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    DCX doublecortin [ Homo sapiens (human) ]

    Gene ID: 1641, updated on 25-Jul-2016
    Official Symbol
    DCXprovided by HGNC
    Official Full Name
    doublecortinprovided by HGNC
    Primary source
    HGNC:HGNC:2714
    See related
    Ensembl:ENSG00000077279 HPRD:02127; 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, 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]
    Orthologs
    Location:
    Xq22.3-q23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 high mobility group box 1 pseudogene 12 Neighboring gene long intergenic non-protein coding RNA 890

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Lissencephaly, X-linked
    MedGen: C1848199 OMIM: 300067 GeneReviews: DCX-Related Disorders
    Compare labs

    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

    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

    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ51296

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-dependent protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calmodulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calmodulin-dependent protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule binding IDA
    Inferred from Direct Assay
    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
    axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    central nervous system projection neuron axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    layer formation in cerebral cortex 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 
    peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein autophosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    pyramidal neuron development IEA
    Inferred from Electronic Annotation
    more info
     
    response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    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 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    neuronal migration protein doublecortin
    Names
    doublecortex
    doublin
    lis-X
    lissencephalin-X

    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_000555.3NP_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
      UniProtKB/TrEMBL
      A0A140LJL1
      Related
      ENSP00000337697, OTTHUMP00000216315, ENST00000338081, OTTHUMT00000357058
      Conserved Domains (1) summary
      cd01617
      Location:134216
      DCX; Ubiquitin-like domain of DCX
    2. NM_001195553.1NP_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
      UniProtKB/TrEMBL
      A8K340
      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    3. NM_178151.2NP_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
      Related
      ENSP00000361061, ENST00000371993
      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    4. NM_178152.2NP_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
      ENSP00000348553, OTTHUMP00000216316, ENST00000356220, OTTHUMT00000057926
      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    5. NM_178153.2NP_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
      Related
      ENSP00000419861, OTTHUMP00000023859, ENST00000488120, OTTHUMT00000057923
      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011530880.2XP_011529182.1  

      See identical proteins and their annotated locations for XP_011529182.1

      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    2. XM_011530878.2XP_011529180.1  

      See identical proteins and their annotated locations for XP_011529180.1

      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    3. XM_011530879.2XP_011529181.1  

      See identical proteins and their annotated locations for XP_011529181.1

      Conserved Domains (1) summary
      cd01617
      Location:53135
      DCX; Ubiquitin-like domain of DCX
    4. XM_017029312.1XP_016884801.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      110448522..110566950 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)