Human Gene UBE2Z (uc002ioi.3) Description and Page Index
  Description: Homo sapiens ubiquitin-conjugating enzyme E2Z (UBE2Z), mRNA.
RefSeq Summary (NM_023079): This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC015890.1, SRR1163658.207730.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000360943.10/ ENSP00000354201.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr17:46,985,731-47,006,422 Size: 20,692 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr17:46,985,866-47,004,496 Size: 18,631 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDGene 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 (chr17:46,985,731-47,006,422)mRNA (may differ from genome)Protein (354 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Ubiquitin-conjugating enzyme E2 Z; EC=; AltName: Full=Uba6-specific E2 conjugating enzyme 1; Short=Use1; AltName: Full=Ubiquitin carrier protein Z; AltName: Full=Ubiquitin-protein ligase Z;
FUNCTION: Catalyzes the covalent attachment of ubiquitin to other proteins (By similarity). Specific substrate for UBA6, not charged with ubiquitin by UBE1. May be involved in apoptosis regulation.
CATALYTIC ACTIVITY: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine.
PATHWAY: Protein modification; protein ubiquitination.
TISSUE SPECIFICITY: Widely expressed. Highly in placenta, pancreas, spleen and testis.
SIMILARITY: Belongs to the ubiquitin-conjugating enzyme family.
SEQUENCE CAUTION: Sequence=AAH15890.1; Type=Erroneous initiation; Sequence=BAB14724.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): UBE2Z
CDC HuGE Published Literature: UBE2Z
Positive Disease Associations: Coronary Artery Disease
Related Studies:
  1. Coronary Artery Disease
    Heribert Schunkert et al. Nature genetics 2011, Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease., Nature genetics. [PubMed 21378990]

-  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: 45.82 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1189.90 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 -66.80135-0.495 Picture PostScript Text
3' UTR -691.201926-0.359 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
IPR000608 - UBQ-conjugat_E2
IPR016135 - UBQ-conjugating_enzyme/RWD

Pfam Domains:
PF00179 - Ubiquitin-conjugating enzyme

SCOP Domains:
54495 - UBC-like

ModBase Predicted Comparative 3D Structure on Q9H832
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 Protein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0031625 ubiquitin protein ligase binding
GO:0061630 ubiquitin protein ligase activity
GO:0061631 ubiquitin conjugating enzyme activity

Biological Process:
GO:0006511 ubiquitin-dependent protein catabolic process
GO:0006915 apoptotic process
GO:0016567 protein ubiquitination
GO:0043065 positive regulation of apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AK296865 - Homo sapiens cDNA FLJ56297 complete cds, highly similar to Rattus norvegicus ubiquitin-conjugating enzyme E2Z (putative) (Ube2z), mRNA.
AK130303 - Homo sapiens cDNA FLJ26793 fis, clone PRS04911.
AK122770 - Homo sapiens cDNA FLJ16310 fis, clone SMINT2005368, weakly similar to Homo sapiens ubiquitin-conjugating BIR-domain enzyme APOLLON mRNA.
AK024030 - Homo sapiens cDNA FLJ13968 fis, clone Y79AA1001493, weakly similar to UBIQUITIN-CONJUGATING ENZYME E2-17 KD 9 (EC
BC015890 - Homo sapiens ubiquitin-conjugating enzyme E2Z, mRNA (cDNA clone MGC:16842 IMAGE:3915698), complete cds.
EF623992 - Homo sapiens Uba6-specific E2 conjugating enzyme 1 mRNA, complete cds.
JD137906 - Sequence 118930 from Patent EP1572962.
JD472107 - Sequence 453131 from Patent EP1572962.
JD024558 - Sequence 5582 from Patent EP1572962.
JD028258 - Sequence 9282 from Patent EP1572962.
JD408600 - Sequence 389624 from Patent EP1572962.
JD484729 - Sequence 465753 from Patent EP1572962.
JD189870 - Sequence 170894 from Patent EP1572962.
CU677491 - Synthetic construct Homo sapiens gateway clone IMAGE:100016874 5' read UBE2Z mRNA.
KJ903123 - Synthetic construct Homo sapiens clone ccsbBroadEn_12517 UBE2Z gene, encodes complete protein.
CR457322 - Homo sapiens full open reading frame cDNA clone RZPDo834E109D for gene FLJ13855, hypothetical protein FLJ13855; complete cds, incl. stopcodon.
AB025426 - Homo sapiens mRNA for HOYS7, complete cds.
AK023917 - Homo sapiens cDNA FLJ13855 fis, clone THYRO1000983, weakly similar to UBIQUITIN-CONJUGATING ENZYME E2-17 KD 9 (EC
BC015169 - Homo sapiens ubiquitin-conjugating enzyme E2Z, mRNA (cDNA clone IMAGE:3898543), partial cds.
AK091644 - Homo sapiens cDNA FLJ34325 fis, clone FEBRA2008928, weakly similar to Homo sapiens ubiquitin-conjugating BIR-domain enzyme APOLLON mRNA.
AL713782 - Homo sapiens mRNA; cDNA DKFZp547L158 (from clone DKFZp547L158).
JD284419 - Sequence 265443 from Patent EP1572962.
JD116776 - Sequence 97800 from Patent EP1572962.
JD253289 - Sequence 234313 from Patent EP1572962.
JD260197 - Sequence 241221 from Patent EP1572962.
JD099618 - Sequence 80642 from Patent EP1572962.
DQ591377 - Homo sapiens piRNA piR-58489, complete sequence.
JD545107 - Sequence 526131 from Patent EP1572962.
JD220686 - Sequence 201710 from Patent EP1572962.
JD261681 - Sequence 242705 from Patent EP1572962.
JD108862 - Sequence 89886 from Patent EP1572962.
JD134087 - Sequence 115111 from Patent EP1572962.
JD531962 - Sequence 512986 from Patent EP1572962.
JD067783 - Sequence 48807 from Patent EP1572962.
JD100149 - Sequence 81173 from Patent EP1572962.
JD290075 - Sequence 271099 from Patent EP1572962.
JD397681 - Sequence 378705 from Patent EP1572962.
JD273269 - Sequence 254293 from Patent EP1572962.
JD219401 - Sequence 200425 from Patent EP1572962.
JD294655 - Sequence 275679 from Patent EP1572962.
JD220430 - Sequence 201454 from Patent EP1572962.
JD296920 - Sequence 277944 from Patent EP1572962.
JD287319 - Sequence 268343 from Patent EP1572962.
JD123711 - Sequence 104735 from Patent EP1572962.
JD205400 - Sequence 186424 from Patent EP1572962.
JD508188 - Sequence 489212 from Patent EP1572962.
JD221108 - Sequence 202132 from Patent EP1572962.
JD277039 - Sequence 258063 from Patent EP1572962.
JD464685 - Sequence 445709 from Patent EP1572962.
JD144083 - Sequence 125107 from Patent EP1572962.
JD117757 - Sequence 98781 from Patent EP1572962.
JD219400 - Sequence 200424 from Patent EP1572962.
JD276637 - Sequence 257661 from Patent EP1572962.
JD163677 - Sequence 144701 from Patent EP1572962.
JD396401 - Sequence 377425 from Patent EP1572962.
JD157692 - Sequence 138716 from Patent EP1572962.
JD519556 - Sequence 500580 from Patent EP1572962.
JD381888 - Sequence 362912 from Patent EP1572962.
JD047913 - Sequence 28937 from Patent EP1572962.
JD509897 - Sequence 490921 from Patent EP1572962.

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

Reactome (by CSHL, EBI, and GO)

Protein Q9H832 (Reactome details) participates in the following event(s):

R-HSA-8852127 UBA6 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-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-8852135 Protein ubiquitination
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-597592 Post-translational protein modification
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: A6N8M6, A6NC60, HOYS7, NM_023079, NP_075567, Q7L354, Q8TCM4, Q9H832, Q9H893, UBE2Z_HUMAN
UCSC ID: uc002ioi.3
RefSeq Accession: NM_023079
Protein: Q9H832 (aka UBE2Z_HUMAN)
CCDS: CCDS11540.2

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_023079.4
exon count: 7CDS single in 3' UTR: no RNA size: 3137
ORF size: 1065CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2063.00frame shift in genome: no % Coverage: 99.65
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.