• Gene id: 84937

Gene Summary

• Gene Symbol: ZNRF1   Gene   UCSC   Ensembl
• Aliases: NIN283
• Gene name: zinc and ring finger 1
• Alternate names: E3 ubiquitin-protein ligase ZNRF1, RING-type E3 ubiquitin transferase ZNRF1, nerve injury gene 283, nerve injury-induced gene 283 protein, zinc and ring finger 1, E3 ubiquitin protein ligase, zinc and ring finger protein 1, zinc/RING finger protein 1,
• Gene location: 16q23.1 (74999023: 75110993)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the
• OMIM: 613397

Protein Summary

• Protein general information: Q8ND25  
  • Name: E3 ubiquitin protein ligase ZNRF1 (EC 2.3.2.27) (Nerve injury induced gene 283 protein) (RING type E3 ubiquitin transferase ZNRF1) (Zinc/RING finger protein 1)
  • Length: 227  
  • Mass: 23783
  • Tissue specificity: Expressed primarily in the nervous system, with expression higher in developing brain relative to adult. Expressed at low levels in testis and thymus. {ECO
• Sequence:

  MGGKQSTAARSRGPFPGVSTDDSAVPPPGGAPHFGHYRTGGGAMGLRSRSVSSVAGMGMDPSTAGGVPFGLYTPA
  SRGTGDSERAPGGGGSASDSTYAHGNGYQETGGGHHRDGMLYLGSRASLADALPLHIAPRWFSSHSGFKCPICSK
  SVASDEMEMHFIMCLSKPRLSYNDDVLTKDAGECVICLEELLQGDTIARLPCLCIYHKSCIDSWFEVNRSCPEHP
  AD

• Structural information:
  • Interpro: IPR001841  IPR013083  
  • Prosite: PS50089
  • PDB: 5YWR
  • PDBsum: 5YWR
  • STRING: ENSP00000335091
• Other Databases: GeneCards:  ZNRF1  Malacards:  ZNRF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070936	protein K48-linked ubiquitination	ISS	biological process
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005768	endosome	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0070936	protein K48-linked ubiquitination	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray