Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the h... See more...

Aliases for UBE2V1 Gene

Aliases for UBE2V1 Gene

  • Ubiquitin Conjugating Enzyme E2 V1 2 3 5
  • Ubiquitin-Conjugating Enzyme E2 Variant 1 2 3 4
  • TRAF6-Regulated IKK Activator 1 Beta Uev1A 3 4
  • CROC-1 3 4
  • UBE2V 3 4
  • CROC1 3 4
  • UEV-1 3 4
  • UEV1 3 4
  • DNA-Binding Protein 3
  • UEV1A 3
  • CIR1 3

External Ids for UBE2V1 Gene

Previous HGNC Symbols for UBE2V1 Gene

  • UBE2V

Previous GeneCards Identifiers for UBE2V1 Gene

  • GC20M048426
  • GC20M049336
  • GC20M049383
  • GC20M048132
  • GC20M048698
  • GC20M045447

Summaries for UBE2V1 Gene

Entrez Gene Summary for UBE2V1 Gene

  • Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]

GeneCards Summary for UBE2V1 Gene

UBE2V1 (Ubiquitin Conjugating Enzyme E2 V1) is a Protein Coding gene. Diseases associated with UBE2V1 include Machado-Joseph Disease and Lidocaine Allergy. Among its related pathways are Class I MHC mediated antigen processing and presentation and Ubiquitin-Proteasome Dependent Proteolysis. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and ubiquitin protein ligase activity. An important paralog of this gene is TMEM189-UBE2V1.

UniProtKB/Swiss-Prot Summary for UBE2V1 Gene

  • Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. Together with RNF135 and UBE2N, catalyzes the viral RNA-dependent 'Lys-63'-linked polyubiquitination of RIG-I/DDX58 to activate the downstream signaling pathway that leads to interferon beta production (PubMed:31006531).

Gene Wiki entry for UBE2V1 Gene

Additional gene information for UBE2V1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UBE2V1 Gene

Genomics for UBE2V1 Gene

GeneHancer (GH) Regulatory Elements for UBE2V1 Gene

Promoters and enhancers for UBE2V1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBE2V1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UBE2V1

Top Transcription factor binding sites by QIAGEN in the UBE2V1 gene promoter:
  • NF-kappaB1

Genomic Locations for UBE2V1 Gene

Genomic Locations for UBE2V1 Gene
chr20:50,081,124-50,115,959
(GRCh38/hg38)
Size:
34,836 bases
Orientation:
Minus strand
chr20:48,697,661-48,732,496
(GRCh37/hg19)
Size:
34,836 bases
Orientation:
Minus strand

Genomic View for UBE2V1 Gene

Genes around UBE2V1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2V1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2V1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2V1 Gene

Proteins for UBE2V1 Gene

  • Protein details for UBE2V1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13404-UB2V1_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 variant 1
    Protein Accession:
    Q13404
    Secondary Accessions:
    • E1P629
    • Q13403
    • Q13532
    • Q5TGE0
    • Q5TGE3
    • Q96H34
    • Q9GZT0
    • Q9GZW1
    • Q9H4J3
    • Q9H4J4
    • Q9UKL1
    • Q9UM48
    • Q9UM49
    • Q9UM50

    Protein attributes for UBE2V1 Gene

    Size:
    147 amino acids
    Molecular mass:
    16495 Da
    Quaternary structure:
    • Heterodimer with UBE2N (PubMed:11057907, PubMed:16307917, PubMed:16893187). Interacts (UBE2V2-UBE2N heterodimer) with the E3 ligase STUB1 (via the U-box domain); the complex has a specific 'Lys-63'-linked polyubiquitination activity (PubMed:16307917). Interacts with TRAF6 (PubMed:11057907, PubMed:16307917).
    Miscellaneous:
    • In human, TMEM189/KUA and UBE2V1/UEV1 are adjacent genes which can produce independent proteins and can also be fused to form a TMEM189-UBE2V1 hybrid protein.
    SequenceCaution:
    • Sequence=AAH08944.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBE2V1 Gene

    Alternative splice isoforms for UBE2V1 Gene

neXtProt entry for UBE2V1 Gene

Post-translational modifications for UBE2V1 Gene

  • Ubiquitination at Lys10, Lys68, and Lys74
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for UBE2V1 Gene

Domains & Families for UBE2V1 Gene

Gene Families for UBE2V1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for UBE2V1 Gene

Blocks:
  • Ubiquitin-conjugating enzymes
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UBE2V1 Gene

GenScript: Design optimal peptide antigens:
  • TRAF6-regulated IKK activator 1 beta Uev1A (UB2V1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13404

UniProtKB/Swiss-Prot:

UB2V1_HUMAN :
  • Belongs to the ubiquitin-conjugating enzyme family.
Family:
  • Belongs to the ubiquitin-conjugating enzyme family.
genes like me logo Genes that share domains with UBE2V1: view

Function for UBE2V1 Gene

Molecular function for UBE2V1 Gene

UniProtKB/Swiss-Prot Function:
Has no ubiquitin ligase activity on its own. The UBE2V1-UBE2N heterodimer catalyzes the synthesis of non-canonical poly-ubiquitin chains that are linked through Lys-63. This type of poly-ubiquitination activates IKK and does not seem to involve protein degradation by the proteasome. Plays a role in the activation of NF-kappa-B mediated by IL1B, TNF, TRAF6 and TRAF2. Mediates transcriptional activation of target genes. Plays a role in the control of progress through the cell cycle and differentiation. Plays a role in the error-free DNA repair pathway and contributes to the survival of cells after DNA damage. Promotes TRIM5 capsid-specific restriction activity and the UBE2V1-UBE2N heterodimer acts in concert with TRIM5 to generate 'Lys-63'-linked polyubiquitin chains which activate the MAP3K7/TAK1 complex which in turn results in the induction and expression of NF-kappa-B and MAPK-responsive inflammatory genes. Together with RNF135 and UBE2N, catalyzes the viral RNA-dependent 'Lys-63'-linked polyubiquitination of RIG-I/DDX58 to activate the downstream signaling pathway that leads to interferon beta production (PubMed:31006531).
UniProtKB/Swiss-Prot Induction:
Down-regulated during differentiation of cultured colon adenocarcinoma cells.
GENATLAS Biochemistry:
ubiquitin conjugating enzyme E2 variant 1,expressed as at least four isoforms,transcriptional activator of FOS promoter,underexpressed in hormone refractory prostate cancer,potentially involved in the control of differentiation

Gene Ontology (GO) - Molecular Function for UBE2V1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16129784
GO:0061631 ubiquitin conjugating enzyme activity IBA 21873635
genes like me logo Genes that share ontologies with UBE2V1: view
genes like me logo Genes that share phenotypes with UBE2V1: view

Animal Model Products

CRISPR Products

miRNA for UBE2V1 Gene

miRTarBase miRNAs that target UBE2V1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2V1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UBE2V1 Gene

Localization for UBE2V1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2V1 Gene

Nucleus. Note=Excluded from the nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UBE2V1 gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 2
cytoskeleton 2
endosome 2
lysosome 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UBE2V1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 16307917
GO:0005634 nucleus TAS,IBA 9305758
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 16129784
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UBE2V1: view

Pathways & Interactions for UBE2V1 Gene

PathCards logo

SuperPathways for UBE2V1 Gene

SuperPathway Contained pathways
1 Activated TLR4 signalling
2 Diseases associated with the TLR signaling cascade
3 Class I MHC mediated antigen processing and presentation
4 IL-1 signaling pathway
5 CLEC7A (Dectin-1) signaling
genes like me logo Genes that share pathways with UBE2V1: view

Pathways by source for UBE2V1 Gene

2 GeneGo (Thomson Reuters) pathways for UBE2V1 Gene
  • Immune response IL-1 signaling pathway
  • Proteolysis_Putative ubiquitin pathway
1 R&D Systems pathway for UBE2V1 Gene
3 Qiagen pathways for UBE2V1 Gene
  • Remodeling of Adherens Junctions
  • Toll-Like Receptors Pathway
  • Ubiquitin-Proteasome Dependent Proteolysis

SIGNOR curated interactions for UBE2V1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for UBE2V1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity TAS --
GO:0000209 protein polyubiquitination TAS 10089880
GO:0006282 regulation of DNA repair TAS 10089880
GO:0006301 postreplication repair IBA 21873635
GO:0006355 regulation of transcription, DNA-templated TAS 9305758
genes like me logo Genes that share ontologies with UBE2V1: view

Drugs & Compounds for UBE2V1 Gene

(1) Drugs for UBE2V1 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NSC697923 Pharma Inhibitor of E2 complex Ubc13-Uev1A,cell permeable and selective, Selective UBE2N inhibitor 0

(1) ApexBio Compounds for UBE2V1 Gene

Compound Action Cas Number
NSC697923 Inhibitor of E2 complex Ubc13-Uev1A,cell permeable and selective 343351-67-7
genes like me logo Genes that share compounds with UBE2V1: view

Drug Products

Transcripts for UBE2V1 Gene

mRNA/cDNA for UBE2V1 Gene

17 REFSEQ mRNAs :
37 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UBE2V1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2V1 Gene

No ASD Table

Relevant External Links for UBE2V1 Gene

GeneLoc Exon Structure for
UBE2V1

Expression for UBE2V1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UBE2V1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBE2V1 Gene



Protein tissue co-expression partners for UBE2V1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UBE2V1

SOURCE GeneReport for Unigene cluster for UBE2V1 Gene:

Hs.420529

mRNA Expression by UniProt/SwissProt for UBE2V1 Gene:

Q13404-UB2V1_HUMAN
Tissue specificity: Highly expressed in thyroid, pancreas, spinal cord, lymph node, trachea, adrenal gland, bone marrow and pancreas. Detected at low levels in heart, breast, placenta, brain, liver, kidney, stomach and lung.

Evidence on tissue expression from TISSUES for UBE2V1 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Intestine(4.5)
  • Muscle(4.4)
  • Skin(4.2)
  • Blood(4)
  • Liver(4)
  • Pancreas(4)
  • Stomach(4)
  • Eye(3.9)
  • Kidney(3.6)
  • Heart(3.1)
  • Bone(2.8)
genes like me logo Genes that share expression patterns with UBE2V1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2V1 Gene

Orthologs for UBE2V1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2V1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE2V1 31 30
  • 100 (n)
OneToMany
-- 31
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia UBE2V1 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UBE2V1 31 30
  • 98.41 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gm8325 31
  • 88 (a)
OneToMany
Ube2v1 17 31 30
  • 87.07 (n)
Gm5830 31
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC679539 30
  • 87.3 (n)
chicken
(Gallus gallus)
Aves UBE2V1 31 30
  • 91.72 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBE2V1 31
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube2v1 30
  • 87.76 (n)
Str.6054 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15969 30
zebrafish
(Danio rerio)
Actinopterygii ube2v1 31 30
  • 74.6 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006937 30
  • 62.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta Uev1A 31 32 30
  • 59.31 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea uev-1 31 32 30
  • 60.58 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MMS2 31
  • 50 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os12g0605400 30
  • 55.48 (n)
Species where no ortholog for UBE2V1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UBE2V1 Gene

ENSEMBL:
Gene Tree for UBE2V1 (if available)
TreeFam:
Gene Tree for UBE2V1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBE2V1: view image

Paralogs for UBE2V1 Gene

Variants for UBE2V1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UBE2V1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
747277 Benign: not provided 50,082,792(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for UBE2V1 Gene

Structural Variations from Database of Genomic Variants (DGV) for UBE2V1 Gene

Variant ID Type Subtype PubMed ID
esv3646041 CNV loss 21293372
nsv1061982 CNV loss 25217958
nsv1078793 CNV insertion 25765185
nsv833999 CNV loss 17160897
nsv834000 CNV gain+loss 17160897
nsv964407 CNV duplication 23825009

Variation tolerance for UBE2V1 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBE2V1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2V1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2V1 Gene

Disorders for UBE2V1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for UBE2V1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
machado-joseph disease
  • mjd
lidocaine allergy
  • lidoderm allergy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UBE2V1

genes like me logo Genes that share disorders with UBE2V1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBE2V1 Gene

Publications for UBE2V1 Gene

  1. Activation of the IkappaB kinase complex by TRAF6 requires a dimeric ubiquitin-conjugating enzyme complex and a unique polyubiquitin chain. (PMID: 11057907) Deng L … Chen ZJ (Cell 2000) 3 4 23 54
  2. Fusion of the human gene for the polyubiquitination coeffector UEV1 with Kua, a newly identified gene. (PMID: 11076860) Thomson TM … Guigó R (Genome research 2000) 3 4 23 54
  3. Role of UEV-1, an inactive variant of the E2 ubiquitin-conjugating enzymes, in in vitro differentiation and cell cycle behavior of HT-29-M6 intestinal mucosecretory cells. (PMID: 9418904) Sancho E … Thomson TM (Molecular and cellular biology 1998) 2 3 4 54
  4. The products of the yeast MMS2 and two human homologs (hMMS2 and CROC-1) define a structurally and functionally conserved Ubc-like protein family. (PMID: 9705497) Xiao W … Wei YF (Nucleic acids research 1998) 3 4 23 54
  5. CROC-1 encodes a protein which mediates transcriptional activation of the human FOS promoter. (PMID: 9305758) Rothofsky ML … Lin SL (Gene 1997) 2 3 4 54

Products for UBE2V1 Gene

Sources for UBE2V1 Gene