SPG21

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

Description

SPG21 abhydrolase domain containing, maspardin

Tissue specificity

Low tissue specificity

Subcell location

Vesicles, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

15 (64963022 - 64990310)

Ensembl ID

ENSG00000090487  (ver. 103.38)

Orthologs

Mouse Spg21: ENSMUSG00000032388

UniProt

Q9NZD8

neXtProt

NX_Q9NZD8

Human splice variants
Mouse splice variants

Protein structure