SPG21

Maspardin is a protein that in humans is encoded by the SPG21 gene.^[5][6][7]

AliasesSPG21, ACP33, GL010, MAST, BM-019, spastic paraplegia 21 (autosomal recessive, Mast syndrome), maspardin, ABHD21, SPG21 abhydrolase domain containing, maspardin

External IDsOMIM: 608181; MGI: 106403; HomoloGene: 9603; GeneCards: SPG21; OMA:SPG21 - orthologs

Chr.Chromosome 15 (human)^[1]

End64,990,310 bp^[1]

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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)[1] Band 15q22.31 Start 64,963,022 bp[1] End 64,990,310 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 C|9 35.32 cM Start 65,368,229 bp[2] End 65,395,752 bp[2]
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 [3] [4]
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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]