InnateDB Protein
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IDBP-481183.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DCX
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Protein Name
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doublecortin
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Synonyms
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DBCN; DC; LISX; SCLH; XLIS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000419861
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InnateDB Gene
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IDBG-82703 (DCX)
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Protein Structure
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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}.
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Subcellular Localization |
Cytoplasm. Cell projection {ECO:0000250}. Note=Localizes at neurite tips. {ECO:0000250}.
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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).
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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.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
19
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
4 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003533
Doublecortin domain
IPR017302
Neuronal migration protein doublecortin, chordata
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PFAM |
PF03607
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PRINTS |
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PIRSF |
PIRSF037870
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SMART |
SM00537
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TIGRFAMs |
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Modification |
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SwissProt |
O43602
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PhosphoSite |
PhosphoSite-O43602
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TrEMBL |
E7EU50
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UniProt Splice Variant |
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Entrez Gene |
1641
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UniGene |
Hs.607729
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RefSeq |
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HUGO |
HGNC:2714
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OMIM |
300121
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CCDS |
CCDS14557
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HPRD |
02127
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IMGT |
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EMBL |
AF034634
AF040254
AF040255
AJ003112
AJ005592
AJ005593
AJ005594
AJ005595
AJ005596
AJ005597
AL031117
AL450490
BC027925
CH471120
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GenPept |
AAC31696
AAC31797
AAC52037
AAH27925
CAA05867
CAA06617
CAA19966
CAI39488
CAI39489
CAI43156
EAX02642
EAX02643
EAX02644
EAX02645
EAX02646
EAX02647
EAX02649
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