InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KIAA0196

Summary

InnateDB Protein

IDBP-35293.6

Last Modified

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

Gene Symbol

KIAA0196

Protein Name

KIAA0196

Synonyms

RTSC; SPG8;

Species

Homo sapiens

Ensembl Protein

ENSP00000318016

InnateDB Gene

IDBG-35289 (KIAA0196)

Protein Structure

UniProt Annotation

Function

Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. {ECO:0000269PubMed:19922875, ECO:0000269PubMed:20833645}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:20833645}. Endoplasmic reticulum {ECO:0000269PubMed:20833645}. Note=Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord.

Disease Associations

Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:17160902, ECO:0000269PubMed:23455931, ECO:0000269PubMed:23881105}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ritscher-Schinzel syndrome (RTSC) [MIM:220210]: A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay. {ECO:0000269PubMed:24065355}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed ubiquitously. {ECO:0000269PubMed:20833645}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.