TMEM53
entrez
79639
canonical
uniprot
Q6P2H8
canonical
ensembl
ENSG00000126106
resolver
ensp
ENSP00000361309
resolver
ensp
ENSP00000361311
resolver
enst
ENST00000372235
resolver
genesymbol
TMEM53
resolver
genesymbol_syn
NET4
resolver
hgnc
HGNC:26186
resolver
uniprot
B4DKG0
resolver
uniprot
Q5JPH2
resolver
uniprot
Q5TDE2
resolver
uniprot
Q6IA07
resolver
uniprot
Q9H6E2
resolver
uniprot_entry
Q5TDE2_HUMAN
resolver
uniprot_entry
TMM53_HUMAN
resolver
uniprot_sec
B4DKG0
resolver
uniprot_sec
Q5JPH2
resolver
uniprot_sec
Q6IA07
resolver
uniprot_sec
Q9H6E2
resolver
amino_acid_sequence
MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWGGCKDKNLAKYSAIYHKRGCIVIRYTAPWHMVFFSESLGIPSLRVLAQKLLELLFDYEIEKEPLLFHVFSNGGVMLYRYVLELLQTRRFCRLRVVGTIFDSAPGDSNLVGALRALAAILERRAAMLRLLLLVAFALVVVLFHVLLAPITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLARDIERMVEARLARRVLARSVDFVSSAHVSHLRDYPTYYTSLCVDFMRNCVRC
uniprot
proteins
disease_involvement
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.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
31630
uniprot
proteins
protein_family
TMEM53 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
33824347
uniprot
proteins
sequence_length
277
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000269|PubMed:33824347}; Single-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 171..191; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins