SPG21

Spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Identifiers
Symbols SPG21; ACP33; GL010; MASPARDIN; MAST
External IDs OMIM608181 MGI106403 HomoloGene9603 GeneCards: SPG21 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 51324 27965
Ensembl ENSG00000090487 ENSMUSG00000032388
UniProt Q9NZD8 Q9CQC8
RefSeq (mRNA) NM_001127889.1 NM_138584.2
RefSeq (protein) NP_001121361.1 NP_613050.1
Location (UCSC) Chr 15:
65.26 – 65.28 Mb
Chr 9:
65.31 – 65.34 Mb
PubMed search [1] [2]

Maspardin is a protein that in humans is encoded by the SPG21 gene.[1][2][3]

The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It 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.[3]

Interactions

SPG21 has been shown to interact with CD4.[1]

References

  1. ^ a b Zeitlmann L, Sirim P, Kremmer E, Kolanus W (Mar 2001). "Cloning of ACP33 as a novel intracellular ligand of CD4". J Biol Chem 276 (12): 9123–32. doi:10.1074/jbc.M009270200. PMID 11113139. 
  2. ^ Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (Oct 2003). "Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia". Am J Hum Genet 73 (5): 1147–56. doi:10.1086/379522. PMC 1180493. PMID 14564668. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1180493. 
  3. ^ a b "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51324. 

Further reading