; cDNA DKFZp564C1216 (from clone DKFZp564C1216).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04120 - Ubiquitin mediated proteolysis

Reactome (by CSHL, EBI, and GO)

Protein P61086 (Reactome details) participates in the following event(s):

R-HSA-8852129 UBA1 conjugates ubiquitin to cytosolic E2 enzymes
R-HSA-983152 Transfer of ubiquitin from E1 to E2
R-HSA-983140 Transfer of Ub from E2 to substrate and release of E2
R-HSA-983157 Interaction of E3 with substrate and E2-Ub complex
R-HSA-8866652 Synthesis of active ubiquitin: roles of E1 and E2 enzymes
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-8852135 Protein ubiquitination
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-597592 Post-translational protein modification
R-HSA-168249 Innate Immune System
R-HSA-1280218 Adaptive Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJC1, A8K5Y9, B2RDF8, HIP2, LIG, NM_005339, NP_005330, O54806, P27924, P61086, Q16721, Q9CVV9, Q9Y2D3, UBE2K_HUMAN
UCSC ID: uc003guu.4
RefSeq Accession: NM_005339
Protein: P61086 (aka UBE2K_HUMAN)
CCDS: CCDS33976.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005339.4
exon count: 7CDS single in 3' UTR: no RNA size: 5259
ORF size: 603CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1271.00frame shift in genome: no % Coverage: 99.70
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.