segment polarity protein dishevelled homolog DVL-1-like; dishevelled-1-like; DSH homolog 1-like (DVL1L1, DVL, DVL1, DVL1P1)

Function

• may play a role in the signal transduction pathway mediated by multiple Wnt genes

Structure

• belongs to the DSH family
• contains 1 DEP domain
• contains 1 DIX domain
• contains 1 PDZ domain (DHR domain)

Compartment

• cytoplasm (putative)

Alternative splicing

• named isoforms=2; long, short

Expression

• expressed in thymus, heart, liver, kidney, brain, skeletal muscle, & pancreas

Pathology

• may be involved in the pathogenesis of DiGeorge syndrome

Notes

• product of a dubious gene prediction

More general terms

• dishevelled family protein

Additional terms

• DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome

Database

• OMIM: https://mirror.omim.org/entry/601225
• UniProt: http://www.uniprot.org/uniprot/P54792.html