Human Gene DIXDC1 (uc001pml.3) Description and Page Index
  Description: Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.
RefSeq Summary (NM_001037954): The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013].
Transcript (Including UTRs)
   Position: hg19 chr11:111,807,927-111,893,307 Size: 85,381 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr11:111,808,224-111,889,760 Size: 81,537 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:111,807,927-111,893,307)mRNA (may differ from genome)Protein (683 aa)
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-  Comments and Description Text from UniProtKB
  ID: DIXC1_HUMAN
DESCRIPTION: RecName: Full=Dixin; AltName: Full=Coiled-coil protein DIX1; Short=Coiled-coil-DIX1; AltName: Full=DIX domain-containing protein 1;
FUNCTION: Positive effector of the Wnt signaling pathway; activates WNT3A signaling via DVL2. Regulates JNK activation by AXIN1 and DVL2.
SUBUNIT: Isoform 1 but not isoform 2 binds filamentous actin. Interacts with the complex composed of DVL2 and Rac. Interacts with AXIN1; competes with MAP3K1. Interacts with MAP3K4 preventing MAP3K4 interaction with AXIN1. Directly interacts (via DIX domain) with DVL2 (via DIX domain). Interacts with gamma-tubulin.
INTERACTION: Q60838:Dvl2 (xeno); NbExp=4; IntAct=EBI-1104700, EBI-641940;
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Note=Colocalizes with gamma-tubulin at the centrosome, both during interphase and mitosis.
SUBCELLULAR LOCATION: Isoform 1: Cell junction, focal adhesion. Note=Associated with actin stress fiber at the filament ends.
SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed with higher expression in cardiac and skeletal muscles.
DOMAIN: The coiled-coil domain mediates interaction with MAP3K4 and inhibition of AXIN1-mediated JNK activation through MAP3K4.
DOMAIN: The DIX domain mediates interaction with AXIN1 and inhibition of AXIN1-mediated JNK activation through MAP3K1. Mediates interaction with DVL2; this interaction is required for activation of Wnt signaling.
PTM: Phosphorylated on tyrosine and serine residues.
PTM: Polyubiquitinated, leading to its proteasomal degradation. WNT3A signaling increases DIXDC1 protein levels by inhibiting its ubiquitination and subsequent degradation.
SIMILARITY: Belongs to the DIXDC1 family.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 1 DIX domain.
SEQUENCE CAUTION: Sequence=AAH35509.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAH64479.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAB21826.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB71039.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.72 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 373.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -150.40297-0.506 Picture PostScript Text
3' UTR -1022.183547-0.288 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR001158 - DIX
IPR015506 - Dsh/Dvl-rel

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF00778 - DIX domain
PF11971 - CAMSAP CH domain

SCOP Domains:
47576 - Calponin-homology domain, CH-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3PZ7
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q155Q3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0043015 gamma-tubulin binding

Biological Process:
GO:0007275 multicellular organism development
GO:0016055 Wnt signaling pathway
GO:0021795 cerebral cortex cell migration
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021846 cell proliferation in forebrain
GO:0021869 forebrain ventricular zone progenitor cell division
GO:0030177 positive regulation of Wnt signaling pathway
GO:0032956 regulation of actin cytoskeleton organization
GO:0045665 negative regulation of neuron differentiation
GO:0060070 canonical Wnt signaling pathway
GO:0070507 regulation of microtubule cytoskeleton organization
GO:0090263 positive regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005925 focal adhesion
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  BC048294 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone IMAGE:5243423), partial cds.
DQ642016 - Homo sapiens DIX domain containing 1 isoform l (DIXDC1) mRNA, DIXDC1-S allele, complete cds.
BC035509 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone IMAGE:4898802), partial cds.
BC064479 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone IMAGE:5091805), partial cds.
BC128600 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone IMAGE:40132796), complete cds.
AK289807 - Homo sapiens cDNA FLJ75584 complete cds, highly similar to Homo sapiens DIX domain containing 1 (DIXDC1), mRNA.
BC033034 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone MGC:33331 IMAGE:4820652), complete cds.
AB051522 - Homo sapiens KIAA1735 mRNA for KIAA1735 protein.
AB384280 - Synthetic construct DNA, clone: pF1KSDA1735, Homo sapiens DIXDC1 gene for dixin, complete cds, without stop codon, in Flexi system.
KJ899873 - Synthetic construct Homo sapiens clone ccsbBroadEn_09267 DIXDC1 gene, encodes complete protein.
AK055899 - Homo sapiens cDNA FLJ31337 fis, clone MAMGL1000182, weakly similar to SEGMENT POLARITY PROTEIN DISHEVELLED.
JD526101 - Sequence 507125 from Patent EP1572962.
JD042479 - Sequence 23503 from Patent EP1572962.
BC041626 - Homo sapiens DIX domain containing 1, mRNA (cDNA clone IMAGE:4554923), partial cds.
AK294954 - Homo sapiens cDNA FLJ56325 complete cds, highly similar to Homo sapiens DIX domain containing 1 (DIXDC1), mRNA.
AK055469 - Homo sapiens cDNA FLJ30907 fis, clone FEBRA2006092, highly similar to Homo sapiens DIX domain containing 1 (DIXDC1), mRNA.
JD188907 - Sequence 169931 from Patent EP1572962.
JD325048 - Sequence 306072 from Patent EP1572962.
JD377701 - Sequence 358725 from Patent EP1572962.
JD449787 - Sequence 430811 from Patent EP1572962.
JD515761 - Sequence 496785 from Patent EP1572962.
AK074277 - Homo sapiens cDNA FLJ23697 fis, clone HEP10551.
JD306231 - Sequence 287255 from Patent EP1572962.
JD531102 - Sequence 512126 from Patent EP1572962.
JD433682 - Sequence 414706 from Patent EP1572962.
JD490983 - Sequence 472007 from Patent EP1572962.
JD236786 - Sequence 217810 from Patent EP1572962.
JD403395 - Sequence 384419 from Patent EP1572962.
JD278493 - Sequence 259517 from Patent EP1572962.
JD060882 - Sequence 41906 from Patent EP1572962.
JD148429 - Sequence 129453 from Patent EP1572962.
JD333865 - Sequence 314889 from Patent EP1572962.
AF070621 - Homo sapiens clone 24760 mRNA sequence.
JD363461 - Sequence 344485 from Patent EP1572962.
JD357743 - Sequence 338767 from Patent EP1572962.
JD307757 - Sequence 288781 from Patent EP1572962.
JD304602 - Sequence 285626 from Patent EP1572962.
JD271741 - Sequence 252765 from Patent EP1572962.
JD081666 - Sequence 62690 from Patent EP1572962.
JD307384 - Sequence 288408 from Patent EP1572962.
AB074187 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla10570, full insert sequence.
JD289845 - Sequence 270869 from Patent EP1572962.
JD524411 - Sequence 505435 from Patent EP1572962.
JD208522 - Sequence 189546 from Patent EP1572962.
JD172071 - Sequence 153095 from Patent EP1572962.
JD501664 - Sequence 482688 from Patent EP1572962.
JD214114 - Sequence 195138 from Patent EP1572962.
JD202391 - Sequence 183415 from Patent EP1572962.
JD086711 - Sequence 67735 from Patent EP1572962.
JD300841 - Sequence 281865 from Patent EP1572962.
JD302318 - Sequence 283342 from Patent EP1572962.
JD355575 - Sequence 336599 from Patent EP1572962.
JD508685 - Sequence 489709 from Patent EP1572962.
JD096112 - Sequence 77136 from Patent EP1572962.
JD208470 - Sequence 189494 from Patent EP1572962.
JD557803 - Sequence 538827 from Patent EP1572962.
JD241482 - Sequence 222506 from Patent EP1572962.
JD079506 - Sequence 60530 from Patent EP1572962.
JD493668 - Sequence 474692 from Patent EP1572962.
JD252401 - Sequence 233425 from Patent EP1572962.
JD357930 - Sequence 338954 from Patent EP1572962.
JD554597 - Sequence 535621 from Patent EP1572962.
JD252400 - Sequence 233424 from Patent EP1572962.
JD145027 - Sequence 126051 from Patent EP1572962.
JD205984 - Sequence 187008 from Patent EP1572962.
JD205985 - Sequence 187009 from Patent EP1572962.
JD335444 - Sequence 316468 from Patent EP1572962.
JD457229 - Sequence 438253 from Patent EP1572962.
JD447258 - Sequence 428282 from Patent EP1572962.
JD199770 - Sequence 180794 from Patent EP1572962.
JD085113 - Sequence 66137 from Patent EP1572962.
JD249568 - Sequence 230592 from Patent EP1572962.
JD378015 - Sequence 359039 from Patent EP1572962.
JD354055 - Sequence 335079 from Patent EP1572962.
JD269670 - Sequence 250694 from Patent EP1572962.
JD185523 - Sequence 166547 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A1A5D8, CCD1, DIXC1_HUMAN, KIAA1735, NM_001037954, NP_001033043, Q155Q3, Q6P2J8, Q6PIK4, Q8IVY4, Q96N69, Q9C0C8
UCSC ID: uc001pml.3
RefSeq Accession: NM_001037954
Protein: Q155Q3 (aka DIXC1_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001037954.2
exon count: 20CDS single in 3' UTR: no RNA size: 5899
ORF size: 2051CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1605.00frame shift in genome: yes % Coverage: 99.90
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.