InnateDB Protein
|
IDBP-375174.4
|
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
|
ENSP00000404111
|
InnateDB Gene
|
IDBG-16930 (SPG21)
|
Protein Structure
|
|
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 |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
22
[view]
|
Protein-Protein |
22
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000073
Alpha/beta hydrolase fold-1
IPR029058
Alpha/Beta hydrolase fold
|
PFAM |
PF00561
|
PRINTS |
PR00111
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9NZD8
|
PhosphoSite |
PhosphoSite-Q9NZD8
|
TrEMBL |
H3BRR0
|
UniProt Splice Variant |
|
Entrez Gene |
51324
|
UniGene |
|
RefSeq |
NP_001121361
|
HUGO |
HGNC:20373
|
OMIM |
608181
|
CCDS |
CCDS10198
|
HPRD |
10492
|
IMGT |
|
EMBL |
AC069368
AC103691
AF208861
AF212231
AK172849
AK301362
BC000244
CH471082
|
GenPept |
AAF64275
AAH00244
AAK14917
BAD18813
BAG62906
EAW77704
EAW77705
|
|
|