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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.
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
10
Cytoband
q21.2
Chromosome location (bp)
62374192 - 62480288
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 the regulation of neurogenesis. Negatively regulates neurite outgrowth 1. Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) by HR. Is required for recovery of stalled replication forks, and directly contributes to genomic stability. Interacts with PARP1 and mediates MRE11-dependent DNA end resection during replication fork recovery 2. Contributes to genomic stability by preventing telomere dysfunction 3....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Neurogenesis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000723[telomere maintenance] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0007399[nervous system development] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0010975[regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0021687[cerebellar molecular layer morphogenesis] GO:0042802[identical protein binding] GO:0046872[metal ion binding] GO:0048714[positive regulation of oligodendrocyte differentiation] GO:0060997[dendritic spine morphogenesis] GO:0110026[regulation of DNA strand resection involved in replication fork processing] GO:0140059[dendrite arborization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000723[telomere maintenance] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0005815[microtubule organizing center] GO:0005856[cytoskeleton] GO:0007399[nervous system development] GO:0010569[regulation of double-strand break repair via homologous recombination] GO:0010975[regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0021687[cerebellar molecular layer morphogenesis] GO:0046872[metal ion binding] GO:0048714[positive regulation of oligodendrocyte differentiation] GO:0060997[dendritic spine morphogenesis] GO:0110026[regulation of DNA strand resection involved in replication fork processing] GO:0140059[dendrite arborization]
The Human Protein Atlas project is funded
