DVL1

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]

Description

Dishevelled segment polarity protein 1

Tissue specificity

Tissue enhanced (skeletal muscle)

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1 (1335276 - 1349418)

Ensembl ID

ENSG00000107404  (ver. 103.38)

Orthologs

Mouse Dvl1: ENSMUSG00000029071

UniProt

O14640

neXtProt

NX_O14640

Human splice variants
Mouse splice variants

Protein structure