TMEM63C
entrez
57156
canonical
uniprot
Q9P1W3
canonical
ensembl
ENSG00000165548
resolver
ensp
ENSP00000298351
resolver
ensp
ENSP00000560572
resolver
ensp
ENSP00000560573
resolver
ensp
ENSP00000560574
resolver
ensp
ENSP00000560576
resolver
ensp
ENSP00000627990
resolver
enst
ENST00000298351
resolver
enst
ENST00000890513
resolver
enst
ENST00000890514
resolver
enst
ENST00000890515
resolver
enst
ENST00000890517
resolver
enst
ENST00000957931
resolver
genesymbol
TMEM63C
resolver
genesymbol_syn
C14orf171
resolver
genesymbol_syn
CSC1
resolver
hgnc
HGNC:23787
resolver
uniprot
B2RN22
resolver
uniprot
B3KWJ5
resolver
uniprot
Q86TS3
resolver
uniprot
Q86TS4
resolver
uniprot
Q9NSQ4
resolver
uniprot
Q9P1W1
resolver
uniprot_entry
TM63C_HUMAN
resolver
uniprot_sec
B2RN22
resolver
uniprot_sec
B3KWJ5
resolver
uniprot_sec
Q86TS3
resolver
uniprot_sec
Q86TS4
resolver
uniprot_sec
Q9NSQ4
resolver
uniprot_sec
Q9P1W1
resolver
activity_regulation
ACTIVITY REGULATION: Activated by hyperosmotic shock after mannitol treatment. {ECO:0000269|PubMed:24503647}.
uniprot
proteins
amino_acid_sequence
MSASPDDLSTGGRLQNMTVDECFQSRNTVLQGQPFGGVPTVLCLNIALWVLVLVVYSFLRKAAWDYGRLALLIHNDSLTSLIYGEQSEKTSPSETSLEMERRDKGFCSWFFNSITMKDEDLINKCGDDARIYIVFQYHLIIFVLIICIPSLGIILPINYTGSVLDWSSHFARTTIVNVSTESKLLWLHSLLSFFYFITNFMFMAHHCLGFAPRNSQKVTRTLMITYVPKDIEDPELIIKHFHEAYPGSVVTRVHFCYDVRNLIDLDDQRRHAMRGRLFYTAKAKKTGKVMIRIHPCARLCFCKCWTCFKEVDAEQYYSELEEQLTDEFNAELNRVPLKRLDLIFVTFQDSRMAKRVRKDYKYVQCGVQPQQSSVTTIVKSYYWRVTMAPHPKDIIWKHLSVRRFFWWARFIAINTFLFFLFFFLTTPAIIMNTIDMYNVTRPIEKLQNPIVTQFFPSVMLWGFTVILPLIVYFSAFLEAHWTRSSQNLVMVHKCYIFLVFMVVILPSMGLTSLDVFLRWLFDIYYLEQASIRFQCVFLPDNGAFFVNYVITAALLGTGMELLRLGSLFCYSTRLFFSRSEPERVNIRKNQAIDFQFGREYAWMMNVFSVVMAYSITCPIIVPFGLLYLCMKHLTDRYNMYYSFAPTKLNEQIHMAAVSQAIFAPLLGLFWMLFFSILRLGSLHAITIFSLSTLLIAMVIAFVGIFLGKLRMVADYEPEEEEIQTVFDMEPSSTSSTPTSLLYVATVLQEPELNLTPASSPARHTYGTMNNQPEEGEEESGLRGFARELDSAQFQEGLELEGQNQYH
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 87, autosomal recessive (SPG87) [MIM:619966]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG87 is characterized by onset of lower limb spasticity in infancy or early childhood, and lack of upper limbs and bulbar regions involvement. Affected individuals have mildly delayed walking, spastic gait, and hyperreflexia. Some patients may also have mild intellectual disability or speech problems. {ECO:0000269|PubMed:35718349}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress (PubMed:24503647, PubMed:35718349). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Enriched in mitochondria-ER contact sites where it may regulate the metabolite flux and organelles' morphologies in response to osmotic changes (PubMed:35718349). In particular may regulate mitochondrial motility and function in motor neuron axons (PubMed:35718349). Required for the functional integrity of the kidney glomerular filtration barrier (By similarity). {ECO:0000250|UniProtKB:D3ZNF5, ECO:0000269|PubMed:24503647, ECO:0000269|PubMed:35718349, ECO:0000269|PubMed:39716028}.
uniprot
proteins
mass_dalton
93317
uniprot
proteins
protein_family
CSC1 (TC 1.A.17) family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24503647
uniprot
proteins
pubmed
30900988
uniprot
proteins
pubmed
35718349
uniprot
proteins
pubmed
36076346
uniprot
proteins
pubmed
37543036
uniprot
proteins
pubmed
39716028
uniprot
proteins
sequence_length
806
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:35718349}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:39716028}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes at mitochondria-ER contact sites. {ECO:0000269|PubMed:35718349}.
uniprot
proteins
transmembrane_region
TRANSMEM 38..62; /note="Helical; Name=TM0"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 127..159; /note="Helical; Name=TM1"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 183..207; /note="Helical; Name=TM2"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 404..433; /note="Helical; Name=TM3"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 449..478; /note="Helical; Name=TM4"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 483..519; /note="Helical; Name=TM5"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 543..575; /note="Helical; Name=TM6"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 596..614; /note="Helical; Name=TM7"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 618..642; /note="Helical; Name=TM8"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 650..678; /note="Helical; Name=TM9"; /evidence="ECO:0000250|UniProtKB:Q8CBX0"; TRANSMEM 684..704; /note="Helical; Name=TM10"; /evidence="ECO:0000250|UniProtKB:Q8CBX0
uniprot
proteins