InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DCX

Summary

InnateDB Protein

IDBP-481183.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DCX

Protein Name

doublecortin

Synonyms

DBCN; DC; LISX; SCLH; XLIS;

Species

Homo sapiens

Ensembl Protein

ENSP00000419861

InnateDB Gene

IDBG-82703 (DCX)

Protein Structure

UniProt Annotation

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 DCLK1 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 PAFAH1B1/LIS-1 of overlapping, but distinct, signaling pathways that promote neuronal migration. {ECO:0000269PubMed:22359282}.

Subcellular Localization

Cytoplasm. Cell projection {ECO:0000250}. Note=Localizes at neurite tips. {ECO:0000250}.

Disease Associations

Lissencephaly, X-linked 1 (LISX1) [MIM:300067]: 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'. {ECO:0000269PubMed:11468322, ECO:0000269PubMed:12552055, ECO:0000269PubMed:9489699, ECO:0000269PubMed:9489700, ECO:0000269PubMed:9668176, ECO:0000269PubMed:9817918}. Note=The disease is caused by mutations affecting the gene represented in this entry.Subcortical band heterotopia X-linked (SBHX) [MIM:300067]: 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. {ECO:0000269PubMed:10369164, ECO:0000269PubMed:10441340, ECO:0000269PubMed:10807542, ECO:0000269PubMed:11175293, ECO:0000269PubMed:11601509, ECO:0000269PubMed:12390976, ECO:0000269PubMed:9618162, ECO:0000269PubMed:9989615}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving DCX is found in lissencephaly. Translocation t(X;2)(q22.3;p25.1).

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.

Comments

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.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding
GO:0019901	protein kinase binding

Biological Process

GO:0001764	neuron migration
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0035556	intracellular signal transduction