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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Enzymes Metabolic proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
1
Cytoband
p36.12
Chromosome location (bp)
20499448 - 20508151
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Exhibits weak E3 ubiquitin-protein ligase activity 1,2,3. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates 4,5,6. Can ubiquitinate AKT1 preferentially at 'Lys-284' involving 'Lys-48'-linked polyubiquitination and seems to be involved in regulation of Akt signaling by targeting phosphorylated Akt to proteasomal degradation 7. Mediates polyubiquitination of cytoplasmic TP53 at 'Lys-24' which targets TP53 for proteasomal degradation, thus reducing TP53 levels in the cytoplasm and mitochondrion 8. Proposed to preferentially act as a SUMO E3 ligase at physiological concentrations 9. Plays a role in the control of mitochondrial morphology by promoting mitochondrial fragmentation, and influences mitochondrial localization 10,11,12. Likely to promote mitochondrial fission through negatively regulating the mitochondrial fusion proteins MFN1 and MFN2, acting in a pathway that is parallel to the PRKN/PINK1 regulatory pathway 13. May also be involved in the sumoylation of the membrane fission protein DNM1L 14,15. Inhibits cell growth 16,17. When overexpressed, activates JNK through MAP3K7/TAK1 and induces caspase-dependent apoptosis 18. Involved in the modulation of innate immune defense against viruses by inhibiting RIGI-dependent antiviral response 19. Can mediate RIGI sumoylation and disrupt its polyubiquitination 20....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Ubl conjugation pathway
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables several functions, including p53 binding activity; ubiquitin protein ligase binding activity; and ubiquitin-like protein transferase activity. Involved in several processes, including negative regulation of defense response; positive regulation of cellular protein metabolic process; and regulation of mitochondrion organization. Located in several cellular components, including mitochondrion; neuronal cell body; and peroxisome. Is integral component of mitochondrial outer membrane. [provided by Alliance of Genome Resources, Apr 2022]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000209[protein polyubiquitination] GO:0000266[mitochondrial fission] GO:0002039[p53 binding] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006915[apoptotic process] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006996[organelle organization] GO:0010637[negative regulation of mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0030308[negative regulation of cell growth] GO:0030424[axon] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0031648[protein destabilization] GO:0033235[positive regulation of protein sumoylation] GO:0042802[identical protein binding] GO:0043025[neuronal cell body] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0045824[negative regulation of innate immune response] GO:0046872[metal ion binding] GO:0050689[negative regulation of defense response to virus by host] GO:0050821[protein stabilization] GO:0051646[mitochondrion localization] GO:0051881[regulation of mitochondrial membrane potential] GO:0051898[negative regulation of protein kinase B signaling] GO:0060339[negative regulation of type I interferon-mediated signaling pathway] GO:0061630[ubiquitin protein ligase activity] GO:0071360[cellular response to exogenous dsRNA] GO:0071650[negative regulation of chemokine (C-C motif) ligand 5 production] GO:0090141[positive regulation of mitochondrial fission] GO:1901028[regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway] GO:1903861[positive regulation of dendrite extension] GO:1904925[positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization]
The Human Protein Atlas project is funded
