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Protein

Neuronal migration protein doublecortin

Gene

DCX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-447043. Neurofascin interactions.
SIGNORiO43602.

Names & Taxonomyi

Protein namesi
Recommended name:
Neuronal migration protein doublecortin
Alternative name(s):
Doublin
Lissencephalin-X
Short name:
Lis-X
Gene namesi
Name:DCX
Synonyms:DBCN, LISX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2714. DCX.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytoskeleton Source: ProtInc
  • cytosol Source: Reactome
  • dendrite Source: Ensembl
  • microtubule Source: UniProtKB-KW
  • microtubule associated complex Source: ProtInc
  • neuron projection Source: UniProtKB
  • nucleus Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Microtubule

Pathology & Biotechi

Involvement in diseasei

Lissencephaly, X-linked 1 (LISX1)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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'.
See also OMIM:300067
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421T → I in LISX1. 1 Publication
VAR_026022
Natural varianti43 – 431L → S in LISX1. 1 Publication
Corresponds to variant rs587783521 [ dbSNP | Ensembl ].
VAR_007819
Natural varianti47 – 471S → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894783 [ dbSNP | Ensembl ].
VAR_007820
Natural varianti59 – 591R → L in LISX1 and SBHX. 1 Publication
Corresponds to variant rs122457137 [ dbSNP | Ensembl ].
VAR_007821
Natural varianti60 – 601N → D in LISX1. 1 Publication
VAR_026024
Natural varianti62 – 621D → N in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894779 [ dbSNP | Ensembl ].
VAR_007823
Natural varianti71 – 711A → S in LISX1. 1 Publication
Corresponds to variant rs104894786 [ dbSNP | Ensembl ].
VAR_026026
Natural varianti100 – 1001G → A in LISX1 and SBHX. 2 Publications
VAR_007826
Natural varianti102 – 1021R → S in LISX1. 1 Publication
VAR_007827
Natural varianti125 – 1251Y → H in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894781 [ dbSNP | Ensembl ].
VAR_007828
Natural varianti192 – 1921R → W in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894780 [ dbSNP | Ensembl ].
VAR_007833
Natural varianti196 – 1961R → H in LISX1. 2 Publications
Corresponds to variant rs56030372 [ dbSNP | Ensembl ].
VAR_026031
Natural varianti203 – 2031T → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894782 [ dbSNP | Ensembl ].
VAR_007835
Natural varianti243 – 2431F → L in LISX1. 1 Publication
VAR_026036
Subcortical band heterotopia X-linked (SBHX)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSBHX 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.
See also OMIM:300067
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti47 – 471S → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894783 [ dbSNP | Ensembl ].
VAR_007820
Natural varianti50 – 501K → N in SBHX. 1 Publication
Corresponds to variant rs587783523 [ dbSNP | Ensembl ].
VAR_026023
Natural varianti59 – 591R → H in SBHX. 1 Publication
Corresponds to variant rs122457137 [ dbSNP | Ensembl ].
VAR_007822
Natural varianti59 – 591R → L in LISX1 and SBHX. 1 Publication
Corresponds to variant rs122457137 [ dbSNP | Ensembl ].
VAR_007821
Natural varianti62 – 621D → N in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894779 [ dbSNP | Ensembl ].
VAR_007823
Natural varianti67 – 671G → E in SBHX. 1 Publication
VAR_026025
Natural varianti78 – 781R → L in SBHX. 2 Publications
Corresponds to variant rs104894784 [ dbSNP | Ensembl ].
VAR_007824
Natural varianti86 – 861D → H in SBHX. 1 Publication
VAR_007825
Natural varianti89 – 891R → G in SBHX; mild. 2 Publications
Corresponds to variant rs104894785 [ dbSNP | Ensembl ].
VAR_010536
Natural varianti97 – 971L → R in SBHX. 1 Publication
Corresponds to variant rs587783537 [ dbSNP | Ensembl ].
VAR_026027
Natural varianti100 – 1001G → A in LISX1 and SBHX. 2 Publications
VAR_007826
Natural varianti104 – 1041I → T in SBHX. 1 Publication
VAR_026028
Natural varianti125 – 1251Y → D in SBHX. 1 Publication
VAR_007829
Natural varianti125 – 1251Y → H in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894781 [ dbSNP | Ensembl ].
VAR_007828
Natural varianti178 – 1781R → C in SBHX. 1 Publication
Corresponds to variant rs587783558 [ dbSNP | Ensembl ].
VAR_026029
Natural varianti178 – 1781R → L in SBHX.
Corresponds to variant rs587783559 [ dbSNP | Ensembl ].
VAR_007830
Natural varianti186 – 1861R → C in SBHX. 3 Publications
Corresponds to variant rs587783562 [ dbSNP | Ensembl ].
VAR_007831
Natural varianti191 – 1911P → L in SBHX.
VAR_026030
Natural varianti191 – 1911P → R in SBHX.
Corresponds to variant rs587783566 [ dbSNP | Ensembl ].
VAR_007832
Natural varianti192 – 1921R → W in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894780 [ dbSNP | Ensembl ].
VAR_007833
Natural varianti200 – 2001N → I in SBHX. 1 Publication
VAR_026033
Natural varianti200 – 2001N → K in SBHX. 2 Publications
VAR_007834
Natural varianti203 – 2031T → A in SBHX. 1 Publication
Corresponds to variant rs587783570 [ dbSNP | Ensembl ].
VAR_026034
Natural varianti203 – 2031T → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894782 [ dbSNP | Ensembl ].
VAR_007835
Natural varianti214 – 2141I → T in SBHX. 1 Publication
Corresponds to variant rs587783574 [ dbSNP | Ensembl ].
VAR_007836
Natural varianti222 – 2221T → I in SBHX.
VAR_007837
Natural varianti223 – 2231G → E in SBHX. 1 Publication
VAR_007838
Natural varianti223 – 2231G → V in SBHX. 1 Publication
VAR_026035
Natural varianti236 – 2361V → I in SBHX.
VAR_007839
Natural varianti250 – 2501I → N in SBHX.
VAR_007840
Natural varianti250 – 2501I → T in SBHX. 1 Publication
VAR_007841
Natural varianti251 – 2511A → S in SBHX. 1 Publication
Corresponds to variant rs587783585 [ dbSNP | Ensembl ].
VAR_026037
Natural varianti251 – 2511A → V in SBHX. 1 Publication
VAR_026038
Natural varianti253 – 2531G → D in SBHX.
VAR_007842

A chromosomal aberration involving DCX is found in lissencephaly. Translocation t(X;2)(q22.3;p25.1).

Keywords - Diseasei

Disease mutation, Epilepsy, Lissencephaly

Organism-specific databases

MalaCardsiDCX.
MIMi300067. phenotype.
Orphaneti2148. Lissencephaly type 1 due to doublecortin gene mutation.
99796. Subcortical band heterotopia.
PharmGKBiPA27184.

Polymorphism and mutation databases

BioMutaiDCX.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 365365Neuronal migration protein doublecortinPRO_0000079833Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei14 – 141Phosphothreonine; by PKCSequence analysis
Modified residuei28 – 281Phosphoserine; by CDK5By similarity
Modified residuei47 – 471Phosphoserine; by MARK1 and PKABy similarity
Modified residuei70 – 701Phosphotyrosine; by ABLSequence analysis
Modified residuei74 – 741Phosphoserine; by PKCSequence analysis
Modified residuei90 – 901Phosphoserine; by CK2Sequence analysis
Modified residuei110 – 1101Phosphoserine; by PKCSequence analysis
Modified residuei115 – 1151Phosphoserine; by CK2, MARK1 and PKABy similarity
Modified residuei265 – 2651Phosphoserine; by CK2By similarity
Modified residuei287 – 2871Phosphoserine; by CDK5By similarity
Modified residuei289 – 2891Phosphothreonine; by CDK5By similarity
Modified residuei294 – 2941Phosphoserine; by PKCSequence analysis
Modified residuei297 – 2971Phosphoserine; by CDK5By similarity
Modified residuei306 – 3061Phosphoserine; by CK2Sequence analysisBy similarity
Modified residuei306 – 3061Phosphoserine; by DYRK21 Publication
Modified residuei326 – 3261Phosphothreonine; by CDK5By similarity
Modified residuei326 – 3261Phosphothreonine; by PKC and MAPKSequence analysis
Modified residuei332 – 3321Phosphoserine; by CDK5By similarity
Modified residuei332 – 3321Phosphoserine; by MAPKSequence analysis
Modified residuei336 – 3361Phosphothreonine; by MAPKSequence analysis
Modified residuei339 – 3391Phosphoserine; by CDK5By similarity
Modified residuei339 – 3391Phosphoserine; by MAPKSequence analysis
Modified residuei342 – 3421Phosphoserine; by PKCSequence analysis
Modified residuei354 – 3541Phosphoserine; by CK2Sequence analysis
Modified residuei360 – 3601Phosphoserine; by CK2Sequence analysis

Post-translational modificationi

Phosphorylation by MARK1, MARK2 and PKA regulates its ability to bind microtubules.By similarity
Phosphorylation at Ser-265 and Ser-297 seems to occur only in neonatal brain, the levels falling precipitously by postnatal day 21.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO43602.
PaxDbiO43602.
PeptideAtlasiO43602.
PRIDEiO43602.

PTM databases

iPTMnetiO43602.
PhosphoSiteiO43602.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiENSG00000077279.
CleanExiHS_DCX.
ExpressionAtlasiO43602. baseline and differential.
GenevisibleiO43602. HS.

Organism-specific databases

HPAiHPA036121.
HPA059243.

Interactioni

Subunit structurei

Interacts with tubulin. Interacts with USP9X.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CALCOCO2Q131373EBI-8646694,EBI-739580
GOLGA2Q083794EBI-8646694,EBI-618309
IKZF1Q134224EBI-8646694,EBI-745305
KIFC3Q9BVG83EBI-8646694,EBI-2125614
KRT40Q6A1623EBI-8646694,EBI-10171697
KRTAP10-8P604103EBI-8646694,EBI-10171774
MEOX1P502213EBI-8646694,EBI-2864512
MID2Q9UJV3-23EBI-8646694,EBI-10172526
RINT1Q6NUQ13EBI-8646694,EBI-726876
SPAG5Q96R063EBI-8646694,EBI-413317
TINF2Q9BSI42EBI-8646694,EBI-717399
TRIM23P364063EBI-8646694,EBI-740098
TRIM27P143733EBI-8646694,EBI-719493
ZBTB5O150623EBI-8646694,EBI-722671

GO - Molecular functioni

  • calmodulin binding Source: GO_Central
  • microtubule binding Source: UniProtKB
  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108008. 41 interactions.
IntActiO43602. 17 interactions.
STRINGi9606.ENSP00000337697.

Structurei

Secondary structure

1
365
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi53 – 597Combined sources
Beta strandi68 – 725Combined sources
Turni74 – 763Combined sources
Beta strandi77 – 793Combined sources
Helixi80 – 9112Combined sources
Turni94 – 963Combined sources
Beta strandi103 – 1064Combined sources
Beta strandi110 – 1134Combined sources
Helixi116 – 1183Combined sources
Beta strandi124 – 1318Combined sources
Turni138 – 1414Combined sources
Turni144 – 1474Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1MJDNMR-A45-150[»]
2BQQX-ray2.20A45-150[»]
2XRPelectron microscopy8.20I46-140[»]
4ATUelectron microscopy8.30I2-365[»]
5IKCX-ray2.06M/N52-140[»]
5IN7X-ray2.48A/B46-150[»]
5IO9X-ray1.30A/B52-149[»]
5IOIX-ray2.40A/B/C/D/E/F52-150[»]
5IP4X-ray1.81D/E170-260[»]
ProteinModelPortaliO43602.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO43602.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini53 – 13987Doublecortin 1PROSITE-ProRule annotationAdd
BLAST
Domaini180 – 26384Doublecortin 2PROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi287 – 36579Pro/Ser-richAdd
BLAST

Sequence similaritiesi

Contains 2 doublecortin domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
GeneTreeiENSGT00840000129744.
HOVERGENiHBG003790.
InParanoidiO43602.
KOiK16579.
OrthoDBiEOG091G02RF.
TreeFamiTF318770.

Family and domain databases

CDDicd01617. DCX. 2 hits.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR020636. Ca/CaM-dep_Ca-dep_prot_Kinase.
IPR017302. Doublecortin_chordata.
IPR003533. Doublecortin_dom.
[Graphical view]
PANTHERiPTHR24347. PTHR24347. 1 hit.
PfamiPF03607. DCX. 2 hits.
[Graphical view]
PIRSFiPIRSF037870. Doublin. 1 hit.
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: O43602-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MELDFGHFDE RDKTSRNMRG SRMNGLPSPT HSAHCSFYRT RTLQALSNEK
60 70 80 90 100
KAKKVRFYRN GDRYFKGIVY AVSSDRFRSF DALLADLTRS LSDNINLPQG
110 120 130 140 150
VRYIYTIDGS RKIGSMDELE EGESYVCSSD NFFKKVEYTK NVNPNWSVNV
160 170 180 190 200
KTSANMKAPQ SLASSNSAQA RENKDFVRPK LVTIIRSGVK PRKAVRVLLN
210 220 230 240 250
KKTAHSFEQV LTDITEAIKL ETGVVKKLYT LDGKQVTCLH DFFGDDDVFI
260 270 280 290 300
ACGPEKFRYA QDDFSLDENE CRVMKGNPSA TAGPKASPTP QKTSAKSPGP
310 320 330 340 350
MRRSKSPADS GNDQDANGTS SSQLSTPKSK QSPISTPTSP GSLRKHKDLY
360
LPLSLDDSDS LGDSM
Length:365
Mass (Da):40,574
Last modified:March 16, 2016 - v4
Checksum:i1E859F2114CC3BB1
GO
Isoform 2 (identifier: O43602-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     310-315: SGNDQD → S

Show »
Length:360
Mass (Da):40,044
Checksum:i91D0D89433AF52A0
GO

Sequence cautioni

The sequence EAX02642 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence EAX02644 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence EAX02649 differs from that shown. Reason: Erroneous gene model prediction. Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421T → I in LISX1. 1 Publication
VAR_026022
Natural varianti43 – 431L → S in LISX1. 1 Publication
Corresponds to variant rs587783521 [ dbSNP | Ensembl ].
VAR_007819
Natural varianti47 – 471S → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894783 [ dbSNP | Ensembl ].
VAR_007820
Natural varianti50 – 501K → N in SBHX. 1 Publication
Corresponds to variant rs587783523 [ dbSNP | Ensembl ].
VAR_026023
Natural varianti59 – 591R → H in SBHX. 1 Publication
Corresponds to variant rs122457137 [ dbSNP | Ensembl ].
VAR_007822
Natural varianti59 – 591R → L in LISX1 and SBHX. 1 Publication
Corresponds to variant rs122457137 [ dbSNP | Ensembl ].
VAR_007821
Natural varianti60 – 601N → D in LISX1. 1 Publication
VAR_026024
Natural varianti62 – 621D → N in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894779 [ dbSNP | Ensembl ].
VAR_007823
Natural varianti67 – 671G → E in SBHX. 1 Publication
VAR_026025
Natural varianti71 – 711A → S in LISX1. 1 Publication
Corresponds to variant rs104894786 [ dbSNP | Ensembl ].
VAR_026026
Natural varianti78 – 781R → H in SBH. 1 Publication
Corresponds to variant rs104894784 [ dbSNP | Ensembl ].
VAR_010202
Natural varianti78 – 781R → L in SBHX. 2 Publications
Corresponds to variant rs104894784 [ dbSNP | Ensembl ].
VAR_007824
Natural varianti86 – 861D → H in SBHX. 1 Publication
VAR_007825
Natural varianti89 – 891R → G in SBHX; mild. 2 Publications
Corresponds to variant rs104894785 [ dbSNP | Ensembl ].
VAR_010536
Natural varianti97 – 971L → R in SBHX. 1 Publication
Corresponds to variant rs587783537 [ dbSNP | Ensembl ].
VAR_026027
Natural varianti100 – 1001G → A in LISX1 and SBHX. 2 Publications
VAR_007826
Natural varianti102 – 1021R → S in LISX1. 1 Publication
VAR_007827
Natural varianti104 – 1041I → T in SBHX. 1 Publication
VAR_026028
Natural varianti125 – 1251Y → D in SBHX. 1 Publication
VAR_007829
Natural varianti125 – 1251Y → H in LISX1 and SBHX. 1 Publication
Corresponds to variant rs104894781 [ dbSNP | Ensembl ].
VAR_007828
Natural varianti178 – 1781R → C in SBHX. 1 Publication
Corresponds to variant rs587783558 [ dbSNP | Ensembl ].
VAR_026029
Natural varianti178 – 1781R → L in SBHX.
Corresponds to variant rs587783559 [ dbSNP | Ensembl ].
VAR_007830
Natural varianti186 – 1861R → C in SBHX. 3 Publications
Corresponds to variant rs587783562 [ dbSNP | Ensembl ].
VAR_007831
Natural varianti191 – 1911P → L in SBHX.
VAR_026030
Natural varianti191 – 1911P → R in SBHX.
Corresponds to variant rs587783566 [ dbSNP | Ensembl ].
VAR_007832
Natural varianti192 – 1921R → W in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894780 [ dbSNP | Ensembl ].
VAR_007833
Natural varianti196 – 1961R → H in LISX1. 2 Publications
Corresponds to variant rs56030372 [ dbSNP | Ensembl ].
VAR_026031
Natural varianti196 – 1961R → S in epilepsy; resistant partial seizures; related to 'cryptogenic' epilepsy. 1 Publication
Corresponds to variant rs587783568 [ dbSNP | Ensembl ].
VAR_026032
Natural varianti200 – 2001N → I in SBHX. 1 Publication
VAR_026033
Natural varianti200 – 2001N → K in SBHX. 2 Publications
VAR_007834
Natural varianti203 – 2031T → A in SBHX. 1 Publication
Corresponds to variant rs587783570 [ dbSNP | Ensembl ].
VAR_026034
Natural varianti203 – 2031T → R in LISX1 and SBHX. 2 Publications
Corresponds to variant rs104894782 [ dbSNP | Ensembl ].
VAR_007835
Natural varianti214 – 2141I → T in SBHX. 1 Publication
Corresponds to variant rs587783574 [ dbSNP | Ensembl ].
VAR_007836
Natural varianti222 – 2221T → I in SBHX.
VAR_007837
Natural varianti223 – 2231G → E in SBHX. 1 Publication
VAR_007838
Natural varianti223 – 2231G → V in SBHX. 1 Publication
VAR_026035
Natural varianti236 – 2361V → I in SBHX.
VAR_007839
Natural varianti243 – 2431F → L in LISX1. 1 Publication
VAR_026036
Natural varianti250 – 2501I → N in SBHX.
VAR_007840
Natural varianti250 – 2501I → T in SBHX. 1 Publication
VAR_007841
Natural varianti251 – 2511A → S in SBHX. 1 Publication
Corresponds to variant rs587783585 [ dbSNP | Ensembl ].
VAR_026037
Natural varianti251 – 2511A → V in SBHX. 1 Publication
VAR_026038
Natural varianti253 – 2531G → D in SBHX.
VAR_007842

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei310 – 3156SGNDQD → S in isoform 2. 4 PublicationsVSP_058155

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ003112 mRNA. Translation: CAA05867.1.
AJ005592
, AJ005593, AJ005594, AJ005595, AJ005596, AJ005597 Genomic DNA. Translation: CAA06617.1.
AF034634 mRNA. Translation: AAC52037.1.
AF040254 mRNA. Translation: AAC31797.1.
AF040255 mRNA. Translation: AAC31696.1.
AL031117 Genomic DNA. No translation available.
AL450490 Genomic DNA. No translation available.
CH471120 Genomic DNA. Translation: EAX02644.1. Sequence problems.
CH471120 Genomic DNA. Translation: EAX02645.1.
CH471120 Genomic DNA. Translation: EAX02642.1. Sequence problems.
CH471120 Genomic DNA. Translation: EAX02643.1.
CH471120 Genomic DNA. Translation: EAX02646.1.
CH471120 Genomic DNA. Translation: EAX02647.1.
CH471120 Genomic DNA. Translation: EAX02649.1. Sequence problems.
BC027925 mRNA. Translation: AAH27925.1.
CCDSiCCDS14557.1. [O43602-2]
CCDS14558.1. [O43602-1]
RefSeqiNP_000546.2. NM_000555.3.
NP_835364.1. NM_178151.2. [O43602-2]
NP_835365.1. NM_178152.2. [O43602-1]
NP_835366.1. NM_178153.2. [O43602-2]
UniGeneiHs.34780.

Genome annotation databases

EnsembliENST00000356220; ENSP00000348553; ENSG00000077279. [O43602-1]
ENST00000371993; ENSP00000361061; ENSG00000077279. [O43602-2]
ENST00000488120; ENSP00000419861; ENSG00000077279. [O43602-2]
GeneIDi1641.
KEGGihsa:1641.
UCSCiuc004epd.4. human. [O43602-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ003112 mRNA. Translation: CAA05867.1.
AJ005592
, AJ005593, AJ005594, AJ005595, AJ005596, AJ005597 Genomic DNA. Translation: CAA06617.1.
AF034634 mRNA. Translation: AAC52037.1.
AF040254 mRNA. Translation: AAC31797.1.
AF040255 mRNA. Translation: AAC31696.1.
AL031117 Genomic DNA. No translation available.
AL450490 Genomic DNA. No translation available.
CH471120 Genomic DNA. Translation: EAX02644.1. Sequence problems.
CH471120 Genomic DNA. Translation: EAX02645.1.
CH471120 Genomic DNA. Translation: EAX02642.1. Sequence problems.
CH471120 Genomic DNA. Translation: EAX02643.1.
CH471120 Genomic DNA. Translation: EAX02646.1.
CH471120 Genomic DNA. Translation: EAX02647.1.
CH471120 Genomic DNA. Translation: EAX02649.1. Sequence problems.
BC027925 mRNA. Translation: AAH27925.1.
CCDSiCCDS14557.1. [O43602-2]
CCDS14558.1. [O43602-1]
RefSeqiNP_000546.2. NM_000555.3.
NP_835364.1. NM_178151.2. [O43602-2]
NP_835365.1. NM_178152.2. [O43602-1]
NP_835366.1. NM_178153.2. [O43602-2]
UniGeneiHs.34780.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1MJDNMR-A45-150[»]
2BQQX-ray2.20A45-150[»]
2XRPelectron microscopy8.20I46-140[»]
4ATUelectron microscopy8.30I2-365[»]
5IKCX-ray2.06M/N52-140[»]
5IN7X-ray2.48A/B46-150[»]
5IO9X-ray1.30A/B52-149[»]
5IOIX-ray2.40A/B/C/D/E/F52-150[»]
5IP4X-ray1.81D/E170-260[»]
ProteinModelPortaliO43602.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108008. 41 interactions.
IntActiO43602. 17 interactions.
STRINGi9606.ENSP00000337697.

PTM databases

iPTMnetiO43602.
PhosphoSiteiO43602.

Polymorphism and mutation databases

BioMutaiDCX.

Proteomic databases

MaxQBiO43602.
PaxDbiO43602.
PeptideAtlasiO43602.
PRIDEiO43602.

Protocols and materials databases

DNASUi1641.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356220; ENSP00000348553; ENSG00000077279. [O43602-1]
ENST00000371993; ENSP00000361061; ENSG00000077279. [O43602-2]
ENST00000488120; ENSP00000419861; ENSG00000077279. [O43602-2]
GeneIDi1641.
KEGGihsa:1641.
UCSCiuc004epd.4. human. [O43602-1]

Organism-specific databases

CTDi1641.
GeneCardsiDCX.
GeneReviewsiDCX.
HGNCiHGNC:2714. DCX.
HPAiHPA036121.
HPA059243.
MalaCardsiDCX.
MIMi300067. phenotype.
300121. gene.
neXtProtiNX_O43602.
Orphaneti2148. Lissencephaly type 1 due to doublecortin gene mutation.
99796. Subcortical band heterotopia.
PharmGKBiPA27184.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3757. Eukaryota.
ENOG410ZE6Q. LUCA.
GeneTreeiENSGT00840000129744.
HOVERGENiHBG003790.
InParanoidiO43602.
KOiK16579.
OrthoDBiEOG091G02RF.
TreeFamiTF318770.

Enzyme and pathway databases

ReactomeiR-HSA-447043. Neurofascin interactions.
SIGNORiO43602.

Miscellaneous databases

ChiTaRSiDCX. human.
EvolutionaryTraceiO43602.
GeneWikiiDoublecortin.
GenomeRNAii1641.
PROiO43602.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000077279.
CleanExiHS_DCX.
ExpressionAtlasiO43602. baseline and differential.
GenevisibleiO43602. HS.

Family and domain databases

CDDicd01617. DCX. 2 hits.
Gene3Di3.10.20.230. 2 hits.
InterProiIPR020636. Ca/CaM-dep_Ca-dep_prot_Kinase.
IPR017302. Doublecortin_chordata.
IPR003533. Doublecortin_dom.
[Graphical view]
PANTHERiPTHR24347. PTHR24347. 1 hit.
PfamiPF03607. DCX. 2 hits.
[Graphical view]
PIRSFiPIRSF037870. Doublin. 1 hit.
SMARTiSM00537. DCX. 2 hits.
[Graphical view]
PROSITEiPS50309. DC. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDCX_HUMAN
AccessioniPrimary (citable) accession number: O43602
Secondary accession number(s): A6NFY6
, A9Z1V8, D3DUY8, D3DUY9, D3DUZ0, O43911, Q5JYZ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: March 16, 2016
Last modified: September 7, 2016
This is version 170 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.