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DCX doublecortin [ Homo sapiens (human) ]

Gene ID: 1641, updated on 4-Jul-2021

Summary

Official Symbol
DCXprovided by HGNC
Official Full Name
doublecortinprovided by HGNC
Primary source
HGNC:HGNC:2714
See related
Ensembl:ENSG00000077279 MIM:300121
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
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Genomic context

See DCX in Genome Data Viewer
Location:
Xq23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (111293779..111412205, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (110537007..110655420, 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

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Lissencephaly, X-linked
MedGen: C4551968 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

HIV-1 interactions

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ51296

Gene Ontology Provided by GOA

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

General protein information

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
    4987..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
    Conserved Domains (1) summary
    smart00537
    Location:129219
    DCX; Domain in the Doublecortin (DCX) gene product
  2. NM_001195553.2NP_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, ENST00000636035.2
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284343
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  3. NM_001369370.1NP_001356299.1  neuronal migration protein doublecortin isoform d

    Status: REVIEWED

    Source sequence(s)
    AL031117, AL450490
    Related
    ENSP00000490357.1, ENST00000637453.1
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284343
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  4. NM_001369371.1NP_001356300.1  neuronal migration protein doublecortin isoform b

    Status: REVIEWED

    Source sequence(s)
    AL031117, AL450490
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284343
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  5. NM_001369372.1NP_001356301.1  neuronal migration protein doublecortin isoform e

    Status: REVIEWED

    Source sequence(s)
    AL031117, AL450490
    Related
    ENSP00000490878.1, ENST00000637570.1
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284338
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  6. NM_001369373.1NP_001356302.1  neuronal migration protein doublecortin isoform f

    Status: REVIEWED

    Source sequence(s)
    AL031117, AL450490
    Related
    ENSP00000361061.3, ENST00000371993.7
    Conserved Domains (2) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
  7. NM_001369374.1NP_001356303.1  neuronal migration protein doublecortin isoform f

    Status: REVIEWED

    Source sequence(s)
    AL031117, AL450490
    Conserved Domains (2) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
  8. NM_178151.3NP_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, AL450490, AW163329, DC375659
    Consensus CDS
    CCDS14557.1
    UniProtKB/Swiss-Prot
    O43602
    UniProtKB/TrEMBL
    H3BLV5
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284338
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  9. NM_178152.3NP_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, ENST00000635795.1
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284343
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins
  10. NM_178153.3NP_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, ENST00000488120.2
    Conserved Domains (3) summary
    cd16112
    Location:51139
    DCX1_DCX; Dublecortin-like domain 1 found in neuronal migration protein doublecortin (DCX)
    cd17069
    Location:176259
    DCX2; Dublecortin-like domain 2
    cl40450
    Location:284338
    KLF8_12_N; N-terminal domain of Kruppel-like factor (KLF) 8, KLF12, and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    111293779..111412205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011529181.1

    Related
    ENSP00000505501.1, ENST00000680476.1
    Conserved Domains (1) summary
    smart00537
    Location:48138
    DCX; Domain in the Doublecortin (DCX) gene product
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