Homo sapiens Protein: ZNRF1
Summary
InnateDB Protein IDBP-751173.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ZNRF1
Protein Name
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000455601
InnateDB Gene IDBG-42267 (ZNRF1)
Protein Structure
UniProt Annotation
Function E3 ubiquitin-protein ligase that mediates the ubiquitination of AKT1 and GLUL, thereby playing a role in neuron cells differentiation. Plays a role in the establishment and maintenance of neuronal transmission and plasticity. Regulates Schwann cells differentiation by mediating ubiquitination of GLUL. Promotes neurodegeneration by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of AKT1 in axons: degradation of AKT1 prevents AKT1-mediated phosphorylation of GSK3B, leading to GSK3B activation and phosphorylation of DPYSL2/CRMP2 followed by destabilization of microtubule assembly in axons (Probable). {ECO:0000305PubMed:14561866}.
Subcellular Localization Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Note=Associated with synaptic vesicle membranes in neurons.
Disease Associations
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:0000269PubMed:11427537, ECO:0000269PubMed:14561866}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 24 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 24 [view]
Protein-Protein 24 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0016874 ligase activity
GO:0046872 metal ion binding
Biological Process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0070936 protein K48-linked ubiquitination
Cellular Component
GO:0005764 lysosome
GO:0005768 endosome
GO:0005829 cytosol
GO:0016020 membrane
GO:0030054 cell junction
GO:0030672 synaptic vesicle membrane
Protein Structure and Domains
PDB ID
InterPro IPR001841 Zinc finger, RING-type
IPR018957 Zinc finger, C3HC4 RING-type
PFAM PF13639
PF14634
PF00097
PRINTS
PIRSF
SMART SM00184
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8ND25
PhosphoSite PhosphoSite-Q8ND25
TrEMBL J3KTB9
UniProt Splice Variant
Entrez Gene 84937
UniGene Hs.717791
RefSeq
HUGO HGNC:18452
OMIM 612060
CCDS CCDS10912
HPRD 15893
IMGT
EMBL AC092383 AC099508 AF378524 AL136903 AL834440 BC007235 CH471114
GenPept AAH07235 AAK69753 CAB66837 CAD39100 EAW95668 EAW95670 EAW95671