SPG21
| SPG21 |
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| Identifiers |
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| Aliases | SPG21, ACP33, GL010, MAST, BM-019, spastic paraplegia 21 (autosomal recessive, Mast syndrome), maspardin |
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| External IDs | MGI: 106403 HomoloGene: 9603 GeneCards: SPG21 |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 9 (mouse)[2] |
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| | Band | No data available | Start | 65,460,947 bp[2] |
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| End | 65,488,470 bp[2] |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 15: 64.96 – 64.99 Mb | Chr 15: 65.46 – 65.49 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
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Maspardin is a protein that in humans is encoded by the SPG21 gene.[5][6][7]
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.[7]
Interactions
SPG21 has been shown to interact with CD4.[5]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000090487 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032388 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- 1 2 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. PMID 11113139. doi:10.1074/jbc.M009270200.
- ↑ 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. PMC 1180493
. PMID 14564668. doi:10.1086/379522. - 1 2 "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)".
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. doi:10.1001/archneur.1967.00470190005001.
- 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. doi:10.1016/0378-1119(94)90802-8.
- 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. doi:10.1016/S0378-1119(97)00411-3.
- 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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- 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. PMID 14702039. doi:10.1038/ng1285.
- 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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
- 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. PMID 16189514. doi:10.1038/nature04209.
