SPG21 Interactions References Further reading Navigation menuSPG211064039603SPG21More reference expression dataCD4 receptor bindingprotein bindingGolgi apparatusendosome membranetrans-Golgi network transport vesiclemembraneendosomeintracellular membrane-bounded organellecytosolcytoplasmantigen receptor-mediated signaling pathwayAmigoQuickGO5132427965ENSG00000090487ENSMUSG00000032388Q9NZD8Q9CQC8NM_001127889NM_001127890NM_016630NM_138584NM_001357813NP_001121361NP_001121362NP_057714NP_613050NP_001344742Chr 15: 64.96 – 64.99 MbChr 9: 65.46 – 65.49 MbGRCh38: Ensembl release 89: ENSG00000090487GRCm38: Ensembl release 89: ENSMUSG00000032388"Human PubMed Reference:""Mouse PubMed Reference:"10.1074/jbc.M00927020011113139"Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with Dementia"10.1086/379522118049314564668"Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)"10.1001/archneur.1967.00470190005001602425110.1016/0378-1119(94)90802-8812529810.1016/S0378-1119(97)00411-39373149"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"10.1073/pnas.2426038991392411247793210.1038/ng128514702039"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)"10.1101/gr.25965045289281548933410.1038/nature0420916189514expanding ite
Genes on human chromosome 15Human chromosome 15 gene stubs
5132427965ENSG00000090487ENSMUSG00000032388Q9NZD8Q9CQC8proteingeneinteractCD4
| SPG21 | |||||||||||||||||||||||||
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| Aliases | SPG21, ACP33, GL010, MAST, BM-019, spastic paraplegia 21 (autosomal recessive, Mast syndrome), maspardin, ABHD21, SPG21 abhydrolase domain containing, maspardin | ||||||||||||||||||||||||
| External IDs | MGI: 106403 HomoloGene: 9603 GeneCards: SPG21 | ||||||||||||||||||||||||
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| Species | Human | Mouse | |||||||||||||||||||||||
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| Location (UCSC) | Chr 15: 64.96 – 64.99 Mb | Chr 9: 65.46 – 65.49 Mb | |||||||||||||||||||||||
PubMed search | [3] | [4] | |||||||||||||||||||||||
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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
^ abc GRCh38: Ensembl release 89: ENSG00000090487 - Ensembl, May 2017
^ abc GRCm38: Ensembl release 89: ENSMUSG00000032388 - Ensembl, May 2017
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^ "Mouse PubMed Reference:".
^ ab 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.
^ 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.
^ ab "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)".
Further reading
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Cross HE, McKusick VA (1967). "The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances". Arch. Neurol. 16 (1): 1–13. doi:10.1001/archneur.1967.00470190005001. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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. PMC 139241. PMID 12477932.
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. PMC 528928. 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.
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Genes on human chromosome 15, Human chromosome 15 gene stubsUncategorized
