SPG21

From Wikipedia, the free encyclopedia

Spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)

Identifiers

SPG21; ACP33; BM-019; GL010; MAST

External IDs

OMIM: 608181 MGI: 106403 HomoloGene: 9603

Gene ontology
Molecular Function:	• CD4 receptor binding
Cellular Component:	• cytosol • trans-Golgi network transport vesicle
Biological Process:	• antigen receptor-mediated signaling pathway

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_016630 (mRNA)
NP_057714 (protein)

NM_138584 (mRNA)
NP_613050 (protein)

Location

Chr 15: 63.04 - 63.07 Mb

Chr 9: 65.26 - 65.29 Mb

Pubmed search

[1]

[2]

Spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome), also known as SPG21, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome).

[edit] Further reading

Cross HE, McKusick VA (1967). "The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances.". Arch. Neurol. 16 (1): 1–13. PMID 6024251.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149.
Zeitlmann L, Sirim P, Kremmer E, Kolanus W (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.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
Simpson MA, Cross H, Proukakis C, et al. (2004). "Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.". Am. J. Hum. Genet. 73 (5): 1147–56. PMID 14564668.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.