| Gene Symbol |
ZNRF1
|
| Entrez Gene |
84937
|
| Alt Symbol |
NIN283
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
zinc and ring finger 1, E3 ubiquitin protein ligase
|
| Other Description |
E3 ubiquitin-protein ligase ZNRF1|nerve injury gene 283|nerve injury-induced gene 283 protein|zinc and ring finger protein 1|zinc/RING finger protein 1
|
| Swissprots |
Q9H083 Q8ND25 D3DUJ9
|
| Accessions |
CAF06461 CBJ21214 EAW95668 EAW95669 EAW95670 EAW95671 Q8ND25 AF378524 AAK69753 AK027752 AK094870 AK128349 AK294434 BAG57678 AL136903 CAB66837 AL390144 AL834440 CAD39100 AM392788 CAL37666 BC007235 AAH07235 BQ884230 EU446548 ABZ92077 XM_011523389 XP_011521691 XM_011523390 XP_011521692 XM_011523391 XP_011521693 XM_011523392 XP_011521694 XM_011523393 XP_011521695 XM_011523394 XP_011521696 XM_011523395 XP_011521697 NM_032268 NP_115644
|
| 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:0000305|PubMed:14561866}.
|
| Subcellular Location |
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.
|
| 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:0000269|PubMed:11427537, ECO:0000269|PubMed:14561866}.
|