Description: Homo sapiens doublecortin (DCX), transcript variant 3, mRNA. RefSeq Summary (NM_178153): 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, cognitive disability, 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]. Transcript (Including UTRs) Position: hg19 chrX:110,537,007-110,655,460 Size: 118,454 Total Exon Count: 7 Strand: - Coding Region Position: hg19 chrX:110,544,915-110,653,626 Size: 108,712 Coding Exon Count: 6
ID:DCX_HUMAN DESCRIPTION: RecName: Full=Neuronal migration protein doublecortin; AltName: Full=Doublin; AltName: Full=Lissencephalin-X; Short=Lis-X; FUNCTION: Microtubule-associated protein required for initial steps of neuronal dispersion and cortex lamination during cerebral cortex development. May act by competing with the putative neuronal protein kinase DCAMKL1 in binding to a target protein. May in that way participate in a signaling pathway that is crucial for neuronal interaction before and during migration, possibly as part of a calcium ion-dependent signal transduction pathway. May be part with LIS-1 of a overlapping, but distinct, signaling pathways that promote neuronal migration. SUBUNIT: Interacts with tubulin. SUBCELLULAR LOCATION: Cytoplasm. Cell projection (By similarity). Note=Localizes at neurite tips (By similarity). TISSUE SPECIFICITY: Highly expressed in neuronal cells of fetal brain (in the majority of cells of the cortical plate, intermediate zone and ventricular zone), but not expressed in other fetal tissues. In the adult, highly expressed in the brain frontal lobe, but very low expression in other regions of brain, and not detected in heart, placenta, lung, liver, skeletal muscles, kidney and pancreas. PTM: Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind mirotubules (By similarity). DISEASE: Defects in DCX are the cause of lissencephaly X-linked type 1 (LISX1) [MIM:300067]; also called X-LIS or LIS. LISX1 is a classic lissencephaly characterized by mental retardation and seizures that are more severe in male patients. Affected boys show an abnormally thick cortex with absent or severely reduced gyri. Clinical manifestations include feeding problems, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe phenotype referred to as 'doublecortex'. DISEASE: Defects in DCX are the cause of subcortical band heterotopia X-linked (SBHX) [MIM:300067]; also known as double cortex or subcortical laminar heterotopia (SCLH). SBHX is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal. DISEASE: Note=A chromosomal aberration involving DCX is found in lissencephaly. Translocation t(X;2)(q22.3;p25.1). SIMILARITY: Contains 2 doublecortin domains. SEQUENCE CAUTION: Sequence=CAI39489.1; Type=Erroneous initiation; Sequence=CAI43156.1; Type=Erroneous initiation; Sequence=EAX02644.1; Type=Erroneous initiation; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DCX";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43602
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001764 neuron migration GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0007417 central nervous system development GO:0030154 cell differentiation GO:0035556 intracellular signal transduction
US Server
