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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 Plasma 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
19
Cytoband
q13.33
Chromosome location (bp)
48993562 - 49015970
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Possesses single-stranded DNA-stimulated ATPase and ATP-dependent DNA helicase (5' to 3') activity; hexamerization is thought to be critical for ATP hydrolysis and adjacent subunits in the ring-like structure contribute to the ATPase activity 1,2,3. Component of the NuA4 histone acetyltransferase complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A 4. This modification may both alter nucleosome -DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription 5. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair 6. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400 7. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage 8. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome 9. Proposed core component of the chromatin remodeling INO80 complex which exhibits DNA- and nucleosome-activated ATPase activity and catalyzes ATP-dependent nucleosome sliding 10,11. Plays an essential role in oncogenic transformation by MYC and also modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex 12,13. May also inhibit the transcriptional activity of ATF2 14. Involved in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway where it negatively regulates expression of ER stress response genes 15. May play a role in regulating the composition of the U5 snRNP complex 16....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA recombination, DNA repair, Growth regulation, Transcription, Transcription regulation
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, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]...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 Hydrolases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0000492[box C/D snoRNP assembly] GO:0000723[telomere maintenance] GO:0000786[nucleosome] GO:0000791[euchromatin] GO:0000812[Swr1 complex] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000979[RNA polymerase II core promoter sequence-specific DNA binding] GO:0001094[TFIID-class transcription factor complex binding] GO:0003678[DNA helicase activity] GO:0003714[transcription corepressor activity] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005829[cytosol] GO:0006275[regulation of DNA replication] GO:0006281[DNA repair] GO:0006282[regulation of DNA repair] GO:0006310[DNA recombination] GO:0006325[chromatin organization] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006457[protein folding] GO:0006974[cellular response to DNA damage stimulus] GO:0008013[beta-catenin binding] GO:0008094[ATP-dependent activity, acting on DNA] GO:0016020[membrane] GO:0016363[nuclear matrix] GO:0016573[histone acetylation] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0017025[TBP-class protein binding] GO:0031011[Ino80 complex] GO:0031490[chromatin DNA binding] GO:0032508[DNA duplex unwinding] GO:0033044[regulation of chromosome organization] GO:0034644[cellular response to UV] GO:0035066[positive regulation of histone acetylation] GO:0035267[NuA4 histone acetyltransferase complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0043531[ADP binding] GO:0043967[histone H4 acetylation] GO:0043968[histone H2A acetylation] GO:0045739[positive regulation of DNA repair] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0045995[regulation of embryonic development] GO:0050821[protein stabilization] GO:0051082[unfolded protein binding] GO:0051117[ATPase binding] GO:0051276[chromosome organization] GO:0051726[regulation of cell cycle] GO:0060382[regulation of DNA strand elongation] GO:0070062[extracellular exosome] GO:0071169[establishment of protein localization to chromatin] GO:0071339[MLL1 complex] GO:0071392[cellular response to estradiol stimulus] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0097255[R2TP complex] GO:0101031[chaperone complex] GO:0120293[dynein axonemal particle] GO:0140585[promoter-enhancer loop anchoring activity] GO:1904507[positive regulation of telomere maintenance in response to DNA damage] GO:1904874[positive regulation of telomerase RNA localization to Cajal body] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:1990062[RPAP3/R2TP/prefoldin-like complex] GO:1990904[ribonucleoprotein complex] GO:2000779[regulation of double-strand break repair]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
