Human Gene DVL1 (uc001aer.4)
  Description: Homo sapiens dishevelled segment polarity protein 1 (DVL1), mRNA.
RefSeq Summary (NM_004421): DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:1,270,658-1,284,492 Size: 13,835 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr1:1,271,522-1,284,445 Size: 12,924 Coding Exon Count: 15 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:1,270,658-1,284,492)mRNA (may differ from genome)Protein (670 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DVL1
CDC HuGE Published Literature: DVL1

-  MalaCards Disease Associations
  MalaCards Gene Search: DVL1
Diseases sorted by gene-association score: robinow syndrome, autosomal dominant 2* (1024), autosomal dominant robinow syndrome* (261), charcot-marie-tooth disease type 2a (20), robinow syndrome (17), neural tube defects (3), nephronophthisis (2), colorectal cancer (2)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.84 RPKM in Muscle - Skeletal
Total median expression: 1522.70 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -20.1047-0.428 Picture PostScript Text
3' UTR -406.30864-0.470 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
  Pfam Domains:
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF00610 - Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP)
PF00778 - DIX domain
PF02377 - Dishevelled specific domain
PF12316 - Segment polarity protein dishevelled (Dsh) C terminal

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
50156 - PDZ domain-like

ModBase Predicted Comparative 3D Structure on O14640-2
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 orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Descriptions from all associated GenBank mRNAs
  BC017225 - Homo sapiens dishevelled, dsh homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:4299758), partial cds.
AF006011 - Homo sapiens dishevelled 1 (DVL1) mRNA, complete cds.
BC025292 - Homo sapiens cDNA clone IMAGE:4554266, containing frame-shift errors.
BC050454 - Homo sapiens dishevelled, dsh homolog 1 (Drosophila), mRNA (cDNA clone MGC:54245 IMAGE:6201003), complete cds.
AK093189 - Homo sapiens cDNA FLJ35870 fis, clone TESTI2007998, highly similar to SEGMENT POLARITY PROTEIN DISHEVELLED HOMOLOG DVL-1.
AX747980 - Sequence 1505 from Patent EP1308459.
AK095867 - Homo sapiens cDNA FLJ38548 fis, clone HCHON2001768, highly similar to Segment polarity protein dishevelled homolog DVL-1.
AB209210 - Homo sapiens mRNA for dishevelled 1 isoform a variant protein.
JD481672 - Sequence 462696 from Patent EP1572962.
BC111419 - Homo sapiens cDNA clone IMAGE:40023756.
JD495614 - Sequence 476638 from Patent EP1572962.
AK300063 - Homo sapiens cDNA FLJ56879 complete cds, highly similar to Segment polarity protein dishevelled homolog DVL-1.
AK293286 - Homo sapiens cDNA FLJ56847 complete cds, highly similar to Segment polarity protein dishevelled homologDVL-1.
JD401344 - Sequence 382368 from Patent EP1572962.
U46461 - Human dishevelled homolog (DVL) mRNA, complete cds.
KJ901396 - Synthetic construct Homo sapiens clone ccsbBroadEn_10790 DVL1 gene, encodes complete protein.
AB385564 - Synthetic construct DNA, clone: pF1KB8019, Homo sapiens DVL1 gene for segment polarity protein dishevelled homolog DVL-1, complete cds, without stop codon, in Flexi system.
CU690690 - Synthetic construct Homo sapiens gateway clone IMAGE:100021370 5' read DVL1 mRNA.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04330 - Notch signaling pathway
hsa04916 - Melanogenesis
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

BioCarta from NCI Cancer Genome Anatomy Project
h_alkPathway - ALK in cardiac myocytes
h_hesPathway - Segmentation Clock
h_pitx2Pathway - Multi-step Regulation of Transcription by Pitx2
h_agrPathway - Agrin in Postsynaptic Differentiation
h_ps1Pathway - Presenilin action in Notch and Wnt signaling
h_gsk3Pathway - Inactivation of Gsk3 by AKT causes accumulation of b-catenin in Alveolar Macrophages
h_wntPathway - WNT Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein O14640 (Reactome details) participates in the following event(s):

R-HSA-4641155 DVL1 is bound by the HECT ubiquitin ligase HECW1
R-HSA-4641159 DVL1 is ubiquitinated by HECW1
R-HSA-201717 CSNK2-mediated phosphorylation of DVL
R-HSA-1504213 DVL is bound by the CUL3:KLHL12:RBX1 ubiquitin ligase complex
R-HSA-5368582 CXXC4 binds DVL to prevent AXIN binding
R-NUL-5368583 Cxxc4 binds DVL to prevent AXIN binding
R-NUL-5368587 DVL binds Ccdc88c
R-HSA-5368588 DVL binds CCDC88C
R-HSA-3772435 WNT signaling stimulates CSNK1-dependent phosphorylation of DVL
R-HSA-3858482 DVL is recruited to the receptor
R-HSA-1504188 FZD recruits DVL to the receptor complex
R-HSA-3772434 Phosphorylated DVL recruits PIP5K1B to the plasma membrane
R-HSA-3858475 ppDVL recruits RAC
R-HSA-3858489 ppDVL binds DAAM1
R-HSA-3858480 WNT-dependent phosphorylation of DVL
R-HSA-1504190 DVL is ubiquitinated by CUL3:KLHL12:RBX1
R-HSA-201691 Phosphorylation of LRP5/6 cytoplasmic domain by CSNKI
R-NUL-1458902 frog CK1gamma phosphorylates LRP5/6
R-HSA-201677 Phosphorylation of LRP5/6 cytoplasmic domain by membrane-associated GSK3beta
R-HSA-1504186 DVL recruits GSK3beta:AXIN1 to the receptor complex
R-HSA-3858495 DAAM1 recruits GTP-bound RHOA
R-HSA-3965450 DAAM1 recruits PFN1
R-HSA-3772436 DVL-associated PIP5K1B phosphorylates PI4P to PI(4,5)P2
R-HSA-4641258 Degradation of DVL
R-HSA-201688 WNT mediated activation of DVL
R-HSA-5368598 Negative regulation of TCF-dependent signaling by DVL-interacting proteins
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-4086400 PCP/CE pathway
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-195721 Signaling by WNT
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-195258 RHO GTPase Effectors
R-HSA-162582 Signal Transduction
R-HSA-194315 Signaling by Rho GTPases

-  Other Names for This Gene
  Alternate Gene Symbols: NM_004421, NP_004412, O14640-2, uc001aeu.1
UCSC ID: uc001aer.4
RefSeq Accession: NM_004421
Protein: O14640-2, splice isoform of O14640 CCDS: CCDS22.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DVL1:
rob-ad (Autosomal Dominant Robinow Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004421.2
exon count: 15CDS single in 3' UTR: no RNA size: 2941
ORF size: 2013CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2725.00frame shift in genome: no % Coverage: 99.42
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
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.