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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 Plasma proteins Potential drug targets Transporters
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
9
Cytoband
p13.3
Chromosome location (bp)
35053928 - 35072668
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Necessary for the fragmentation of Golgi stacks during mitosis and for their reassembly after mitosis. Involved in the formation of the transitional endoplasmic reticulum (tER). The transfer of membranes from the endoplasmic reticulum to the Golgi apparatus occurs via 50-70 nm transition vesicles which derive from part-rough, part-smooth transitional elements of the endoplasmic reticulum (tER). Vesicle budding from the tER is an ATP-dependent process. The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope. Regulates E3 ubiquitin-protein ligase activity of RNF19A. Component of the VCP/p97-AMFR/gp78 complex that participates in the final step of the sterol-mediated ubiquitination and endoplasmic reticulum-associated degradation (ERAD) of HMGCR. Involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation 1. Plays a role in the regulation of stress granules (SGs) clearance process upon arsenite-induced response 2. Also involved in DNA damage response: recruited to double-strand breaks (DSBs) sites in a RNF8- and RNF168-dependent manner and promotes the recruitment of TP53BP1 at DNA damage sites 3,4. Recruited to stalled replication forks by SPRTN: may act by mediating extraction of DNA polymerase eta (POLH) to prevent excessive translesion DNA synthesis and limit the incidence of mutations induced by DNA damage 5,6. Together with SPRTN metalloprotease, involved in the repair of covalent DNA-protein cross-links (DPCs) during DNA synthesis 7. Involved in interstrand cross-link repair in response to replication stress by mediating unloading of the ubiquitinated CMG helicase complex (By similarity). Mediates extraction of PARP1 trapped to chromatin: recognizes and binds ubiquitinated PARP1 and promotes its removal 8. Required for cytoplasmic retrotranslocation of stressed/damaged mitochondrial outer-membrane proteins and their subsequent proteasomal degradation 9,10. Essential for the maturation of ubiquitin-containing autophagosomes and the clearance of ubiquitinated protein by autophagy 11,12. Acts as a negative regulator of type I interferon production by interacting with RIGI: interaction takes place when RIGI is ubiquitinated via 'Lys-63'-linked ubiquitin on its CARD domains, leading to recruit RNF125 and promote ubiquitination and degradation of RIGI 13. May play a role in the ubiquitin-dependent sorting of membrane proteins to lysosomes where they undergo degradation 14. May more particularly play a role in caveolins sorting in cells 15,16. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway 17....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Hydrolase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Autophagy, DNA damage, DNA repair, Transport, 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.
ATP-binding, Lipid-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Enzymes ENZYME proteins Hydrolases Transporters Primary Active Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Musculoskeletal diseases Muscular diseases 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)
Show all
GO:0000166[nucleotide binding] GO:0000502[proteasome complex] GO:0003723[RNA binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005811[lipid droplet] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006302[double-strand break repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006734[NADH metabolic process] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0006914[autophagy] GO:0006919[activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0006974[cellular response to DNA damage stimulus] GO:0008289[lipid binding] GO:0010494[cytoplasmic stress granule] GO:0010498[proteasomal protein catabolic process] GO:0010918[positive regulation of mitochondrial membrane potential] GO:0016236[macroautophagy] GO:0016567[protein ubiquitination] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0019079[viral genome replication] GO:0019903[protein phosphatase binding] GO:0019904[protein domain specific binding] GO:0019985[translesion synthesis] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0030970[retrograde protein transport, ER to cytosol] GO:0031334[positive regulation of protein-containing complex assembly] GO:0031593[polyubiquitin modification-dependent protein binding] GO:0031625[ubiquitin protein ligase binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032510[endosome to lysosome transport via multivesicular body sorting pathway] GO:0032991[protein-containing complex] GO:0034098[VCP-NPL4-UFD1 AAA ATPase complex] GO:0034605[cellular response to heat] GO:0034774[secretory granule lumen] GO:0035578[azurophil granule lumen] GO:0035617[stress granule disassembly] GO:0035800[deubiquitinase activator activity] GO:0035861[site of double-strand break] GO:0036297[interstrand cross-link repair] GO:0036435[K48-linked polyubiquitin modification-dependent protein binding] GO:0036503[ERAD pathway] GO:0036513[Derlin-1 retrotranslocation complex] GO:0042288[MHC class I protein binding] GO:0042802[identical protein binding] GO:0042981[regulation of apoptotic process] GO:0043161[proteasome-mediated ubiquitin-dependent protein catabolic process] GO:0043231[intracellular membrane-bounded organelle] GO:0043531[ADP binding] GO:0044389[ubiquitin-like protein ligase binding] GO:0044877[protein-containing complex binding] GO:0045184[establishment of protein localization] GO:0045202[synapse] GO:0045732[positive regulation of protein catabolic process] GO:0045879[negative regulation of smoothened signaling pathway] GO:0046034[ATP metabolic process] GO:0048471[perinuclear region of cytoplasm] GO:0050807[regulation of synapse organization] GO:0051228[mitotic spindle disassembly] GO:0061857[endoplasmic reticulum stress-induced pre-emptive quality control] GO:0070062[extracellular exosome] GO:0070842[aggresome assembly] GO:0071712[ER-associated misfolded protein catabolic process] GO:0072389[flavin adenine dinucleotide catabolic process] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0097352[autophagosome maturation] GO:0098978[glutamatergic synapse] GO:0106300[protein-DNA covalent cross-linking repair] GO:0140036[ubiquitin-dependent protein binding] GO:1903006[positive regulation of protein K63-linked deubiquitination] GO:1903007[positive regulation of Lys63-specific deubiquitinase activity] GO:1903715[regulation of aerobic respiration] GO:1903843[cellular response to arsenite ion] GO:1903862[positive regulation of oxidative phosphorylation] GO:1904288[BAT3 complex binding] GO:1904813[ficolin-1-rich granule lumen] GO:1904949[ATPase complex] GO:1905634[regulation of protein localization to chromatin] GO:1990381[ubiquitin-specific protease binding] GO:1990730[VCP-NSFL1C complex] GO:2000060[positive regulation of ubiquitin-dependent protein catabolic process] GO:2001171[positive regulation of ATP biosynthetic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Musculoskeletal diseases Muscular diseases Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
