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Gene_locus Report for: human-TMEM53

Name Class
human-TMEM53NameHomo sapiens (Human) Transmembrane protein 53, FLJ22353, NET4
SpeciesHomo sapiens
Organismhuman
Gene_nameTMEM53
TMM53
FLJ22353
NET4
BlockX
FamilyDuf_829
DiseaseCraniotubular dysplasia, Ikegawa type (CTDI)
Database (9)
Paper (6)
CommentProtein of unknown function DUF829. Contains exclusively eukaryote proteins including transmembrane protein 53. Said to be integral membrane proteins (!?) Dictyostelium discoideum Net4 (dicdi-q54yr8), which has strong homologies to mammalian DUF829/Tmem53/NET4 is found on lipid droplets (Du et al.). Seems to have a conserved catalytic triad Ser-113, Asp-220, and His-252 in TMEM53_HUMAN. Korfali et al. (2011) identified NET4 as a gene that influenced cell cycle regulation. The cell cycle effects of NET4 were dependent on p53 and RB. Knockdown of NET4 caused premature senescence due to permanent arrest of the cell cycle in MRC5 human fibroblasts, whereas it only caused a cell cycle delay at G1 phase in U2OS cells. Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling (Guo et al. 2021). Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life. In 4 Indian families with craniotubular dysplasia, Guo et al. (2021) identified homozygous mutations in the TMEM53 gene: a 4-bp insertion in an affected brother and sister in family A, and a 3-bp deletionin 4 affected individuals from families B, C, and D.
Proteinhuman-TMEM53
Peptidehuman-TMEM53
MutationV75HfsX26_human-TMEM53
N22AfsX7_human-TMEM53
Tree_nodeDuf_829181791

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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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