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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 2 3
  • E3 Ubiquitin-Protein Ligase, HECT Domain-Containing 1 3 4
  • Hyperplastic Discs Protein Homolog 3 4
  • Progestin-Induced Protein 3 4
  • EDD1 3 4
  • EDD 3 4
  • HYD 3 4
  • E3 Identified By Differential Display 3
  • Progestin Induced Protein 3
  • Ubiquitin-Protein Ligase 3
  • EC 6.3.2.- 4
  • KIAA0896 4
  • EC 6.3.2 63
  • 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 Acneiform Dermatitis and Mucopolysaccharidosis Is. Among its related pathways are Antigen processing- Ubiquitination and Proteasome degradation and Tryptophan metabolism. GO annotations related to this gene include RNA binding and ubiquitin-protein transferase activity. An important paralog of this gene is HERC2.

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

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

Genomics for UBR5 Gene

Regulatory Elements for UBR5 Gene

Enhancers for UBR5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UBR5 on UCSC Golden Path with GeneCards custom track

Promoters for UBR5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UBR5 on UCSC Golden Path with GeneCards custom track

Genomic Location for UBR5 Gene

Chromosome:
8
Start:
102,252,273 bp from pter
End:
102,412,841 bp from pter
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 VPRBP proteins (EDVP complex). Interacts directly with DYRK2. Interacts with PIH1D1 (PubMed:24656813).
    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

Proteomics data for UBR5 Gene at MOPED

Selected DME Specific Peptides for UBR5 Gene

Post-translational modifications for UBR5 Gene

  • Ubiquitination at Lys 200, Lys 337, Lys 672, Lys 720, Lys 761, Lys 1109, Lys 1305, Lys 1340, and Lys 2320
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UBR5 (UBR5)

Domains & Families for UBR5 Gene

Suggested Antigen Peptide Sequences for UBR5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95071

UniProtKB/Swiss-Prot:

UBR5_HUMAN :
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 UBR-type zinc finger.
Domain:
  • Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain.
  • Contains 1 PABC domain.
Similarity:
  • Contains 1 UBR-type zinc finger.
genes like me logo Genes that share domains with UBR5: view

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.

Enzyme Numbers (IUBMB) for UBR5 Gene

Gene Ontology (GO) - Molecular Function for UBR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA,TAS 10030672
GO:0005515 protein binding IPI 12011095
GO:0016874 ligase activity IEA --
GO:0034450 ubiquitin-ubiquitin ligase activity IDA 21118991
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:

Animal Model Products

  • Taconic Biosciences Mouse Models 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
Jensen Localization Image for UBR5 Gene COMPARTMENTS Subcellular localization image for UBR5 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for UBR5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
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

1 BioSystems pathway for UBR5 Gene
1 KEGG pathway 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:0006974 cellular response to DNA damage stimulus IMP 22884692
GO:0008283 cell proliferation TAS 10030672
GO:0016567 protein ubiquitination IEA --
GO:0035413 positive regulation of catenin import into nucleus IMP 21118991
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
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
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with UBR5: view

Transcripts for UBR5 Gene

Unigene Clusters for UBR5 Gene

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

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 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, PaxDb, MOPED, and MaxQB for UBR5 Gene



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.
genes like me logo Genes that share expression patterns with UBR5: view

Protein tissue co-expression partners for UBR5 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia UBR5 35
  • 94.04 (n)
  • 99.39 (a)
UBR5 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UBR5 35
  • 95.22 (n)
  • 99.39 (a)
UBR5 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ubr5 35
  • 90.52 (n)
  • 98.25 (a)
Ubr5 16
Ubr5 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UBR5 35
  • 99.81 (n)
  • 99.96 (a)
UBR5 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UBR5 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UBR5 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves UBR5 35
  • 84.99 (n)
  • 97.84 (a)
UBR5 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UBR5 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3331 35
ubr5 35
  • 81.03 (n)
  • 95.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8606 35
zebrafish
(Danio rerio)
Actinopterygii ubr5 35
  • 74.62 (n)
  • 90.11 (a)
wufa16c12 35
ubr5 36
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001780 35
  • 51.37 (n)
  • 52.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta hyd 35
  • 50.2 (n)
  • 46 (a)
hyd 36
  • 42 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F36A2.13 36
  • 27 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
CSA.5323 36
  • 49 (a)
OneToMany
Species with no ortholog for UBR5:
  • 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)

Paralogs for UBR5 Gene

Paralogs for UBR5 Gene

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 Sequence Context AA Info Type
rs1062822 - 102,277,031(-) AAAAG(A/T)AGCTT reference, missense
rs2045413 -- 102,316,106(-) TTAAG(G/T)TTTTG intron-variant
rs2168688 -- 102,316,430(-) ATAGG(G/T)GACCA intron-variant
rs2168689 -- 102,289,327(-) TGTTT(A/G)TTATA intron-variant
rs2168690 -- 102,256,073(+) ccaag(A/G)caggc intron-variant

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

Variant ID Type Subtype PubMed ID
dgv7840n71 CNV Gain 21882294
nsv528486 CNV Loss 19592680
esv25807 CNV Loss 19812545
nsv891244 CNV Gain 21882294
nsv6335 CNV Insertion 18451855
nsv831412 CNV Gain 17160897
esv33118 CNV Loss 17666407
dgv1299e199 CNV Deletion 23128226

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)

Relevant External Links for UBR5 Gene

Human Gene Mutation Database (HGMD)
UBR5

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

Disorders for UBR5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UBR5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
acneiform dermatitis
  • dermatitis acneiform
mucopolysaccharidosis is
  • mucopolysaccharidosis ih
echinococcosis
  • echinococcal disease
- elite association - COSMIC cancer census association via MalaCards
Search UBR5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UBR5

Genetic Association Database (GAD)
UBR5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.J. … Watts C.K.W. (Oncogene 1998) 2 3 4 23 67
  2. A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons. (PMID: 16055722) Tasaki T. … Kwon Y.T. (Mol. Cell. Biol. 2005) 2 3
  3. EDD, the human orthologue of the hyperplastic discs tumour suppressor gene, is amplified and overexpressed in cancer. (PMID: 12902990) Clancy J.L. … Watts C.K. (Oncogene 2003) 3 23
  4. X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein. (PMID: 11287654) Deo R.C. … Burley S.K. (Proc. Natl. Acad. Sci. U.S.A. 2001) 3 23
  5. Systems level-based RNAi screening by high content analysis identifies UBR5 as a regulator of estrogen receptor-I+ protein levels and activity. (PMID: 24441042) Bolt M.J. … Mancini M.A. (Oncogene 2015) 3

Products for UBR5 Gene

Sources for UBR5 Gene

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