Human Gene ZNRF1 (ENST00000567962.5) Description and Page Index

Description: 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). (from UniProt Q8ND25)
Gencode Transcript: ENST00000567962.5
Gencode Gene: ENSG00000186187.12
Transcript (Including UTRs)
Position: hg38 chr16:74,999,345-75,108,028 Size: 108,684 Total Exon Count: 5 Strand: +
Coding Region
Position: hg38 chr16:74,999,672-75,106,539 Size: 106,868 Coding Exon Count: 4

Page Index

Sequence and Links

UniProtKB Comments

Protein Structure

Other Names

Methods

Data last updated at UCSC: 2021-06-20 19:51:40

Comments and Description Text from UniProtKB


	ID: ZNRF1_HUMAN DESCRIPTION: RecName: Full=E3 ubiquitin-protein ligase ZNRF1; EC=6.3.2.-; AltName: Full=Nerve injury-induced gene 283 protein; AltName: Full=Zinc/RING finger protein 1; 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). PATHWAY: Protein modification; protein ubiquitination. SUBUNIT: Interacts with AKT1, GLUL and TUBB2A (By similarity). INTERACTION: P51668:UBE2D1; NbExp=4; IntAct=EBI-2129250, EBI-743540; P62837:UBE2D2; NbExp=4; IntAct=EBI-2129250, EBI-347677; P61077:UBE2D3; NbExp=3; IntAct=EBI-2129250, EBI-348268; Q9Y2X8:UBE2D4; NbExp=3; IntAct=EBI-2129250, EBI-745527; P51965:UBE2E1; NbExp=3; IntAct=EBI-2129250, EBI-348546; P61088:UBE2N; NbExp=3; IntAct=EBI-2129250, EBI-1052908; Q13404:UBE2V1; NbExp=2; IntAct=EBI-2129250, EBI-1050671; SUBCELLULAR LOCATION: Endosome. Lysosome. Membrane; Peripheral membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein (Potential). 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. DOMAIN: The RING-type zinc finger domain is required for E3 ligase activity (By similarity). SIMILARITY: Contains 1 RING-type zinc finger.