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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).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets
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
16
Cytoband
p13.3
Chromosome location (bp)
680224 - 682870
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
E3 ubiquitin-protein ligase which targets misfolded chaperone substrates towards proteasomal degradation 1,2,3,4,5. Plays a role in the maintenance of mitochondrial morphology and promotes mitophagic removal of dysfunctional mitochondria; thereby acts as a protector against apoptosis in response to cellular stress (By similarity). Negatively regulates vascular smooth muscle contraction, via degradation of the transcriptional activator MYOCD and subsequent loss of transcription of genes involved in vascular smooth muscle contraction (By similarity). Promotes survival and proliferation of cardiac smooth muscle cells via ubiquitination and degradation of FOXO1, resulting in subsequent repression of FOXO1-mediated transcription of pro-apoptotic genes 6. Ubiquitinates ICER-type isoforms of CREM and targets them for proteasomal degradation, thereby acts as a positive effector of MAPK/ERK-mediated inhibition of apoptosis in cardiomyocytes 7. Inhibits lipopolysaccharide-induced apoptosis and hypertrophy in cardiomyocytes, via ubiquitination and subsequent proteasomal degradation of NFATC3 8. Collaborates with ATXN3 in the degradation of misfolded chaperone substrates: ATXN3 restricting the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension 9,10,11,12. Ubiquitinates NOS1 in concert with Hsp70 and Hsp40 13. Modulates the activity of several chaperone complexes, including Hsp70, Hsc70 and Hsp90 14,15,16. Ubiquitinates CHRNA3 targeting it for endoplasmic reticulum-associated degradation in cortical neurons, as part of the STUB1-VCP-UBXN2A complex 17. Ubiquitinates and promotes ESR1 proteasomal degradation in response to age-related circulating estradiol (17-beta-estradiol/E2) decline, thereby promotes neuronal apoptosis in response to ischemic reperfusion injury (By similarity). Mediates transfer of non-canonical short ubiquitin chains to HSPA8 that have no effect on HSPA8 degradation 18,19. Mediates polyubiquitination of DNA polymerase beta (POLB) at 'Lys-41', 'Lys-61' and 'Lys-81', thereby playing a role in base-excision repair: catalyzes polyubiquitination by amplifying the HUWE1/ARF-BP1-dependent monoubiquitination and leading to POLB-degradation by the proteasome 20. Mediates polyubiquitination of CYP3A4 21. Ubiquitinates EPHA2 and may regulate the receptor stability and activity through proteasomal degradation 22. Acts as a co-chaperone for HSPA1A and HSPA1B chaperone proteins and promotes ubiquitin-mediated protein degradation 23. Negatively regulates the suppressive function of regulatory T-cells (Treg) during inflammation by mediating the ubiquitination and degradation of FOXP3 in a HSPA1A/B-dependent manner 24. Catalyzes monoubiquitination of SIRT6, preventing its degradation by the proteasome 25. Likely mediates polyubiquitination and down-regulates plasma membrane expression of PD-L1/CD274, an immune inhibitory ligand critical for immune tolerance to self and antitumor immunity 26. Negatively regulates TGF-beta signaling by modulating the basal level of SMAD3 via ubiquitin-mediated degradation 27. Plays a role in the degradation of TP53 28. Mediates ubiquitination of RIPK3 leading to its subsequent proteasome-dependent degradation 29. May regulate myosin assembly in striated muscles together with UBE4B and VCP/p97 by targeting myosin chaperone UNC45B for proteasomal degradation 30....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.
DNA damage, DNA repair, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]...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 intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000151[ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001664[G protein-coupled receptor binding] GO:0002931[response to ischemia] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0019900[kinase binding] GO:0030018[Z disc] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030544[Hsp70 protein binding] GO:0030579[ubiquitin-dependent SMAD protein catabolic process] GO:0030674[protein-macromolecule adaptor activity] GO:0030911[TPR domain binding] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0031072[heat shock protein binding] GO:0031371[ubiquitin conjugating enzyme complex] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0031943[regulation of glucocorticoid metabolic process] GO:0032091[negative regulation of protein binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0034450[ubiquitin-ubiquitin ligase activity] GO:0034605[cellular response to heat] GO:0038128[ERBB2 signaling pathway] GO:0042405[nuclear inclusion body] GO:0042803[protein homodimerization activity] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045862[positive regulation of proteolysis] GO:0046332[SMAD binding] GO:0048156[tau protein binding] GO:0051087[chaperone binding] GO:0051443[positive regulation of ubiquitin-protein transferase activity] GO:0051604[protein maturation] GO:0051787[misfolded protein binding] GO:0051865[protein autoubiquitination] GO:0051879[Hsp90 protein binding] GO:0061630[ubiquitin protein ligase activity] GO:0061684[chaperone-mediated autophagy] GO:0070534[protein K63-linked ubiquitination] GO:0071218[cellular response to misfolded protein] GO:0071456[cellular response to hypoxia] GO:0090035[positive regulation of chaperone-mediated protein complex assembly] GO:0101031[chaperone complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001664[G protein-coupled receptor binding] GO:0002931[response to ischemia] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0019900[kinase binding] GO:0030018[Z disc] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030544[Hsp70 protein binding] GO:0030579[ubiquitin-dependent SMAD protein catabolic process] GO:0030674[protein-macromolecule adaptor activity] GO:0030911[TPR domain binding] GO:0031072[heat shock protein binding] GO:0031371[ubiquitin conjugating enzyme complex] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0031943[regulation of glucocorticoid metabolic process] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0034450[ubiquitin-ubiquitin ligase activity] GO:0034605[cellular response to heat] GO:0038128[ERBB2 signaling pathway] GO:0042405[nuclear inclusion body] GO:0042803[protein homodimerization activity] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045862[positive regulation of proteolysis] GO:0046332[SMAD binding] GO:0048156[tau protein binding] GO:0051087[chaperone binding] GO:0051604[protein maturation] GO:0051787[misfolded protein binding] GO:0051865[protein autoubiquitination] GO:0051879[Hsp90 protein binding] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0071218[cellular response to misfolded protein] GO:0071456[cellular response to hypoxia] GO:0090035[positive regulation of chaperone-mediated protein complex assembly] GO:0101031[chaperone complex]
Enzymes ENZYME proteins Transferases Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000151[ubiquitin ligase complex] GO:0000209[protein polyubiquitination] GO:0001664[G protein-coupled receptor binding] GO:0002931[response to ischemia] GO:0004842[ubiquitin-protein transferase activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006515[protein quality control for misfolded or incompletely synthesized proteins] GO:0006974[cellular response to DNA damage stimulus] GO:0016567[protein ubiquitination] GO:0016740[transferase activity] GO:0019899[enzyme binding] GO:0019900[kinase binding] GO:0030018[Z disc] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030544[Hsp70 protein binding] GO:0030579[ubiquitin-dependent SMAD protein catabolic process] GO:0030674[protein-macromolecule adaptor activity] GO:0030911[TPR domain binding] GO:0031072[heat shock protein binding] GO:0031371[ubiquitin conjugating enzyme complex] GO:0031398[positive regulation of protein ubiquitination] GO:0031625[ubiquitin protein ligase binding] GO:0031647[regulation of protein stability] GO:0031943[regulation of glucocorticoid metabolic process] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0034450[ubiquitin-ubiquitin ligase activity] GO:0034605[cellular response to heat] GO:0038128[ERBB2 signaling pathway] GO:0042405[nuclear inclusion body] GO:0042803[protein homodimerization activity] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0045862[positive regulation of proteolysis] GO:0046332[SMAD binding] GO:0048156[tau protein binding] GO:0051087[chaperone binding] GO:0051604[protein maturation] GO:0051787[misfolded protein binding] GO:0051865[protein autoubiquitination] GO:0051879[Hsp90 protein binding] GO:0061630[ubiquitin protein ligase activity] GO:0070534[protein K63-linked ubiquitination] GO:0071218[cellular response to misfolded protein] GO:0071456[cellular response to hypoxia] GO:0090035[positive regulation of chaperone-mediated protein complex assembly] GO:0101031[chaperone complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
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