• Gene id: 51366

Gene Summary

• Gene Symbol: UBR5   Gene   UCSC   Ensembl
• Aliases: DD5, EDD, EDD1, HYD
• Gene name: ubiquitin protein ligase E3 component n-recognin 5
• Alternate names: E3 ubiquitin-protein ligase UBR5, E3 identified by differential display, E3 ubiquitin-protein ligase, HECT domain-containing 1, HECT-type E3 ubiquitin transferase UBR5, hyperplastic discs protein homolog, progestin-induced protein,
• Gene location: 8q22.3 (102412699: 102252272)     Exons: 60     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 608413

Protein Summary

• Protein general information: O95071  
  • Name: E3 ubiquitin protein ligase UBR5 (EC 2.3.2.26) (E3 ubiquitin protein ligase, HECT domain containing 1) (HECT type E3 ubiquitin transferase UBR5) (Hyperplastic discs protein homolog) (hHYD) (Progestin induced protein)
  • Length: 2799  
  • Mass: 309352
  • Tissue specificity: Widely expressed. Most abundant in testis and expressed at high levels in brain, pituitary and kidney.
• Sequence:

  MTSIHFVVHPLPGTEDQLNDRLREVSEKLNKYNLNSHPPLNVLEQATIKQCVVGPNHAAFLLEDGRVCRIGFSVQ
  PDRLELGKPDNNDGSKLNSNSGAGRTSRPGRTSDSPWFLSGSETLGRLAGNTLGSRWSSGVGGSGGGSSGRSSAG
  ARDSRRQTRVIRTGRDRGSGLLGSQPQPVIPASVIPEELISQAQVVLQGKSRSVIIRELQRTNLDVNLAVNNLLS
  RDDEDGDDGDDTASESYLPGEDLMSLLDADIHSAHPSVIIDADAMFSEDISYFGYPSFRRSSLSRLGSSRVLLLP
  LERDSELLRERESVLRLRERRWLDGASFDNERGSTSKEGEPNLDKKNTPVQSPVSLGEDLQWWPDKDGTKFICIG
  ALYSELLAVSSKGELYQWKWSESEPYRNAQNPSLHHPRATFLGLTNEKIVLLSANSIRATVATENNKVATWVDET
  LSSVASKLEHTAQTYSELQGERIVSLHCCALYTCAQLENSLYWWGVVPFSQRKKMLEKARAKNKKPKSSAGISSM
  PNITVGTQVCLRNNPLYHAGAVAFSISAGIPKVGVLMESVWNMNDSCRFQLRSPESLKNMEKASKTTEAKPESKQ
  EPVKTEMGPPPSPASTCSDASSIASSASMPYKRRRSTPAPKEEEKVNEEQWSLREVVFVEDVKNVPVGKVLKVDG
  AYVAVKFPGTSSNTNCQNSSGPDADPSSLLQDCRLLRIDELQVVKTGGTPKVPDCFQRTPKKLCIPEKTEILAVN
  VDSKGVHAVLKTGNWVRYCIFDLATGKAEQENNFPTSSIAFLGQNERNVAIFTAGQESPIILRDGNGTIYPMAKD
  CMGGIRDPDWLDLPPISSLGMGVHSLINLPANSTIKKKAAVIIMAVEKQTLMQHILRCDYEACRQYLMNLEQAVV
  LEQNLQMLQTFISHRCDGNRNILHACVSVCFPTSNKETKEEEEAERSERNTFAERLSAVEAIANAISVVSSNGPG
  NRAGSSSSRSLRLREMMRRSLRAAGLGRHEAGASSSDHQDPVSPPIAPPSWVPDPPAMDPDGDIDFILAPAVGSL
  TTAATGTGQGPSTSTIPGPSTEPSVVESKDRKANAHFILKLLCDSVVLQPYLRELLSAKDARGMTPFMSAVSGRA
  YPAAITILETAQKIAKAEISSSEKEEDVFMGMVCPSGTNPDDSPLYVLCCNDTCSFTWTGAEHINQDIFECRTCG
  LLESLCCCTECARVCHKGHDCKLKRTSPTAYCDCWEKCKCKTLIAGQKSARLDLLYRLLTATNLVTLPNSRGEHL
  LLFLVQTVARQTVEHCQYRPPRIREDRNRKTASPEDSDMPDHDLEPPRFAQLALERVLQDWNALKSMIMFGSQEN
  KDPLSASSRIGHLLPEEQVYLNQQSGTIRLDCFTHCLIVKCTADILLLDTLLGTLVKELQNKYTPGRREEAIAVT
  MRFLRSVARVFVILSVEMASSKKKNNFIPQPIGKCKRVFQALLPYAVEELCNVAESLIVPVRMGIARPTAPFTLA
  STSIDAMQGSEELFSVEPLPPRPSSDQSSSSSQSQSSYIIRNPQQRRISQSQPVRGRDEEQDDIVSADVEEVEVV
  EGVAGEEDHHDEQEEHGEENAEAEGQHDEHDEDGSDMELDLLAAAETESDSESNHSNQDNASGRRSVVTAATAGS
  EAGASSVPAFFSEDDSQSNDSSDSDSSSSQSDDIEQETFMLDEPLERTTNSSHANGAAQAPRSMQWAVRNTQHQR
  AASTAPSSTSTPAASSAGLIYIDPSNLRRSGTISTSAAAAAAALEASNASSYLTSASSLARAYSIVIRQISDLMG
  LIPKYNHLVYSQIPAAVKLTYQDAVNLQNYVEEKLIPTWNWMVSIMDSTEAQLRYGSALASAGDPGHPNHPLHAS
  QNSARRERMTAREEASLRTLEGRRRATLLSARQGMMSARGDFLNYALSLMRSHNDEHSDVLPVLDVCSLKHVAYV
  FQALIYWIKAMNQQTTLDTPQLERKRTRELLELGIDNEDSEHENDDDTNQSATLNDKDDDSLPAETGQNHPFFRR
  SDSMTFLGCIPPNPFEVPLAEAIPLADQPHLLQPNARKEDLFGRPSQGLYSSSASSGKCLMEVTVDRNCLEVLPT
  KMSYAANLKNVMNMQNRQKKEGEEQPVLPEETESSKPGPSAHDLAAQLKSSLLAEIGLTESEGPPLTSFRPQCSF
  MGMVISHDMLLGRWRLSLELFGRVFMEDVGAEPGSILTELGGFEVKESKFRREMEKLRNQQSRDLSLEVDRDRDL
  LIQQTMRQLNNHFGRRCATTPMAVHRVKVTFKDEPGEGSGVARSFYTAIAQAFLSNEKLPNLECIQNANKGTHTS
  LMQRLRNRGERDREREREREMRRSSGLRAGSRRDRDRDFRRQLSIDTRPFRPASEGNPSDDPEPLPAHRQALGER
  LYPRVQAMQPAFASKITGMLLELSPAQLLLLLASEDSLRARVDEAMELIIAHGRENGADSILDLGLVDSSEKVQQ
  ENRKRHGSSRSVVDMDLDDTDDGDDNAPLFYQPGKRGFYTPRPGKNTEARLNCFRNIGRILGLCLLQNELCPITL
  NRHVIKVLLGRKVNWHDFAFFDPVMYESLRQLILASQSSDADAVFSAMDLAFAIDLCKEEGGGQVELIPNGVNIP
  VTPQNVYEYVRKYAEHRMLVVAEQPLHAMRKGLLDVLPKNSLEDLTAEDFRLLVNGCGEVNVQMLISFTSFNDES
  GENAEKLLQFKRWFWSIVEKMSMTERQDLVYFWTSSPSLPASEEGFQPMPSITIRPPDDQHLPTANTCISRLYVP
  LYSSKQILKQKLLLAIKTKNFGFV

• Structural information:
  • Protein Domains: (2377..245-)
    (/note="PABC-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00641-)
    (2462..279-)
    (/note="HECT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00104"-)
  • Interpro: IPR024725  IPR000569  IPR035983  IPR036053  IPR002004   IPR009091  IPR003126  
  • Prosite: PS50237 PS51309 PS51157
  • CDD: cd14423
  • PDB: 1I2T 2QHO 3PT3
  • PDBsum: 1I2T 2QHO 3PT3
  • DIP: 32930
  • STRING: ENSP00000429084
• Other Databases: GeneCards:  UBR5  Malacards:  UBR5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050847	progesterone receptor signaling pathway	IDA	biological process
GO:2000779	regulation of double-strand break repair	IBA	biological process
GO:1901315	negative regulation of histone H2A K63-linked ubiquitination	IBA	biological process
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000209	protein polyubiquitination	IBA	biological process
GO:2000780	negative regulation of double-strand break repair	IMP	biological process
GO:1901315	negative regulation of histone H2A K63-linked ubiquitination	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034450	ubiquitin-ubiquitin ligase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042307	positive regulation of protein import into nucleus	IMP	biological process
GO:0000209	protein polyubiquitination	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04120	Ubiquitin mediated proteolysis

Diseases

Associated diseases	References
invasive ductal carcinoma	PMID:14871824
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)