Homo sapiens Gene: DCX | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Gene | IDBG-82703.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DCX | ||||||||||||||||||||||
Gene Name | doublecortin | ||||||||||||||||||||||
Synonyms | DBCN; DC; LISX; SCLH; XLIS | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Gene | ENSG00000077279 | ||||||||||||||||||||||
Encoded Proteins |
doublecortin
doublecortin
doublecortin
doublecortin
doublecortin
doublecortin
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Protein Structure | |||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
Summary |
This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] This gene encodes a member of the doublecortin family. The protein encoded by this gene is a cytoplasmic protein and contains two doublecortin domains, which bind microtubules. In the developing cortex, cortical neurons must migrate over long distances to reach the site of their final differentiation. The encoded protein appears to direct neuronal migration by regulating the organization and stability of microtubules. In addition, the encoded protein interacts with LIS1, the regulatory gamma subunit of platelet activating factor acetylhydrolase, and this interaction is important to proper microtubule function in the developing cortex. Mutations in this gene cause abnormal migration of neurons during development and disrupt the layering of the cortex, leading to epilepsy, mental retardation, subcortical band heterotopia ("double cortex" syndrome) in females and lissencephaly ("smooth brain" syndrome) in males. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome X:111293780-111412375 | ||||||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||||||
Band | q23 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Neurofascin interactions pathway
L1CAM interactions pathway
Developmental Biology pathway
Axon guidance pathway
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
PID NCI |
Lissencephaly gene (LIS1) in neuronal migration and development
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.34780 Hs.607729 | ||||||||||||||||||||||
RefSeq | NM_000555 NM_001195553 NM_178151 NM_178152 NM_178153 XM_005262091 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS14556 CCDS14557 CCDS14558 | ||||||||||||||||||||||
HPRD | 02127 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||