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SPG21
Identifiers
Aliases	SPG21, ACP33, GL010, MAST, BM-019, spastic paraplegia 21 (autosomal recessive, Mast syndrome), maspardin, ABHD21, SPG21 abhydrolase domain containing, maspardin
External IDs	OMIM: 608181; MGI: 106403; HomoloGene: 9603; GeneCards: SPG21; OMA:SPG21 - orthologs
Gene location (Human) Chr. Chromosome 15 (human) Band 15q22.31 Start 64,963,022 bp End 64,990,310 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9 C|9 35.32 cM Start 65,368,229 bp End 65,395,752 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis monocyte right uterine tube stromal cell of endometrium secondary oocyte canal of the cervix islet of Langerhans pericardium gastric mucosa palpebral conjunctiva Top expressed in Ileal epithelium retinal pigment epithelium granulocyte mandibular prominence stroma of bone marrow medial ganglionic eminence white adipose tissue hand neural tube maxillary prominence More reference expression data BioGPS More reference expression data
Gene ontology Molecular function CD4 receptor binding protein binding Cellular component Golgi apparatus endosome membrane trans-Golgi network transport vesicle membrane endosome intracellular membrane-bounded organelle cytosol cytoplasm Biological process antigen receptor-mediated signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51324 27965 Ensembl ENSG00000090487 ENSMUSG00000032388 UniProt Q9NZD8 Q9CQC8 RefSeq (mRNA) NM_001127889 NM_001127890 NM_016630 NM_138584 NM_001357813 RefSeq (protein) NP_001121361 NP_001121362 NP_057714 NP_613050 NP_001344742 Location (UCSC) Chr 15: 64.96 – 64.99 Mb Chr 9: 65.37 – 65.4 Mb PubMed search
Wikidata
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Maspardin is a protein that in humans is encoded by the SPG21 gene.

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.

Interactions

SPG21 has been shown to interact with CD4.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000090487 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000032388 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. ^ 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.
6. 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.
7. ^ "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. 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

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