ID  Q6P2H8;
PN  Transmembrane protein 53;
GN  TMEM53;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Nucleus Position: SL-0183;
SL  Comments: Nucleus outer membrane {ECO:0000269|PubMed:33824347}; Single-pass membrane protein {ECO:0000305}.
DR  UNIPROT: Q6P2H8;
DR  UNIPROT: B4DKG0;
DR  UNIPROT: Q5JPH2;
DR  UNIPROT: Q6IA07;
DR  UNIPROT: Q9H6E2;
DR  Pfam: PF05705;
DR  OMIM: 619722;
DR  OMIM: 619727;
DE  Function: Ensures normal bone formation, through the negative regulation of bone morphogenetic protein (BMP) signaling in osteoblast lineage cells by blocking cytoplasm-nucleus translocation of phosphorylated SMAD1/5/9 proteins. {ECO:0000269|PubMed:33824347}.
DE  Disease: Craniotubular dysplasia, Ikegawa type (CTDI) [MIM:619727]: An autosomal recessive, sclerosing bone disorder characterized by proportional or short-limbed 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. {ECO:0000269|PubMed:33824347}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: O60361; IntAct: EBI-21771891; Score: 0.40
GO  GO:0016021;
GO  GO:0031965;
GO  GO:0005640;
GO  GO:0005634;
GO  GO:0030514;
GO  GO:0030279;
GO  GO:0045668;
GO  GO:0046822;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWGGCKDKNLAKYSAIYHKRGCIVIRYTAPWHMVFFSES
SQ  LGIPSLRVLAQKLLELLFDYEIEKEPLLFHVFSNGGVMLYRYVLELLQTRRFCRLRVVGTIFDSAPGDSNLVGALRALAA
SQ  ILERRAAMLRLLLLVAFALVVVLFHVLLAPITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLARDIERMVEARLARRV
SQ  LARSVDFVSSAHVSHLRDYPTYYTSLCVDFMRNCVRC
//