• Gene id: 197131

Gene Summary

• Gene Symbol: UBR1   Gene   UCSC   Ensembl
• Aliases: JBS
• Gene name: ubiquitin protein ligase E3 component n-recognin 1
• Alternate names: E3 ubiquitin-protein ligase UBR1, E3a ligase, N-recognin-1, RING-type E3 ubiquitin transferase UBR1, ubiquitin ligase E3 alpha-I, ubiquitin-protein ligase E3-alpha, ubiquitin-protein ligase E3-alpha-1, ubiquitin-protein ligase E3-alpha-I,
• Gene location: 15q15.2 (43106037: 42942896)     Exons: 47     NC_000015.10
• Gene summary(Entrez): The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate
• OMIM: 605981

Protein Summary

• Protein general information: Q8IWV7  
  • Name: E3 ubiquitin protein ligase UBR1 (EC 2.3.2.27) (N recognin 1) (RING type E3 ubiquitin transferase UBR1) (Ubiquitin protein ligase E3 alpha 1) (Ubiquitin protein ligase E3 alpha I)
  • Length: 1749  
  • Mass: 200211
  • Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in acinar cells of the pancreas (at protein level). {ECO
• Sequence:

  MADEEAGGTERMEISAELPQTPQRLASWWDQQVDFYTAFLHHLAQLVPEIYFAEMDPDLEKQEESVQMSIFTPLE
  WYLFGEDPDICLEKLKHSGAFQLCGRVFKSGETTYSCRDCAIDPTCVLCMDCFQDSVHKNHRYKMHTSTGGGFCD
  CGDTEAWKTGPFCVNHEPGRAGTIKENSRCPLNEEVIVQARKIFPSVIKYVVEMTIWEEEKELPPELQIREKNER
  YYCVLFNDEHHSYDHVIYSLQRALDCELAEAQLHTTAIDKEGRRAVKAGAYAACQEAKEDIKSHSENVSQHPLHV
  EVLHSEIMAHQKFALRLGSWMNKIMSYSSDFRQIFCQACLREEPDSENPCLISRLMLWDAKLYKGARKILHELIF
  SSFFMEMEYKKLFAMEFVKYYKQLQKEYISDDHDRSISITALSVQMFTVPTLARHLIEEQNVISVITETLLEVLP
  EYLDRNNKFNFQGYSQDKLGRVYAVICDLKYILISKPTIWTERLRMQFLEGFRSFLKILTCMQGMEEIRRQVGQH
  IEVDPDWEAAIAIQMQLKNILLMFQEWCACDEELLLVAYKECHKAVMRCSTSFISSSKTVVQSCGHSLETKSYRV
  SEDLVSIHLPLSRTLAGLHVRLSRLGAVSRLHEFVSFEDFQVEVLVEYPLRCLVLVAQVVAEMWRRNGLSLISQV
  FYYQDVKCREEMYDKDIIMLQIGASLMDPNKFLLLVLQRYELAEAFNKTISTKDQDLIKQYNTLIEEMLQVLIYI
  VGERYVPGVGNVTKEEVTMREIIHLLCIEPMPHSAIAKNLPENENNETGLENVINKVATFKKPGVSGHGVYELKD
  ESLKDFNMYFYHYSKTQHSKAEHMQKKRRKQENKDEALPPPPPPEFCPAFSKVINLLNCDIMMYILRTVFERAID
  TDSNLWTEGMLQMAFHILALGLLEEKQQLQKAPEEEVTFDFYHKASRLGSSAMNIQMLLEKLKGIPQLEGQKDMI
  TWILQMFDTVKRLREKSCLIVATTSGSESIKNDEITHDKEKAERKRKAEAARLHRQKIMAQMSALQKNFIETHKL
  MYDNTSEMPGKEDSIMEEESTPAVSDYSRIALGPKRGPSVTEKEVLTCILCQEEQEVKIENNAMVLSACVQKSTA
  LTQHRGKPIELSGEALDPLFMDPDLAYGTYTGSCGHVMHAVCWQKYFEAVQLSSQQRIHVDLFDLESGEYLCPLC
  KSLCNTVIPIIPLQPQKINSENADALAQLLTLARWIQTVLARISGYNIRHAKGENPIPIFFNQGMGDSTLEFHSI
  LSFGVESSIKYSNSIKEMVILFATTIYRIGLKVPPDERDPRVPMLTWSTCAFTIQAIENLLGDEGKPLFGALQNR
  QHNGLKALMQFAVAQRITCPQVLIQKHLVRLLSVVLPNIKSEDTPCLLSIDLFHVLVGAVLAFPSLYWDDPVDLQ
  PSSVSSSYNHLYLFHLITMAHMLQILLTVDTGLPLAQVQEDSEEAHSASSFFAEISQYTSGSIGCDIPGWYLWVS
  LKNGITPYLRCAALFFHYLLGVTPPEELHTNSAEGEYSALCSYLSLPTNLFLLFQEYWDTVRPLLQRWCADPALL
  NCLKQKNTVVRYPRKRNSLIELPDDYSCLLNQASHFRCPRSADDERKHPVLCLFCGAILCSQNICCQEIVNGEEV
  GACIFHALHCGAGVCIFLKIRECRVVLVEGKARGCAYPAPYLDEYGETDPGLKRGNPLHLSRERYRKLHLVWQQH
  CIIEEIARSQETNQMLFGFNWQLL

• Structural information:
  • Interpro: IPR003769  IPR014719  IPR039164  IPR036390  IPR003126  
  • Prosite: PS51157
  • PDB: 3NY1 5TDC
  • PDBsum: 3NY1 5TDC
  • DIP: 47033
  • STRING: ENSP00000290650
• Other Databases: GeneCards:  UBR1  Malacards:  UBR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071596	ubiquitin-dependent protein catabolic process via the N-end rule pathway	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0000151	ubiquitin ligase complex	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0071596	ubiquitin-dependent protein catabolic process via the N-end rule pathway	IEA	biological process
GO:0030163	protein catabolic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000151	ubiquitin ligase complex	IEA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0000502	proteasome complex	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0070728	leucine binding	IDA	molecular function
GO:0071233	cellular response to leucine	IDA	biological process
GO:0032007	negative regulation of TOR signaling	IMP	biological process

Diseases

Associated diseases	References
Johanson-Blizzard syndrome	KEGG:H00571
Johanson-Blizzard syndrome	KEGG:H00571
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq