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Aliases for UBR5 Gene

Aliases for UBR5 Gene

  • Ubiquitin Protein Ligase E3 Component N-Recognin 5 2 3 5
  • E3 Ubiquitin-Protein Ligase, HECT Domain-Containing 1 3 4
  • HECT-Type E3 Ubiquitin Transferase UBR5 3 4
  • Hyperplastic Discs Protein Homolog 3 4
  • E3 Ubiquitin-Protein Ligase UBR5 3 4
  • Progestin-Induced Protein 3 4
  • EDD1 3 4
  • EDD 3 4
  • HYD 3 4
  • E3 Ubiquitin Protein Ligase, HECT Domain Containing, 1 2
  • E3 Identified By Differential Display 3
  • EC 2.3.2.26 4
  • KIAA0896 4
  • EC 6.3.2 56
  • HHYD 4
  • DD5 3

External Ids for UBR5 Gene

Previous HGNC Symbols for UBR5 Gene

  • EDD1

Previous GeneCards Identifiers for UBR5 Gene

  • GC08M103336
  • GC08M103265
  • GC08M098464

Summaries for UBR5 Gene

Entrez Gene Summary for UBR5 Gene

  • This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]

GeneCards Summary for UBR5 Gene

UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5) is a Protein Coding gene. Diseases associated with UBR5 include Brachydactyly, Type E2 and Brachydactyly, Type E1. Among its related pathways are Mesodermal Commitment Pathway and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and ubiquitin-protein transferase activity. An important paralog of this gene is HECTD4.

UniProtKB/Swiss-Prot for UBR5 Gene

  • E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes.

Gene Wiki entry for UBR5 Gene

Additional gene information for UBR5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UBR5 Gene

Genomics for UBR5 Gene

GeneHancer (GH) Regulatory Elements for UBR5 Gene

Promoters and enhancers for UBR5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J102407 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 611.6 +1.8 1760 6.2 SP1 ZFX CC2D1A ELF3 MNT ZNF148 NKRF POLR2A MLLT1 CTCF UBR5 LOC105375683 ENSG00000272037 RRM2B UBR5-AS1
GH08J102859 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.4 -450.5 -450538 6.6 MTA3 SP1 ZFX ELF3 MNT NKRF POLR2A MLLT1 ZNF121 GTF2F1 AZIN1-AS1 PIR36968 AZIN1 UBR5 ENSG00000272037 GASAL1 ENSG00000253385
GH08J102803 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 42.4 -395.0 -395024 7.6 HDGF MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 CTCF MNT CBFA2T2 UBR5 ENSG00000272037 KLF10 FZD6 SLC25A32 DCAF13 GASAL1 AZIN1 ENSG00000253385
GH08J102235 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26.9 +174.4 174370 4.8 SP1 ZFX ELF3 ZNF148 NKRF POLR2A MLLT1 ZNF121 CEBPG GTF2F1 RRM2B UBR5-AS1 UBR5 ENSG00000272037 KLF10 ENSG00000254492
GH08J102650 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21 -242.4 -242407 9.3 MTA3 ZFX SP1 CC2D1A ELF3 CTCF MNT ZNF148 NKRF POLR2A KLF10 ENSG00000283959 LOC101927245 UBR5 FZD6 ENSG00000253633 RNU6-1224P ATP6V1C1 AZIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UBR5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UBR5 gene promoter:
  • CREB
  • CUTL1
  • deltaCREB
  • FOXO4
  • GATA-1
  • IRF-2
  • N-Myc
  • Pax-4a
  • POU6F1 (c2)

Genomic Locations for UBR5 Gene

Genomic Locations for UBR5 Gene
chr8:102,252,273-102,412,759
(GRCh38/hg38)
Size:
160,487 bases
Orientation:
Minus strand
chr8:103,264,501-103,425,069
(GRCh37/hg19)
Size:
160,569 bases
Orientation:
Minus strand

Genomic View for UBR5 Gene

Genes around UBR5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UBR5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UBR5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UBR5 Gene

Proteins for UBR5 Gene

  • Protein details for UBR5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95071-UBR5_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase UBR5
    Protein Accession:
    O95071
    Secondary Accessions:
    • B2RP24
    • J3KMW7
    • O94970
    • Q9NPL3

    Protein attributes for UBR5 Gene

    Size:
    2799 amino acids
    Molecular mass:
    309352 Da
    Quaternary structure:
    • Binds TOPBP1. Associates with CDK9 and TFIIS/TCEA1 and forms a transcription regulatory complex made of CDK9, RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by recruiting their promoters. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and DCAF1 proteins (EDVP complex). Interacts directly with DYRK2. Interacts with PIH1D1 (PubMed:24656813).
    • (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ; this interaction modulates HBZ stability.
    Miscellaneous:
    • A cysteine residue is required for ubiquitin-thioester formation.
    SequenceCaution:
    • Sequence=BAA74919.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UBR5 Gene

    Alternative splice isoforms for UBR5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UBR5 Gene

Selected DME Specific Peptides for UBR5 Gene

O95071:
  • PGKRGFYTPR
  • ERQDLVYFWT
  • LPASEEGFQP
  • RVKVTFKDEPGEGSGVARSFYT
  • PHLLQPN
  • HLPTANTCISRLY

Post-translational modifications for UBR5 Gene

  • Ubiquitination at posLast=672672, posLast=200200, isoforms=2761, posLast=337337, isoforms=21109, isoforms=21340, posLast=720720, isoforms=21305, and isoforms=22320
  • Modification sites at PhosphoSitePlus

Domains & Families for UBR5 Gene

Gene Families for UBR5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for UBR5 Gene

GenScript: Design optimal peptide antigens:
  • UBR5 protein (Q49A65_HUMAN)
  • Progestin-induced protein (UBR5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UBR5: view

No data available for UniProtKB/Swiss-Prot for UBR5 Gene

Function for UBR5 Gene

Molecular function for UBR5 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26;.

Enzyme Numbers (IUBMB) for UBR5 Gene

Phenotypes From GWAS Catalog for UBR5 Gene

Gene Ontology (GO) - Molecular Function for UBR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 12011095
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with UBR5: view
genes like me logo Genes that share phenotypes with UBR5: view

Animal Models for UBR5 Gene

MGI Knock Outs for UBR5:
  • Ubr5 Ubr5<tm1Ckww>

Animal Model Products

  • Taconic Biosciences Mouse Models for UBR5

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for UBR5 - Now 50% OFF >
  • * UBR5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UBR5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for UBR5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UBR5 Gene

Localization for UBR5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UBR5 Gene

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 UBR5 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UBR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IBA 12011095
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA 19946888
GO:0032991 protein-containing complex IDA 18076571
genes like me logo Genes that share ontologies with UBR5: view

Pathways & Interactions for UBR5 Gene

genes like me logo Genes that share pathways with UBR5: view

Pathways by source for UBR5 Gene

UniProtKB/Swiss-Prot O95071-UBR5_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UBR5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UBR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 21118991
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IDA,IMP 22884692
GO:0010628 positive regulation of gene expression IDA 18076571
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with UBR5: view

Drugs & Compounds for UBR5 Gene

(3) Drugs for UBR5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for UBR5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UBR5: view

Transcripts for UBR5 Gene

mRNA/cDNA for UBR5 Gene

Unigene Clusters for UBR5 Gene

Ubiquitin protein ligase E3 component n-recognin 5:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for UBR5 - Now 50% OFF >
  • * UBR5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UBR5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for UBR5

Alternative Splicing Database (ASD) splice patterns (SP) for UBR5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 52a · 52b · 52c ^ 53 ^ 54a · 54b ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b · 60c
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for UBR5 Gene

GeneLoc Exon Structure for
UBR5
ECgene alternative splicing isoforms for
UBR5

Expression for UBR5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UBR5 Gene

Protein differential expression in normal tissues from HIPED for UBR5 Gene

This gene is overexpressed in Lung (15.1), Blymphocyte (7.7), and Peripheral blood mononuclear cells (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UBR5 Gene



Protein tissue co-expression partners for UBR5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UBR5 Gene:

UBR5

SOURCE GeneReport for Unigene cluster for UBR5 Gene:

Hs.492445

mRNA Expression by UniProt/SwissProt for UBR5 Gene:

O95071-UBR5_HUMAN
Tissue specificity: Widely expressed. Most abundant in testis and expressed at high levels in brain, pituitary and kidney.

Evidence on tissue expression from TISSUES for UBR5 Gene

  • Nervous system(4.8)
  • Heart(4.6)
  • Liver(4.3)
  • Muscle(2.4)
  • Lung(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with UBR5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for UBR5 Gene

Orthologs for UBR5 Gene

This gene was present in the common ancestor of animals.

Orthologs for UBR5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UBR5 35 34
  • 99.81 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBR5 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBR5 35 34
  • 95.22 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UBR5 35 34
  • 94.04 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBR5 35
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubr5 17 35 34
  • 90.52 (n)
chicken
(Gallus gallus)
Aves UBR5 35 34
  • 84.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBR5 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ubr5 34
  • 81.03 (n)
Str.3331 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.8606 34
zebrafish
(Danio rerio)
Actinopterygii ubr5 35 34
  • 74.62 (n)
OneToOne
wufa16c12 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001780 34
  • 51.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta hyd 35 34
  • 50.2 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F36A2.13 35
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5323 35
  • 49 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
Species where no ortholog for UBR5 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)

Evolution for UBR5 Gene

ENSEMBL:
Gene Tree for UBR5 (if available)
TreeFam:
Gene Tree for UBR5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UBR5: view image

Paralogs for UBR5 Gene

(5) SIMAP similar genes for UBR5 Gene using alignment to 9 proteins:

  • UBR5_HUMAN
  • E5RFK7_HUMAN
  • E7EMW7_HUMAN
  • E7ET84_HUMAN
  • H0YAV7_HUMAN
  • H0YBB4_HUMAN
  • J3KMW7_HUMAN
  • L8E894_HUMAN
  • Q49A65_HUMAN
genes like me logo Genes that share paralogs with UBR5: view

Variants for UBR5 Gene

Sequence variations from dbSNP and Humsavar for UBR5 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs754562275 uncertain-significance, Long QT syndrome 102,300,141(-) G/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs755753791 uncertain-significance, Long QT syndrome 102,295,696(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs796052149 uncertain-significance, Long QT syndrome 102,281,379(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000017045 -- 102,388,318(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000027247 -- 102,297,360(-) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for UBR5 Gene

Variant ID Type Subtype PubMed ID
dgv1299e199 CNV deletion 23128226
esv25807 CNV loss 19812545
esv2761454 CNV loss 21179565
esv33118 CNV loss 17666407
esv3576598 CNV gain 25503493
esv3576599 CNV gain 25503493
esv3618218 CNV gain 21293372
esv3618220 CNV loss 21293372
esv3618221 CNV loss 21293372
nsv1020359 CNV gain 25217958
nsv1023938 CNV gain 25217958
nsv1025935 CNV gain 25217958
nsv1075157 CNV deletion 25765185
nsv1148870 CNV duplication 26484159
nsv475459 CNV novel sequence insertion 20440878
nsv475922 CNV novel sequence insertion 20440878
nsv479870 CNV novel sequence insertion 20440878
nsv528486 CNV loss 19592680
nsv611821 CNV loss 21841781
nsv6335 CNV insertion 18451855
nsv831412 CNV gain 17160897

Variation tolerance for UBR5 Gene

Residual Variation Intolerance Score: 0.181% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.85; 34.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UBR5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UBR5
Human Gene Mutation Database (HGMD)
UBR5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UBR5 Gene

Disorders for UBR5 Gene

MalaCards: The human disease database

(6) MalaCards diseases for UBR5 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
brachydactyly, type e2
  • bde2
brachydactyly, type e1
  • bde1
scheie syndrome
  • hurler syndrome
echinococcosis
  • echinococcal disease
aortic valve insufficiency
  • aortic incompetence
- elite association - COSMIC cancer census association via MalaCards
Search UBR5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UBR5

genes like me logo Genes that share disorders with UBR5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UBR5 Gene

Publications for UBR5 Gene

  1. Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. (PMID: 10030672) Callaghan MJ … Watts CK (Oncogene 1998) 2 3 4 23 58
  2. X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein. (PMID: 11287654) Deo RC … Burley SK (Proceedings of the National Academy of Sciences of the United States of America 2001) 3 4 23 58
  3. TRIP12 and UBR5 suppress spreading of chromatin ubiquitylation at damaged chromosomes. (PMID: 22884692) Gudjonsson T … Lukas C (Cell 2012) 3 4 58
  4. Acetylation regulates gluconeogenesis by promoting PEPCK1 degradation via recruiting the UBR5 ubiquitin ligase. (PMID: 21726808) Jiang W … Zhao S (Molecular cell 2011) 3 4 58
  5. Transcription factor IIS cooperates with the E3 ligase UBR5 to ubiquitinate the CDK9 subunit of the positive transcription elongation factor B. (PMID: 21127351) Cojocaru M … Coulombe B (The Journal of biological chemistry 2011) 3 4 58

Products for UBR5 Gene

Sources for UBR5 Gene

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