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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).
Cancer-related genes Disease related genes Enzymes Human disease related genes 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
17
Cytoband
q23.2
Chromosome location (bp)
61679139 - 61863559
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability 1,2,3,4,5,6. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination 7,8. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 9,10. Involved in the repair of abasic sites at replication forks by promoting the degradation of DNA-protein cross-links: acts by catalyzing unfolding of HMCES DNA-protein cross-link via its helicase activity, exposing the underlying DNA and enabling cleavage of the DNA-protein adduct by the SPRTN metalloprotease 11,12. Can unwind RNA:DNA substrates 13. Unwinds G-quadruplex DNA; unwinding requires a 5'-single stranded tail 14,15....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Helicase, Hydrolase, Isomerase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [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.
Q9BX63 [Direct mapping] Fanconi anemia group J protein
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic 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:0000077[DNA damage checkpoint signaling] GO:0000166[nucleotide binding] GO:0003676[nucleic acid binding] GO:0003677[DNA binding] GO:0003678[DNA helicase activity] GO:0003682[chromatin binding] GO:0003724[RNA helicase activity] GO:0004386[helicase activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006139[nucleobase-containing compound metabolic process] GO:0006259[DNA metabolic process] GO:0006281[DNA repair] GO:0006289[nucleotide-excision repair] GO:0006302[double-strand break repair] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006974[cellular response to DNA damage stimulus] GO:0007129[homologous chromosome pairing at meiosis] GO:0007283[spermatogenesis] GO:0007284[spermatogonial cell division] GO:0007286[spermatid development] GO:0008285[negative regulation of cell population proliferation] GO:0008584[male gonad development] GO:0009636[response to toxic substance] GO:0010629[negative regulation of gene expression] GO:0010705[meiotic DNA double-strand break processing involved in reciprocal meiotic recombination] GO:0016787[hydrolase activity] GO:0016818[hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides] GO:0016887[ATP hydrolysis activity] GO:0031965[nuclear membrane] GO:0032508[DNA duplex unwinding] GO:0035825[homologous recombination] GO:0043139[5'-3' DNA helicase activity] GO:0046872[metal ion binding] GO:0051026[chiasma assembly] GO:0051276[chromosome organization] GO:0051536[iron-sulfur cluster binding] GO:0051539[4 iron, 4 sulfur cluster binding] GO:0070532[BRCA1-B complex] GO:0071295[cellular response to vitamin] GO:0071456[cellular response to hypoxia] GO:0072520[seminiferous tubule development] GO:1904385[cellular response to angiotensin] GO:1990918[double-strand break repair involved in meiotic recombination]
Q9BX63 [Direct mapping] Fanconi anemia group J protein
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
J3KS24 [Direct mapping] Fanconi anemia group J protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
J3QKX0 [Direct mapping] Fanconi anemia group J protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
J3KS24 [Direct mapping] Fanconi anemia group J protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Q9BX63 [Direct mapping] Fanconi anemia group J protein
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Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
A0A804HJV4 [Direct mapping] Fanconi anemia group J protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A804HK62 [Direct mapping] Fanconi anemia group J protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
Q9BX63 [Direct mapping] Fanconi anemia group J protein
Show all
Enzymes ENZYME proteins Hydrolases SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Potential drug targets Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
A0A804HL36 [Direct mapping] Fanconi anemia group J protein
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SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A804HHV8 [Direct mapping] Fanconi anemia group J protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
A0A804HKS0 [Direct mapping] Fanconi anemia group J protein
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Nonsense Mutations COSMIC Missense Mutations COSMIC Germline Mutations COSMIC Frameshift Mutations Human disease related genes Cancers Cancers of the breast and female genital organs Cardiovascular diseases Hematologic diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
