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DCX doublecortin [ Homo sapiens (human) ]

Gene ID: 1641, updated on 5-Aug-2018

Summary

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Official Symbol
DCXprovided by HGNC
Official Full Name
doublecortinprovided by HGNC
Primary source
HGNC:HGNC:2714
See related
Ensembl:ENSG00000077279 MIM:300121; Vega:OTTHUMG00000022204
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DC; DBCN; LISX; SCLH; XLIS
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, 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]
Expression
Biased expression in brain (RPKM 4.3) and endometrium (RPKM 1.0) See more
Orthologs
mouse all

Genomic context

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See DCX in Genome Data Viewer
Location:
Xq23
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (111293779..111412232, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110537007..110655460, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene glutamate dehydrogenase 1 pseudogene 9 Neighboring gene calpain 6 Neighboring gene RNA, U6 small nuclear 496, pseudogene Neighboring gene high mobility group box 1 pseudogene 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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Related articles in PubMed

  1. Doublecortin Is Excluded from Growing Microtubule Ends and Recognizes the GDP-Microtubule Lattice. Ettinger A, et al. Curr Biol, 2016 Jun 20. PMID 27238282, Free PMC Article
  2. Crystal Structures of the Human Doublecortin C- and N-terminal Domains in Complex with Specific Antibodies. Burger D, et al. J Biol Chem, 2016 Jul 29. PMID 27226599, Free PMC Article
  3. Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother. Takeshita S, et al. Pediatr Int, 2015 Apr. PMID 25868952
  4. A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human. Bourgeois F, et al. Neuromuscul Disord, 2015 Jun. PMID 25817838
  5. Doublecortin recognizes the longitudinal curvature of the microtubule end and lattice. Bechstedt S, et al. Curr Biol, 2014 Oct 20. PMID 25283777

See all (95) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  1. Age-associated expression of the proliferation and immature neuron markers MKI67 and DCX, respectively, was unrelated, suggesting that neurogenesis-associated processes are independently altered at these points in the development from stem cell to neuron.
    Title: Evidence for reduced neurogenesis in the aging human hippocampus despite stable stem cell markers.
  2. specifically recognizes compacted GDP-like microtubule lattice
    Title: Doublecortin Is Excluded from Growing Microtubule Ends and Recognizes the GDP-Microtubule Lattice.
  3. this suggests that the microtubule-interacting doublecortin domain observed in cryo-electron micrographs is the C-terminal domain rather than the N-terminal one.
    Title: Crystal Structures of the Human Doublecortin C- and N-terminal Domains in Complex with Specific Antibodies.
  4. From this family, we conclude that a DCX mutation causes a pleiotropic phenotype in the female even if X chromosome inactivation pattern is not skewed, and the novel missense mutation in DCX produced relatively mild dysfunction of the doublecortin protein.
    Title: Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother.
  5. We identified a novel DCX mutation c.785A > G, p.Asp262Gly in a family with X-linked lissencephaly and subcortical band heterotopia
    Title: A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.
  6. In high-risk metastatic Neuroblastoma, TH and DCX mRNA quantification could be used for the assessment of response to treatment and for early detection of progressive disease or relapses.
    Title: TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients.
  7. Results point to a critical role of doublecortin in the formation of the neuromuscular junctions.
    Title: A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.
  8. It was conclude that microtubule ends have two distinct features that proteins can recognize independently, namely a structural feature related to curvature and nucleotide state.
    Title: Doublecortin recognizes the longitudinal curvature of the microtubule end and lattice.
  9. DCX-positive cells occur in a wide range of hypothalamic nuclei in humans, mice and sheep.
    Title: DCX-expressing cells in the vicinity of the hypothalamic neurogenic niche: a comparative study between mouse, sheep, and human tissues.
  10. human DCX protein was expressed in human adipose stem cells, collagen II was decreased while aggrecan, matrilin 2, and GDF5 were increased during the 14-day pellet culture.
    Title: Doublecortin may play a role in defining chondrocyte phenotype.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Lissencephaly, X-linked
MedGen: C1848199 OMIM: 300067 GeneReviews: DCX-Related Disorders
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-06)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat induces hyperphosphorylation of neuronal migration protein doublecortin in neuronal cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • L1CAM interactions, organism-specific biosystem (from REACTOME)
    L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
  • Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem (from Pathway Interaction Database)
    Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem
    Lissencephaly gene (LIS1) in neuronal migration and development
  • Neurofascin interactions, organism-specific biosystem (from REACTOME)
    Neurofascin interactions, organism-specific biosystemNeurofascin is an L1 family immunoglobulin cell adhesion molecule involved in axon subcellular targeting and synapse formation during neural development. There are a range of different isoforms ident...

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ51296

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
microtubule binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
  
nervous system development TAS
Traceable Author Statement
more info
 PubMed 
neuron migration IDA
Inferred from Direct Assay
more info
 PubMed 
photoreceptor cell development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
retina development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
microtubule IEA
Inferred from Electronic Annotation
more info
  
microtubule associated complex TAS
Traceable Author Statement
more info
 PubMed 
neuron projection IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
neuronal migration protein doublecortin
Names
doublecortex
doublin
lis-X
lissencephalin-X

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011750.1 RefSeqGene

    Range
    4947..123400
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000555.3 → NP_000546.2  neuronal migration protein doublecortin isoform a

    See identical proteins and their annotated locations for NP_000546.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AJ003112, AL031117, AL450490, AW163329
    UniProtKB/Swiss-Prot
    O43602
    Conserved Domains (1) summary
    smart00537
    Location:129 → 219
    DCX; Domain in the Doublecortin (DCX) gene product

  2. NM_001195553.1 → NP_001182482.1  neuronal migration protein doublecortin isoform d

    See identical proteins and their annotated locations for NP_001182482.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' exon, resulting in a downstream AUG start codon, and an additional segment and additional 3 nts in two different 3' CDS regions respectively, as compared to variant 1. The resulting isoform (d) has a shorter N-terminus, and has an extra segment and an extra aa in two different C-terminal regions respectively, compared to isoform a.
    Source sequence(s)
    AK290455, AL031117, DA497601
    Consensus CDS
    CCDS83483.1
    UniProtKB/TrEMBL
    A8K340
    Related
    ENSP00000490614.1, OTTHUMP00000282360, ENST00000636035.1, OTTHUMT00000489901
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  3. NM_178151.2 → NP_835364.1  neuronal migration protein doublecortin isoform c

    See identical proteins and their annotated locations for NP_835364.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AF034634, AL031117, AW163329, DC375659
    Consensus CDS
    CCDS14557.1
    UniProtKB/Swiss-Prot
    O43602
    UniProtKB/TrEMBL
    H3BLV5
    Related
    ENSP00000361061.2, ENST00000371993.6
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  4. NM_178152.2 → NP_835365.1  neuronal migration protein doublecortin isoform b

    See identical proteins and their annotated locations for NP_835365.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' exon, resulting in a downstream AUG start codon, and has an additional segment in the 3' coding region, as compared to variant 1. The resulting isoform (b) has a shorter N-terminus and an extra internal segment compared to isoform a.
    Source sequence(s)
    AF040254, AL031117, AW163329, DA497601
    Consensus CDS
    CCDS14558.1
    UniProtKB/Swiss-Prot
    O43602
    Related
    ENSP00000489635.1, OTTHUMP00000282359, ENST00000635795.1, OTTHUMT00000489900
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  5. NM_178153.2 → NP_835366.1  neuronal migration protein doublecortin isoform c

    See identical proteins and their annotated locations for NP_835366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, resulting in a downstream AUG start codon, as compared to variant 1. The resulting isoform (c) has a shorter N-terminus compared to isoform a. Variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AL031117, AW163329, BC027925, DA497601
    Consensus CDS
    CCDS14557.1
    UniProtKB/Swiss-Prot
    O43602
    UniProtKB/TrEMBL
    H3BLV5
    Related
    ENSP00000419861.1, OTTHUMP00000023859, ENST00000488120.2, OTTHUMT00000057923
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    111293779..111412232 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530880.3 → XP_011529182.1  neuronal migration protein doublecortin isoform X4

    See identical proteins and their annotated locations for XP_011529182.1

    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  2. XM_011530878.3 → XP_011529180.1  neuronal migration protein doublecortin isoform X2

    See identical proteins and their annotated locations for XP_011529180.1

    UniProtKB/TrEMBL
    A0A1B0GWD1
    Related
    ENSP00000490878.1, OTTHUMP00000282361, ENST00000637570.1
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  3. XM_011530879.3 → XP_011529181.1  neuronal migration protein doublecortin isoform X3

    See identical proteins and their annotated locations for XP_011529181.1

    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product

  4. XM_017029312.2 → XP_016884801.1  neuronal migration protein doublecortin isoform X1

    UniProtKB/TrEMBL
    A8K340
    Related
    ENSP00000490357.1, OTTHUMP00000282354, ENST00000637453.1
    Conserved Domains (1) summary
    smart00537
    Location:48 → 138
    DCX; Domain in the Doublecortin (DCX) gene product
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43602.4 GenPept UniProtKB/Swiss-Prot:O43602

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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