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Aliases for UBE2T Gene

Aliases for UBE2T Gene

  • Ubiquitin Conjugating Enzyme E2 T 2 3 5
  • Cell Proliferation-Inducing Gene 50 Protein 3 4
  • E2 Ubiquitin-Conjugating Enzyme T 3 4
  • Ubiquitin Carrier Protein T 3 4
  • Ubiquitin-Protein Ligase T 3 4
  • HSPC150 Protein Similar To Ubiquitin-Conjugating Enzyme 3
  • Ubiquitin-Conjugating Enzyme E2T (Putative) 3
  • Ubiquitin-Conjugating Enzyme E2 T 3
  • Ubiquitin-Conjugating Enzyme E2T 2
  • Ubiquitin Conjugating Enzyme E2T 3
  • EC 2.3.2.23 4
  • HSPC150 3
  • FANCT 3
  • PIG50 3

External Ids for UBE2T Gene

Previous GeneCards Identifiers for UBE2T Gene

  • GC01M199033
  • GC01M200567
  • GC01M173466

Summaries for UBE2T Gene

Entrez Gene Summary for UBE2T Gene

  • The protein encoded by this gene catalyzes the covalent attachment of ubiquitin to protein substrates. Defects in this gene have been associated with Fanconi anemia of complementation group T. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

GeneCards Summary for UBE2T Gene

UBE2T (Ubiquitin Conjugating Enzyme E2 T) is a Protein Coding gene. Diseases associated with UBE2T include Fanconi Anemia, Complementation Group T and Ube2t-Related Fanconi Anemia. Among its related pathways are Fanconi anemia pathway and Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include chromatin binding and ubiquitin-protein transferase activity. An important paralog of this gene is UBE2N.

UniProtKB/Swiss-Prot for UBE2T Gene

  • Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair: acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCL and FANCI. May contribute to ubiquitination and degradation of BRCA1. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer Lys-11-, Lys-27-, Lys-48- and Lys-63-linked polyubiquitination.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBE2T Gene

Genomics for UBE2T Gene

Regulatory Elements for UBE2T Gene

Enhancers for UBE2T Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G203169 1.5 Ensembl ENCODE dbSUPER 4.7 -832.3 -832322 9.6 PKNOX1 YBX1 GLIS2 ZNF143 FOS DEK SP5 JUNB REST SMARCA4 ADORA1 ENSG00000224671 FMOD LOC100131747 UBE2T CHI3L1 MYBPH
GH01G202247 0.9 FANTOM5 dbSUPER 1.9 +94.0 94004 0.2 NR2F1 HLF CEBPG NFIL3 ZFHX2 EGR1 SCRT2 GLIS1 LGR6 UBE2T LOC101929388 GC01P202274
GH01G202343 1.1 Ensembl ENCODE 0.7 -1.8 -1832 0.4 HDGF ARNT YBX1 ZBTB40 RAD21 RFX5 ZNF366 ZNF143 RELB SMARCA5 UBE2T PPP1R12B
GH01G202340 1.1 ENCODE 0.7 +0.2 199 2.4 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000224818 IPO9-AS1 ENSG00000235121 IPO9 UBE2T PIR35986 GC01P202320
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UBE2T on UCSC Golden Path with GeneCards custom track

Promoters for UBE2T Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018281 180 1601 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for UBE2T Gene

Chromosome:
1
Start:
202,331,657 bp from pter
End:
202,341,980 bp from pter
Size:
10,324 bases
Orientation:
Minus strand

Genomic View for UBE2T Gene

Genes around UBE2T on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBE2T Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBE2T Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBE2T Gene

Proteins for UBE2T Gene

  • Protein details for UBE2T Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPD8-UBE2T_HUMAN
    Recommended name:
    Ubiquitin-conjugating enzyme E2 T
    Protein Accession:
    Q9NPD8
    Secondary Accessions:
    • Q2TU36

    Protein attributes for UBE2T Gene

    Size:
    197 amino acids
    Molecular mass:
    22521 Da
    Quaternary structure:
    • Interacts with FANCL and BRCA1.

    Three dimensional structures from OCA and Proteopedia for UBE2T Gene

neXtProt entry for UBE2T Gene

Post-translational modifications for UBE2T Gene

  • Auto-ubiquitinated. Effects of auto-monoubiquitination at Lys-91 and Lys-182 are unclear: according to a report, monoubiquitination inactivates E2 enzyme activity (PubMed:16916645). In contrast, according to another report, autoubiquitination does not affect E2 enzyme activity (PubMed:19111657).
  • Ubiquitination at Lys48, Lys91, and posLast=182182
  • Modification sites at PhosphoSitePlus

Other Protein References for UBE2T Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBE2T (UBE2T)
  • Abcam antibodies for UBE2T
  • Santa Cruz Biotechnology (SCBT) Antibodies for UBE2T

No data available for DME Specific Peptides for UBE2T Gene

Domains & Families for UBE2T Gene

Suggested Antigen Peptide Sequences for UBE2T Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NPD8

UniProtKB/Swiss-Prot:

UBE2T_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 UBE2T: view

Function for UBE2T Gene

Molecular function for UBE2T Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.
UniProtKB/Swiss-Prot Function:
Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. Catalyzes monoubiquitination. Involved in mitomycin-C (MMC)-induced DNA repair: acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCL and FANCI. May contribute to ubiquitination and degradation of BRCA1. In vitro able to promote polyubiquitination using all 7 ubiquitin Lys residues, but may prefer Lys-11-, Lys-27-, Lys-48- and Lys-63-linked polyubiquitination.
UniProtKB/Swiss-Prot Induction:
Down-regulated following hypoxia. Up-regulated in breast cancers.

Enzyme Numbers (IUBMB) for UBE2T Gene

Gene Ontology (GO) - Molecular Function for UBE2T Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 17938197
GO:0004842 ubiquitin-protein transferase activity IDA 16916645
GO:0005524 ATP binding IEA --
GO:0016740 transferase activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16916645
genes like me logo Genes that share ontologies with UBE2T: view
genes like me logo Genes that share phenotypes with UBE2T: view

Human Phenotype Ontology for UBE2T Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for UBE2T

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBE2T

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for UBE2T Gene

Localization for UBE2T Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBE2T Gene

Nucleus. Note=Accumulates to chromatin.

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 UBE2T gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for UBE2T Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 17938197
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IBA --
genes like me logo Genes that share ontologies with UBE2T: view

Pathways & Interactions for UBE2T Gene

genes like me logo Genes that share pathways with UBE2T: view

Pathways by source for UBE2T Gene

1 Cell Signaling Technology pathway for UBE2T Gene
2 BioSystems pathways for UBE2T Gene
1 KEGG pathway for UBE2T Gene
1 R&D Systems pathway for UBE2T Gene

UniProtKB/Swiss-Prot Q9NPD8-UBE2T_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for UBE2T Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IMP 16916645
GO:0006513 protein monoubiquitination IDA 16916645
GO:0006974 cellular response to DNA damage stimulus IMP 16916645
GO:0016567 protein ubiquitination TAS --
GO:0035519 protein K29-linked ubiquitination IDA 20061386
genes like me logo Genes that share ontologies with UBE2T: view

No data available for SIGNOR curated interactions for UBE2T Gene

Drugs & Compounds for UBE2T Gene

(2) Drugs for UBE2T Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for UBE2T Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with UBE2T: view

Transcripts for UBE2T Gene

Unigene Clusters for UBE2T Gene

Ubiquitin-conjugating enzyme E2T (putative):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UBE2T

Alternative Splicing Database (ASD) splice patterns (SP) for UBE2T Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for UBE2T Gene

GeneLoc Exon Structure for
UBE2T
ECgene alternative splicing isoforms for
UBE2T

Expression for UBE2T Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBE2T Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UBE2T Gene

This gene is overexpressed in Liver, secretome (46.3) and Fetal ovary (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UBE2T Gene



Protein tissue co-expression partners for UBE2T Gene

NURSA nuclear receptor signaling pathways regulating expression of UBE2T Gene:

UBE2T

SOURCE GeneReport for Unigene cluster for UBE2T Gene:

Hs.5199

Evidence on tissue expression from TISSUES for UBE2T Gene

  • Blood(4.3)
  • Lung(4.2)
  • Adrenal gland(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UBE2T Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with UBE2T: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UBE2T Gene

Orthologs for UBE2T Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UBE2T Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBE2T 34 35
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia UBE2T 34 35
  • 90.52 (n)
mouse
(Mus musculus)
Mammalia Ube2t 34 16 35
  • 84.18 (n)
rat
(Rattus norvegicus)
Mammalia Ube2t 34
  • 83.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UBE2T 35
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UBE2T 34 35
  • 80.51 (n)
oppossum
(Monodelphis domestica)
Mammalia UBE2T 35
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBE2T 34 35
  • 68.74 (n)
lizard
(Anolis carolinensis)
Reptilia UBE2T 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ube2t 34
  • 69.44 (n)
Str.3516 34
African clawed frog
(Xenopus laevis)
Amphibia hspc150-prov 34
zebrafish
(Danio rerio)
Actinopterygii ube2t 34 35
  • 71.76 (n)
wufj86h11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10911 34
fruit fly
(Drosophila melanogaster)
Insecta ben 35
  • 48 (a)
OneToMany
CG3473 35
  • 46 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBC13 35
  • 44 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os01g0605300 34
  • 60.27 (n)
Os.23694 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3070 35
  • 49 (a)
OneToOne
Species where no ortholog for UBE2T was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for UBE2T Gene

ENSEMBL:
Gene Tree for UBE2T (if available)
TreeFam:
Gene Tree for UBE2T (if available)

Paralogs for UBE2T Gene

Paralogs for UBE2T Gene

(21) SIMAP similar genes for UBE2T Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with UBE2T: view

Variants for UBE2T Gene

Sequence variations from dbSNP and Humsavar for UBE2T Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs774357609 Pathogenic, Fanconi anemia complementation group T (FANCT) [MIM:616435] 202,335,751(+) TCTCT(C/G)CATGA reference, missense, utr-variant-5-prime
rs796052212 Pathogenic 202,334,984(-) GGTTA(A/G)TATGA intron-variant
rs1000418710 -- 202,334,189(+) TACAA(A/C)TGTAA intron-variant
rs1000474381 -- 202,334,489(+) TTACC(G/T)ATATA intron-variant
rs1000571613 -- 202,339,797(+) CACTT(C/T)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UBE2T Gene

Variant ID Type Subtype PubMed ID
esv2721572 CNV deletion 23290073
esv3578378 CNV loss 25503493
esv3588581 CNV loss 21293372

Variation tolerance for UBE2T Gene

Residual Variation Intolerance Score: 56.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.71; 15.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UBE2T Gene

Human Gene Mutation Database (HGMD)
UBE2T
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBE2T

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBE2T Gene

Disorders for UBE2T Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBE2T Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group t
  • fanconi anemia complementation group t
ube2t-related fanconi anemia
  • fanct
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search UBE2T in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UBE2T_HUMAN
  • Fanconi anemia complementation group T (FANCT) [MIM:616435]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:26046368}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UBE2T

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UBE2T
genes like me logo Genes that share disorders with UBE2T: view

No data available for Genatlas for UBE2T Gene

Publications for UBE2T Gene

  1. Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. (PMID: 26046368) Hira A. … Yabe M. (Am. J. Hum. Genet. 2015) 2 3 4 64
  2. Ubiquitination and downregulation of BRCA1 by ubiquitin-conjugating enzyme E2T overexpression in human breast cancer cells. (PMID: 19887602) Ueki T. … Katagiri T. (Cancer Res. 2009) 3 4 22 64
  3. UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation. (PMID: 16916645) Machida Y.J. … Dutta A. (Mol. Cell 2006) 2 3 4 64
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 2 3 4 64
  5. Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. (PMID: 21722982) Ramaekers C.H. … Wouters B.G. (Radiother. Oncol. 2011) 3 4 64

Products for UBE2T Gene

  • Addgene plasmids for UBE2T

Sources for UBE2T Gene

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