InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPG21

Summary

InnateDB Protein

IDBP-375173.5

Last Modified

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

Gene Symbol

SPG21

Protein Name

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000394846

InnateDB Gene

IDBG-16930 (SPG21)

Protein Structure

UniProt Annotation

Function

May play a role as a negative regulatory factor in CD4- dependent T-cell activation. {ECO:0000269PubMed:11113139}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:11113139}. Membrane {ECO:0000269PubMed:11113139}; Peripheral membrane protein {ECO:0000269PubMed:11113139}. Endosome membrane {ECO:0000269PubMed:11113139}; Peripheral membrane protein {ECO:0000269PubMed:11113139}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269PubMed:11113139}; Peripheral membrane protein {ECO:0000269PubMed:11113139}. Note=Partially localized in the cytosol but also accumulated on an intracellular vesicular compartment. Colocalizes with CD4 on endosomal/trans- Golgi network.

Disease Associations

Spastic paraplegia 21, autosomal recessive (SPG21) [MIM:248900]: 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. SPG21 is associated with dementia and other central nervous system abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Patients have a thin corpus callosum and white-matter abnormalities. {ECO:0000269PubMed:14564668}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level). {ECO:0000269PubMed:11113139}.

Comments

Interactions

Number of Interactions

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