SPG21

SPG21
Identifiers
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; GeneCards: SPG21
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 9: 65.37 – 65.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090487 – Ensembl, May 2017
  2. ^ a b c 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. ^ 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.
  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. ^ a b "Entrez Gene: SPG21 spastic paraplegia 21, maspardin (autosomal recessive, Mast syndrome)".

Further reading


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