InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SHROOM4

Summary

InnateDB Protein

IDBP-67282.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SHROOM4

Protein Name

shroom family member 4

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000289292

InnateDB Gene

IDBG-67278 (SHROOM4)

Protein Structure

UniProt Annotation

Function

Probable regulator of cytoskeletal architecture that plays an important role in development. May regulate cellular and cytoskeletal architecture by modulating the spatial distribution of myosin II (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton {ECO:0000269PubMed:16249884, ECO:0000269PubMed:16684770}. Note=Shows partial colocalization with the cytoplasmic pool of F- actin.

Disease Associations

Mental retardation, X-linked, syndromic, Stocco dos Santos type (SDSX) [MIM:300434]: A syndrome characterized by severe mental retardation with hyperactivity, aggressive behavior, delayed or no speech, and seizures. Additional features include congenital bilateral hip luxation, short stature, and kyphosis. {ECO:0000269PubMed:16249884}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;8)(p11.22;p23.3) with FBXO25.Note=A chromosomal aberration involving SHROOM4 is a cause of X-linked mental retardation (XLMR). Translocation t(X;19).

Tissue Specificity

Expressed in all fetal and adult tissues investigated. Expressed in adult heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. In brain regions detected in cerebellum, cerebral cortex, medulla, spinal cord, occipital pole, frontal lobe, temporal lobe and putamen. The expression is strongest in the medulla and weakest in the cerebral cortex. {ECO:0000269PubMed:16249884}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0051015	actin filament binding

Biological Process

GO:0007015	actin filament organization
GO:0007420	brain development
GO:0030036	actin cytoskeleton organization
GO:0050890	cognition

Cellular Component

GO:0001725	stress fiber
GO:0005737	cytoplasm
GO:0009898	cytoplasmic side of plasma membrane
GO:0009925	basal plasma membrane
GO:0015629	actin cytoskeleton
GO:0016324	apical plasma membrane
GO:0016460	myosin II complex
GO:0030864	cortical actin cytoskeleton
GO:0031941	filamentous actin