Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1855
Gene name Gene Name - the full gene name approved by the HGNC.
Dishevelled segment polarity protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DVL1
Synonyms (NCBI Gene) Gene synonyms aliases
DRS2, DVL, DVL1L1, DVL1P1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.33
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs797044833 AA>G Pathogenic Coding sequence variant, frameshift variant
rs797044834 CGGGTGGGGCAGC>- Pathogenic Coding sequence variant, frameshift variant
rs797044835 A>- Pathogenic Coding sequence variant, frameshift variant
rs797044836 G>- Pathogenic Coding sequence variant, frameshift variant
rs797044837 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047691 hsa-miR-10a-5p CLASH 23622248
MIRT043927 hsa-miR-378a-3p CLASH 23622248
MIRT037606 hsa-miR-744-5p CLASH 23622248
MIRT618688 hsa-miR-1470 HITS-CLIP 23824327
MIRT618687 hsa-miR-4667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001947 Process Heart looping IEA
GO:0001947 Process Heart looping ISS
GO:0003151 Process Outflow tract morphogenesis IEA
GO:0003151 Process Outflow tract morphogenesis ISS
GO:0005109 Function Frizzled binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601365 3084 ENSG00000107404
Protein
UniProt ID O14640
Protein name Segment polarity protein dishevelled homolog DVL-1 (Dishevelled-1) (DSH homolog 1)
Protein function Participates in Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Plays a role both in canonical and non-canonical Wnt signaling. Plays a role in the signal
PDB 6LCA , 6LCB , 6TTK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00778 DIX 2 83 DIX domain Family
PF02377 Dishevelled 90 247 Dishevelled specific domain Family
PF00595 PDZ 251 336 PDZ domain Domain
PF00610 DEP 428 497 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF12316 Dsh_C 503 685 Segment polarity protein dishevelled (Dsh) C terminal Family
Sequence
Sequence length 695
UniProt ID P54792
Protein name Putative segment polarity protein dishevelled homolog DVL1P1 (DSH homolog 1-like) (Segment polarity protein dishevelled homolog DVL-1-like) (Dishevelled-1-like)
Protein function May play a role in the signal transduction pathway mediated by multiple Wnt genes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00778 DIX 2 83 DIX domain Family
PF02377 Dishevelled 90 247 Dishevelled specific domain Family
PF00595 PDZ 251 336 PDZ domain Domain
PF00610 DEP 403 472 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF12316 Dsh_C 478 660 Segment polarity protein dishevelled (Dsh) C terminal Family
Tissue specificity TISSUE SPECIFICITY: Expressed in thymus, heart, liver, kidney, brain, skeletal muscle, and pancreas. {ECO:0000269|PubMed:8644734}.
Sequence
Sequence length 670
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mTOR signaling pathway
Wnt signaling pathway
Notch signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  WNT mediated activation of DVL
PCP/CE pathway
Degradation of DVL
Disassembly of the destruction complex and recruitment of AXIN to the membrane
RHO GTPases Activate Formins
WNT5:FZD7-mediated leishmania damping
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Robinow Syndrome Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1 rs1553173372, rs797044833, rs1553173420, rs797044839, rs1569684523, rs797044838, rs797044835, rs797044834, rs797044836, rs869025220, rs1553173368, rs797044837, rs1553173367, rs797044840 N/A
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Astrocytoma Associate 30468298
Brain Neoplasms Associate 24933634
Breast Neoplasms Associate 27281609
Carcinoma Ductal Breast Associate 25824769
Carcinoma Hepatocellular Associate 29583038, 32160521, 33042264
Carcinoma Non Small Cell Lung Associate 15256063
Cardiovascular Abnormalities Associate 24454898
Cell Transformation Neoplastic Associate 32160521
Colorectal Neoplasms Associate 24129181, 34288405
Diabetes Mellitus Associate 27884142