• Gene id: 55148

Gene Summary

• Gene Symbol: UBR7   Gene   UCSC   Ensembl
• Aliases: C14orf130
• Gene name: ubiquitin protein ligase E3 component n-recognin 7
• Alternate names: putative E3 ubiquitin-protein ligase UBR7, N-recognin-7, RING-type E3 ubiquitin transferase UBR7, ubiquitin protein ligase E3 component n-recognin 7 (putative),
• Gene location: 14q32.12 (93207055: 93229214)     Exons: 11     NC_000014.9
• Gene summary(Entrez): This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residu
• OMIM: 613816

Protein Summary

• Protein general information: Q8N806  
  • Name: Putative E3 ubiquitin protein ligase UBR7 (EC 2.3.2.27) (N recognin 7) (RING type E3 ubiquitin transferase UBR7)
  • Length: 425  
  • Mass: 47999
  • Tissue specificity: Expressed in sperm (at protein level). {ECO
• Sequence:

  MAGAEGAAGRQSELEPVVSLVDVLEEDEELENEACAVLGGSDSEKCSYSQGSVKRQALYACSTCTPEGEEPAGIC
  LACSYECHGSHKLFELYTKRNFRCDCGNSKFKNLECKLLPDKAKVNSGNKYNDNFFGLYCICKRPYPDPEDEIPD
  EMIQCVVCEDWFHGRHLGAIPPESGDFQEMVCQACMKRCSFLWAYAAQLAVTKISTEDDGLVRNIDGIGDQEVIK
  PENGEHQDSTLKEDVPEQGKDDVREVKVEQNSEPCAGSSSESDLQTVFKNESLNAESKSGCKLQELKAKQLIKKD
  TATYWPLNWRSKLCTCQDCMKMYGDLDVLFLTDEYDTVLAYENKGKIAQATDRSDPLMDTLSSMNRVQQVELICE
  YNDLKTELKDYLKRFADEGTVVKREDIQQFFEEFQSKKRRRVDGMQYYCS

• Structural information:
  • Interpro: IPR040204  IPR011011  IPR013083  IPR003126  
  • Prosite: PS51157
  • STRING: ENSP00000013070
• Other Databases: GeneCards:  UBR7  Malacards:  UBR7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0008270	zinc ion binding	IEA	molecular function
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016567	protein ubiquitination	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq