SPG21
entrez
51324
canonical
uniprot
Q9NZD8
canonical
ensembl
ENSG00000090487
resolver
ensp
ENSP00000204566
resolver
ensp
ENSP00000394846
resolver
ensp
ENSP00000404111
resolver
genesymbol
SPG21
resolver
genesymbol_syn
ACP33
resolver
hgnc
HGNC:20373
resolver
uniprot
B4DW44
resolver
uniprot
Q6ZMB6
resolver
uniprot_entry
SPG21_HUMAN
resolver
uniprot_sec
B4DW44
resolver
uniprot_sec
Q6ZMB6
resolver
amino_acid_sequence
MGEIKVSPDYNWFRGTVPLKKIIVDDDDSKIWSLYDAGPRSIRCPLIFLPPVSGTADVFFRQILALTGWGYRVIALQYPVYWDHLEFCDGFRKLLDHLQLDKVHLFGASLGGFLAQKFAEYTHKSPRVHSLILCNSFSDTSIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADAIDFMVDRLESLGQSELASRLTLNCQNSYVEPHKIRDIPVTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNFPYLCRSAEVNLYVQIHLLQFHGTKYAAIDPSMVSAEELEVQKGSLGISQEEQ
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:14564668}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role as a negative regulatory factor in CD4-dependent T-cell activation. {ECO:0000269|PubMed:11113139}.
uniprot
proteins
mass_dalton
34960
uniprot
proteins
mutagenesis
MUTAGEN 109; /note="S->A: Abolishes interaction with CD4."; /evidence="ECO:0000269|PubMed:11113139
uniprot
proteins
protein_family
AB hydrolase superfamily
uniprot
proteins
pubmed
11113139
uniprot
proteins
pubmed
14564668
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
19184135
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
sequence_length
308
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:11113139}. Membrane {ECO:0000269|PubMed:11113139}; Peripheral membrane protein {ECO:0000269|PubMed:11113139}. Endosome membrane {ECO:0000269|PubMed:11113139}; Peripheral membrane protein {ECO:0000269|PubMed:11113139}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:11113139}; Peripheral membrane protein {ECO:0000269|PubMed:11113139}. Note=Partially localized in the cytosol but also accumulated on an intracellular vesicular compartment. Colocalizes with CD4 on endosomal/trans-Golgi network.
uniprot
proteins