Human Gene ZNRF1 (uc002fdl.1) Description and Page Index
Description: Homo sapiens zinc and ring finger 1, E3 ubiquitin protein ligase (ZNRF1), mRNA. RefSeq Summary (NM_032268): 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 endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]. Sequence Note: The RefSeq transcript and protein were derived from transcript and genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF378524.1, SRR1660803.161893.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000335325.9/ ENSP00000335091.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr16:75,032,915-75,144,892 Size: 111,978 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr16:75,033,570-75,140,437 Size: 106,868 Coding Exon Count: 4
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.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): ZNRF1 CDC HuGE Published Literature: ZNRF1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8ND25
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000209 protein polyubiquitination GO:0016567 protein ubiquitination GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0070936 protein K48-linked ubiquitination