InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SPG20

Summary

InnateDB Protein

IDBP-364951.4

Last Modified

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

Gene Symbol

SPG20

Protein Name

spastic paraplegia 20 (Troyer syndrome)

Synonyms

SPARTIN; TAHCCP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000414147

InnateDB Gene

IDBG-24395 (SPG20)

Protein Structure

UniProt Annotation

Function

May be implicated in endosomal trafficking, or microtubule dynamics, or both.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19580544}. Note=Transiently associated with endosomes.

Disease Associations

Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]: 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. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269PubMed:12134148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed, with highest levels of expression detected in adipose tissue.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0031625	ubiquitin protein ligase binding

Biological Process

GO:0008219	cell death
GO:0009838	abscission
GO:0030514	negative regulation of BMP signaling pathway
GO:0034389	lipid particle organization
GO:0048698	negative regulation of collateral sprouting in absence of injury
GO:0050905	neuromuscular process
GO:0051301	cell division
GO:0051881	regulation of mitochondrial membrane potential
GO:0060612	adipose tissue development