protein Shroom4 (second homolog of apical protein, SHROOM4, KIAA1202, SHAP)

Function

• regulates cytoskeletal architecture in development by modulating spatial distribution of myosin-2
• interacts directly with F-actin

Structure

• belongs to the Shroom family
• contains 1 ASD2 domain
• contains 1 PDZ domain (DHR domain)

Compartment

• cytoplasm, cytoskeleton
• partial colocalisation with the cytoplasmic pool of F-actin

Alternative splicing

named isoforms=2

Expression

• expressed in all fetal & adult tissues investigated
• expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas
• in brain regions, detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe, putamen
• expression is strongest in medulla & weakest in the cerebral cortex

Pathology

• defects in SHROOM4 are the cause of Stocco dos Santos X-linked mental retardation syndrome
• chromosomal translocation t(X;8)(p11.22;p23.3) involving SHROOM4 with FBXO25 is a cause of X-linked mental retardation
• a chromosomal translocation t(X;19) involving SHROOM4 is a cause of X-linked mental retardation

More general terms

• protein Shroom

Database

• OMIM: https://mirror.omim.org/entry/300434
• UniProt: http://www.uniprot.org/uniprot/Q9ULL8.html