We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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).
Cancer-related genes Disease related genes Enzymes Human disease related genes Potential drug targets Transcription factors
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
X
Cytoband
q21.1
Chromosome location (bp)
77504880 - 77786233
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in transcriptional regulation and chromatin remodeling. Facilitates DNA replication in multiple cellular environments and is required for efficient replication of a subset of genomic loci. Binds to DNA tandem repeat sequences in both telomeres and euchromatin and in vitro binds DNA quadruplex structures. May help stabilizing G-rich regions into regular chromatin structures by remodeling G4 DNA and incorporating H3.3-containing nucleosomes. Catalytic component of the chromatin remodeling complex ATRX:DAXX which has ATP-dependent DNA translocase activity and catalyzes the replication-independent deposition of histone H3.3 in pericentric DNA repeats outside S-phase and telomeres, and the in vitro remodeling of H3.3-containing nucleosomes. Its heterochromatin targeting is proposed to involve a combinatorial readout of histone H3 modifications (specifically methylation states of H3K9 and H3K4) and association with CBX5. Involved in maintaining telomere structural integrity in embryonic stem cells which probably implies recruitment of CBX5 to telomeres. Reports on the involvement in transcriptional regulation of telomeric repeat-containing RNA (TERRA) are conflicting; according to a report, it is not sufficient to decrease chromatin condensation at telomeres nor to increase expression of telomeric RNA in fibroblasts 1. May be involved in telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines. Acts as a negative regulator of chromatin incorporation of transcriptionally repressive histone MACROH2A1, particularily at telomeres and the alpha-globin cluster in erythroleukemic cells. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, required for the chromatin occupancy of SMC1 and CTCTF within the H19 imprinting control region (ICR) and involved in esatblishment of histone tails modifications in the ICR. May be involved in brain development and facial morphogenesis. Binds to zinc-finger coding genes with atypical chromatin signatures and regulates its H3K9me3 levels. Forms a complex with ZNF274, TRIM28 and SETDB1 to facilitate the deposition and maintenance of H3K9me3 at the 3' exons of zinc-finger genes 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 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 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.
A4LAA3 [Target identity:100%; Query identity:100%] DNA helicase
Show all
Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000212[meiotic spindle organization] GO:0000228[nuclear chromosome] GO:0000779[condensed chromosome, centromeric region] GO:0000781[chromosome, telomeric region] GO:0000792[heterochromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005721[pericentric heterochromatin] GO:0006281[DNA repair] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006334[nucleosome assembly] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006366[transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007283[spermatogenesis] GO:0010571[positive regulation of nuclear cell cycle DNA replication] GO:0015616[DNA translocase activity] GO:0016604[nuclear body] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0030900[forebrain development] GO:0031297[replication fork processing] GO:0031490[chromatin DNA binding] GO:0031509[subtelomeric heterochromatin formation] GO:0032206[positive regulation of telomere maintenance] GO:0035064[methylated histone binding] GO:0035128[post-embryonic forelimb morphogenesis] GO:0035264[multicellular organism growth] GO:0042393[histone binding] GO:0043231[intracellular membrane-bounded organelle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0060009[Sertoli cell development] GO:0070087[chromo shadow domain binding] GO:0070192[chromosome organization involved in meiotic cell cycle] GO:0070198[protein localization to chromosome, telomeric region] GO:0072520[seminiferous tubule development] GO:0072711[cellular response to hydroxyurea] GO:0099115[chromosome, subtelomeric region] GO:0140658[ATP-dependent chromatin remodeler activity] GO:1901582[positive regulation of telomeric RNA transcription from RNA pol II promoter] GO:1904908[negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric]
Enzymes ENZYME proteins Hydrolases SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0000781[chromosome, telomeric region] GO:0000792[heterochromatin] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005694[chromosome] GO:0005721[pericentric heterochromatin] GO:0006281[DNA repair] GO:0006306[DNA methylation] GO:0006325[chromatin organization] GO:0006334[nucleosome assembly] GO:0006338[chromatin remodeling] GO:0006355[regulation of DNA-templated transcription] GO:0006974[cellular response to DNA damage stimulus] GO:0010571[positive regulation of nuclear cell cycle DNA replication] GO:0015616[DNA translocase activity] GO:0016604[nuclear body] GO:0016605[PML body] GO:0016787[hydrolase activity] GO:0016887[ATP hydrolysis activity] GO:0030330[DNA damage response, signal transduction by p53 class mediator] GO:0031297[replication fork processing] GO:0031490[chromatin DNA binding] GO:0031509[subtelomeric heterochromatin formation] GO:0032206[positive regulation of telomere maintenance] GO:0035064[methylated histone binding] GO:0042393[histone binding] GO:0043231[intracellular membrane-bounded organelle] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0070087[chromo shadow domain binding] GO:0070198[protein localization to chromosome, telomeric region] GO:0072711[cellular response to hydroxyurea] GO:0099115[chromosome, subtelomeric region] GO:0140658[ATP-dependent chromatin remodeler activity] GO:1901582[positive regulation of telomeric RNA transcription from RNA pol II promoter] GO:1904908[negative regulation of maintenance of mitotic sister chromatid cohesion, telomeric]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the digestive system Cardiovascular diseases Hematologic diseases Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
