UniProt:O94886 TMEM63A

chain
  • chain:1-807
checksum D7C32A11F7FEDF63
comment
  • 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).CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)SUBUNIT Monomer.SUBCELLULAR LOCATION N-Glycosylated.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the CSC1 (TC 1.A.17) family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Extended N-terminus.
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 251798
description
  • recommendedName: fullName evidence="19"Mechanosensitive cation channel TMEM63A alternativeName: fullName evidence="17"Transmembrane protein 63A shortName evidence="17"hTMEM63A
displayName UniProt:O94886 TMEM63A
geneName
  • TMEM63A
  • KIAA0489
  • KIAA0792
identifier O94886
isSequenceChanged false
keyword
  • 3D-structure
  • Calcium
  • Cell membrane
  • Disease variant
  • Endosome
  • Glycoprotein
  • Ion channel
  • Ion transport
  • Leukodystrophy
  • Lysosome
  • Membrane
  • Phosphoprotein
  • Proteomics identification
  • Reference proteome
  • Transmembrane
  • Transmembrane helix
  • Transport
modified [InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType Protein
name
  • TMEM63A
otherIdentifier
  • 11719289_a_at
  • 11719290_at
  • 11753303_a_at
  • 16699932
  • 202699_PM_s_at
  • 202699_s_at
  • 202700_PM_s_at
  • 202700_s_at
  • 214833_3p_at
  • 214833_PM_at
  • 214833_at
  • 215583_PM_at
  • 215583_at
  • 2458518
  • 2458519
  • 2458520
  • 2458521
  • 2458522
  • 2458523
  • 2458524
  • 2458525
  • 2458527
  • 2458528
  • 2458531
  • 2458533
  • 2458536
  • 2458537
  • 2458538
  • 2458540
  • 2458542
  • 2458543
  • 2458544
  • 2458545
  • 2458546
  • 2458547
  • 2458548
  • 2458549
  • 2458550
  • 2458552
  • 2458553
  • 2458554
  • 2458555
  • 2458556
  • 2458557
  • 2458559
  • 2458560
  • 2458563
  • 2458564
  • 2458565
  • 2458567
  • 2458568
  • 2458569
  • 2458570
  • 2458571
  • 2458575
  • 2458576
  • 35442_at
  • 39339_at
  • 7924636
  • 9725
  • A_23_P200489
  • A_33_P3216605
  • GE53492
  • GO:0003676
  • GO:0005227
  • GO:0005515
  • GO:0005764
  • GO:0005765
  • GO:0005768
  • GO:0005886
  • GO:0006811
  • GO:0007040
  • GO:0008381
  • GO:0016020
  • GO:0031901
  • GO:0034220
  • GO:0034451
  • GO:0035579
  • GO:0055085
  • GO:0070062
  • GO:0070821
  • GO:0098655
  • GO:0098772
  • GO:0140299
  • GO:0160069
  • GO:1990760
  • HMNXSV003000093
  • HMNXSV003000122
  • HMNXSV003003932
  • Hs.119387.0.S1_3p_a_at
  • Hs.169431.0.S1_3p_x_at
  • Hs.287529.0.S1_3p_at
  • ILMN_1719649
  • PH_hs_0006589
  • PH_hs_0040207
  • TC01003892.hg
  • g7662307_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • TM63A_HUMAN
  • Q53GI7
  • Q5TE96
  • Q8N2U2
sequenceLength 807
species [Species:48887] Homo sapiens
stId uniprot:O94886
url http://purl.uniprot.org/uniprot/O94886
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