TMEM63B
entrez
55362
canonical
uniprot
Q5T3F8
canonical
ensembl
ENSG00000137216
resolver
ensp
ENSP00000259746
resolver
ensp
ENSP00000327154
resolver
ensp
ENSP00000542151
resolver
ensp
ENSP00000542152
resolver
ensp
ENSP00000542153
resolver
ensp
ENSP00000542155
resolver
ensp
ENSP00000542157
resolver
ensp
ENSP00000600336
resolver
ensp
ENSP00000600338
resolver
ensp
ENSP00000600339
resolver
genesymbol
TMEM63B
resolver
genesymbol_syn
C6orf110
resolver
hgnc
HGNC:17735
resolver
uniprot
B9EGU3
resolver
uniprot
Q5T3F9
resolver
uniprot
Q6AHX4
resolver
uniprot
Q6P5A0
resolver
uniprot
Q8N219
resolver
uniprot
Q8NDE1
resolver
uniprot
Q9NSG5
resolver
uniprot_entry
TM63B_HUMAN
resolver
uniprot_sec
B9EGU3
resolver
uniprot_sec
Q5T3F9
resolver
uniprot_sec
Q6AHX4
resolver
uniprot_sec
Q6P5A0
resolver
uniprot_sec
Q8N219
resolver
uniprot_sec
Q8NDE1
resolver
uniprot_sec
Q9NSG5
resolver
amino_acid_sequence
MLPFLLATLGTTALNNSNPKDYCYSARIRSTVLQGLPFGGVPTVLALDFMCFLALLFLFSILRKVAWDYGRLALVTDADRLRRQERDRVEQEYVASAMHGDSHDRYERLTSVSSSVDFDQRDNGFCSWLTAIFRIKDDEIRDKCGGDAVHYLSFQRHIIGLLVVVGVLSVGIVLPVNFSGDLLENNAYSFGRTTIANLKSGNNLLWLHTSFAFLYLLLTVYSMRRHTSKMRYKEDDLVKRTLFINGISKYAESEKIKKHFEEAYPNCTVLEARPCYNVARLMFLDAERKKAERGKLYFTNLQSKENVPTMINPKPCGHLCCCVVRGCEQVEAIEYYTKLEQKLKEDYKREKEKVNEKPLGMAFVTFHNETITAIILKDFNVCKCQGCTCRGEPRPSSCSESLHISNWTVSYAPDPQNIYWEHLSIRGFIWWLRCLVINVVLFILLFFLTTPAIIITTMDKFNVTKPVEYLNNPIITQFFPTLLLWCFSALLPTIVYYSAFFEAHWTRSGENRTTMHKCYTFLIFMVLLLPSLGLSSLDLFFRWLFDKKFLAEAAIRFECVFLPDNGAFFVNYVIASAFIGNAMDLLRIPGLLMYMIRLCLARSAAERRNVKRHQAYEFQFGAAYAWMMCVFTVVMTYSITCPIIVPFGLMYMLLKHLVDRYNLYYAYLPAKLDKKIHSGAVNQVVAAPILCLFWLLFFSTMRTGFLAPTSMFTFVVLVITIVICLCHVCFGHFKYLSAHNYKIEHTETDTVDPRSNGRPPTAAAVPKSAKYIAQVLQDSEVDGDGDGAPGSSGDEPPSSSSQDEELLMPPDALTDTDFQSCEDSLIENEIHQ
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 118 (DEE118) [MIM:621250]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE118 is an autosomal dominant form characterized by early-onset refractory epilepsy, severe global developmental delay, intellectual disability, and severe motor and cortical visual impairment associated with progressive neurodegenerative brain changes. {ECO:0000269|PubMed:37421948, ECO:0000269|PubMed:39217145, ECO:0000269|PubMed:39424995, ECO:0000269|PubMed:39716028}. 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:37543036, PubMed:38127458). Osmosensitive cation channel preferentially activated by hypotonic stress (PubMed:37543036, PubMed:38127458). Also acts as a phospholipid scramblase in response to changes in membrane structure: upon changes in membrane curvature and thickness, alters its conformation and translocates phospholipids, such as phosphatidylcholine and sphingomyelin, thereby controlling plasma membrane lipid distribution (PubMed:39217145, PubMed:39424995, PubMed:39716028). Forms a heterodimer with SLC19A2, which mediates phospholipid scramblase activity following Ca(2+) stimulation (By similarity). Expressed in excitatory neurons of the subfornical organ and functions as a thirst receptor that mediates neuronal response to hyperosmolality to drive thirst and drinking behavior (By similarity). Facilitates intestinal motility by promoting proliferation of intestinal stem cells (By similarity). Essential 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). Acts as an osmosensor in cochlear outer hair cells (OHCs) where it mediates calcium influx and regulatory volume decrease response (By similarity). Required for the maintenance of OHC morphology, OHC survival and normal hearing (By similarity). {ECO:0000250|UniProtKB:Q3TWI9, ECO:0000269|PubMed:37543036, ECO:0000269|PubMed:38127458, ECO:0000269|PubMed:39217145, ECO:0000269|PubMed:39424995, ECO:0000269|PubMed:39716028}.
uniprot
proteins
mass_dalton
94958
uniprot
proteins
mutagenesis
MUTAGEN 584; /note="D->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: Palmitoylation is required for localization to the plasma membrane and stability. {ECO:0000250|UniProtKB:Q3TWI9}.; PTM: N-Glycosylated. {ECO:0000269|PubMed:37543036}.
uniprot
proteins
protein_family
CSC1 (TC 1.A.17) family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
37421948
uniprot
proteins
pubmed
37543036
uniprot
proteins
pubmed
38127458
uniprot
proteins
pubmed
38570680
uniprot
proteins
pubmed
39217145
uniprot
proteins
pubmed
39424995
uniprot
proteins
pubmed
39716028
uniprot
proteins
sequence_length
832
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:37421948, ECO:0000269|PubMed:37543036, ECO:0000269|PubMed:38127458, ECO:0000269|PubMed:39217145, ECO:0000269|PubMed:39716028}; Multi-pass membrane protein {ECO:0000269|PubMed:37543036}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q3TWI9}; Multi-pass membrane protein {ECO:0000269|PubMed:37543036}. Lysosome membrane {ECO:0000269|PubMed:39716028}; Multi-pass membrane protein {ECO:0000269|PubMed:37543036}. Early endosome membrane {ECO:0000269|PubMed:38127458}; Multi-pass membrane protein {ECO:0000269|PubMed:37543036}. Note=Colocalizes with cortical F-actin (By similarity). Localizes at lamellar body membrane in alveolar type 2 cells (By similarity). {ECO:0000250|UniProtKB:Q3TWI9}.
uniprot
proteins
transmembrane_region
TRANSMEM 41..65; /note="Helical; Name=TM0"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 146..178; /note="Helical; Name=TM1"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 203..227; /note="Helical; Name=TM2"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 428..457; /note="Helical; Name=TM3"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 473..502; /note="Helical; Name=TM4"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 507..543; /note="Helical; Name=TM5"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 567..599; /note="Helical; Name=TM6"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 620..638; /note="Helical; Name=TM7"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 642..666; /note="Helical; Name=TM8"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 674..702; /note="Helical; Name=TM9"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX"; TRANSMEM 708..728; /note="Helical; Name=TM10"; /evidence="ECO:0000305|PubMed:37543036, ECO:0007744|PDB:8EHX
uniprot
proteins