TMEM63A
entrez
9725
canonical
uniprot
O94886
canonical
ensembl
ENSG00000196187
resolver
ensp
ENSP00000355800
resolver
ensp
ENSP00000570979
resolver
ensp
ENSP00000570983
resolver
ensp
ENSP00000593572
resolver
ensp
ENSP00000624303
resolver
ensp
ENSP00000624304
resolver
ensp
ENSP00000714281
resolver
enst
ENST00000366835
resolver
enst
ENST00000900920
resolver
enst
ENST00000900924
resolver
enst
ENST00000923513
resolver
enst
ENST00000954244
resolver
enst
ENST00000954245
resolver
genesymbol
TMEM63A
resolver
genesymbol_syn
KIAA0489
resolver
genesymbol_syn
KIAA0792
resolver
hgnc
HGNC:29118
resolver
uniprot
Q53GI7
resolver
uniprot
Q5TE96
resolver
uniprot
Q8N2U2
resolver
uniprot_entry
TM63A_HUMAN
resolver
uniprot_sec
Q53GI7
resolver
uniprot_sec
Q5TE96
resolver
uniprot_sec
Q8N2U2
resolver
amino_acid_sequence
MMDSPFLELWQSKAVSIREQLGLGDRPNDSYCYNSAKNSTVLQGVTFGGIPTVLLIDVSCFLFLILVFSIIRRRFWDYGRIALVSEADSESRFQRLSSTSSSGQQDFENELGCCPWLTAIFRLHDDQILEWCGEDAIHYLSFQRHIIFLLVVVSFLSLCVILPVNLSGDLLDKDPYSFGRTTIANLQTDNDLLWLHTIFAVIYLFLTVGFMRHHTQSIKYKEENLVRRTLFITGLPRDARKETVESHFRDAYPTCEVVDVQLCYNVAKLIYLCKEKKKTEKSLTYYTNLQVKTGQRTLINPKPCGQFCCCEVLGCEWEDAISYYTRMKDRLLERITEEERHVQDQPLGMAFVTFQEKSMATYILKDFNACKCQSLQCKGEPQPSSHSRELYTSKWTVTFAADPEDICWKNLSIQGLRWWLQWLGINFTLFLGLFFLTTPSIILSTMDKFNVTKPIHALNNPIISQFFPTLLLWSFSALLPSIVYYSTLLESHWTKSGENQIMMTKVYIFLIFMVLILPSLGLTSLDFFFRWLFDKTSSEASIRLECVFLPDQGAFFVNYVIASAFIGNGMELLRLPGLILYTFRMIMAKTAADRRNVKQNQAFQYEFGAMYAWMLCVFTVIVAYSITCPIIAPFGLIYILLKHMVDRHNLYFVYLPAKLEKGIHFAAVNQALAAPILCLFWLYFFSFLRLGMKAPATLFTFLVLLLTILVCLAHTCFGCFKHLSPLNYKTEEPASDKGSEAEAHMPPPFTPYVPRILNGLASERTALSPQQQQQQTYGAIHNISGTIPGQCLAQSATGSVAAAPQEA
uniprot
proteins
disease_involvement
DISEASE: Leukodystrophy, hypomyelinating, 19, transient infantile (HLD19) [MIM:618688]: An autosomal dominant disorder characterized by marked hypomyelination on brain imaging, congenital nystagmus, and motor delay manifesting in early infancy. Both neurologic impairment and abnormal brain imaging spontaneously resolve during childhood. {ECO:0000269|PubMed:31587869, ECO:0000269|PubMed:33785861, ECO:0000269|PubMed:34598833, ECO:0000269|PubMed:38790154, ECO:0000269|PubMed:38951194}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mechanosensitive cation channel with low conductance and high activation threshold (PubMed:30382938, PubMed:31587869, PubMed:37543036). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Acts as a regulator of lysosomal morphology by mediating lysosomal mechanosensitivity (By similarity). Important for the baby's first breath and respiration throughout life (PubMed:38127458). Upon lung inflation conducts cation currents in alveolar type 1 and 2 cells triggering lamellar body exocytosis and surfactant secretion into airspace (PubMed:38127458). Also acts as an osmosensitive cation channel preferentially activated by hypotonic stress (By similarity). {ECO:0000250|UniProtKB:Q91YT8, ECO:0000269|PubMed:30382938, ECO:0000269|PubMed:31587869, ECO:0000269|PubMed:37543036, ECO:0000269|PubMed:38127458, ECO:0000269|PubMed:39716028}.
uniprot
proteins
mass_dalton
92126
uniprot
proteins
mutagenesis
MUTAGEN 571; /note="E->K: Significant loss of mechanosensitive ion channel activity but no effect on its localization to the cell membrane."; /evidence="ECO:0000269|PubMed:37543036
uniprot
proteins
post_translational_modification
PTM: N-Glycosylated. {ECO:0000269|PubMed:37543036}.
uniprot
proteins
protein_family
CSC1 (TC 1.A.17) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20957757
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
30382938
uniprot
proteins
pubmed
31587869
uniprot
proteins
pubmed
33785861
uniprot
proteins
pubmed
34598833
uniprot
proteins
pubmed
37402734
uniprot
proteins
pubmed
37543036
uniprot
proteins
pubmed
38127458
uniprot
proteins
pubmed
38217391
uniprot
proteins
pubmed
38790154
uniprot
proteins
pubmed
38951194
uniprot
proteins
pubmed
39716028
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
807
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:20957757, ECO:0000269|PubMed:38127458, ECO:0000269|PubMed:39716028}; Multi-pass membrane protein {ECO:0000269|PubMed:38217391}. Early endosome membrane {ECO:0000269|PubMed:38127458}; Multi-pass membrane protein {ECO:0000269|PubMed:38217391}. Cell membrane {ECO:0000269|PubMed:37543036}; Multi-pass membrane protein {ECO:0000269|PubMed:38217391}.
uniprot
proteins
transmembrane_region
TRANSMEM 52..74; /note="Helical; Name=TM0"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 135..167; /note="Helical; Name=TM1"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 192..217; /note="Helical; Name=TM2"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 417..444; /note="Helical; Name=TM3"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 463..490; /note="Helical; Name=TM4"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 496..532; /note="Helical; Name=TM5"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 555..586; /note="Helical; Name=TM6"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 607..624; /note="Helical; Name=TM7"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 629..651; /note="Helical; Name=TM8"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 662..689; /note="Helical; Name=TM9"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA"; TRANSMEM 695..709; /note="Helical; Name=TM10"; /evidence="ECO:0000269|PubMed:38217391, ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHW, ECO:0007744|PDB:8WUA
uniprot
proteins