SPG21

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)
End	64,990,310 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	65,395,752 bp
RNA expression pattern
	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
	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
	51324
	27965
	ENSG00000090487
	ENSMUSG00000032388
	Q9NZD8
	Q9CQC8
	NM_001127889; NM_001127890; NM_016630
	NM_138584; NM_001357813
	NP_001121361; NP_001121362; NP_057714
	NP_613050; NP_001344742
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000090487 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032388 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^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.
^ 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.
^ ^a ^b "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)".

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.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000090487 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11113139-5] 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.

[pmid14564668-6] 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.

[entrez-7] "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)".

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SPG21

Interactions

References

Further reading