CSC1_DANRE
ID CSC1_DANRE Reviewed; 825 AA.
AC X1WEM4;
DT 26-FEB-2020, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2016, sequence version 1.
DT 03-AUG-2022, entry version 35.
DE RecName: Full=Calcium permeable stress-gated cation channel 1;
DE AltName: Full=Transmembrane protein 63c;
GN Name=tmem63c; Synonyms=csc1;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=30900988; DOI=10.7554/elife.42068;
RA Schulz A., Mueller N.V., van de Lest N.A., Eisenreich A., Schmidbauer M.,
RA Barysenka A., Purfuerst B., Sporbert A., Lorenzen T., Meyer A.M.,
RA Herlan L., Witten A., Ruehle F., Zhou W., de Heer E., Scharpfenecker M.,
RA Panakova D., Stoll M., Kreutz R.;
RT "Analysis of the genomic architecture of a complex trait locus in
RT hypertensive rat models links Tmem63c to kidney damage.";
RL Elife 8:0-0(2019).
CC -!- FUNCTION: Acts as an osmosensitive calcium-permeable cation channel (By
CC similarity). Required for the functional integrity of the kidney
CC glomerular filtration barrier (PubMed:30900988).
CC {ECO:0000250|UniProtKB:Q9P1W3, ECO:0000269|PubMed:30900988}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8CBX0};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown induced a glomerular
CC filtration barrier defect. {ECO:0000269|PubMed:30900988}.
CC -!- SIMILARITY: Belongs to the CSC1 (TC 1.A.17) family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; BX546474; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_005158939.1; XM_005158882.3.
DR AlphaFoldDB; X1WEM4; -.
DR SMR; X1WEM4; -.
DR STRING; 7955.ENSDARP00000128675; -.
DR PaxDb; X1WEM4; -.
DR Ensembl; ENSDART00000156260; ENSDARP00000128675; ENSDARG00000004158.
DR GeneID; 100000800; -.
DR CTD; 57156; -.
DR ZFIN; ZDB-GENE-120928-2; tmem63c.
DR eggNOG; KOG1134; Eukaryota.
DR GeneTree; ENSGT00940000159072; -.
DR OMA; QGIGMFP; -.
DR OrthoDB; 395194at2759; -.
DR PhylomeDB; X1WEM4; -.
DR PRO; PR:X1WEM4; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 17.
DR Bgee; ENSDARG00000004158; Expressed in brain and 7 other tissues.
DR ExpressionAtlas; X1WEM4; baseline.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; ISS:UniProtKB.
DR GO; GO:0005227; F:calcium activated cation channel activity; IBA:GO_Central.
DR GO; GO:1990760; F:osmolarity-sensing cation channel activity; ISS:UniProtKB.
DR GO; GO:0003094; P:glomerular filtration; IMP:UniProtKB.
DR GO; GO:0032835; P:glomerulus development; IMP:ZFIN.
DR InterPro; IPR045122; Csc1-like.
DR InterPro; IPR032880; Csc1_N.
DR InterPro; IPR027815; PHM7_cyt.
DR InterPro; IPR003864; RSN1_7TM.
DR PANTHER; PTHR13018; PTHR13018; 1.
DR Pfam; PF14703; PHM7_cyt; 1.
DR Pfam; PF02714; RSN1_7TM; 1.
DR Pfam; PF13967; RSN1_TM; 1.
PE 3: Inferred from homology;
KW Calcium; Cell membrane; Ion channel; Ion transport; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..825
FT /note="Calcium permeable stress-gated cation channel 1"
FT /id="PRO_0000448962"
FT TRANSMEM 48..68
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 154..174
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 199..219
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 426..446
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 465..485
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 512..532
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 624..644
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 672..692
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 700..720
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 98..117
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 777..825
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 778..792
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 825 AA; 94430 MW; A6FBA8AE28C1D5EB CRC64;
MAFESWPAGG VRPVEELDVR SFLMEENSTA ERCYRSHSRS SVLQGLPFGG VPTVLAINVV
LWLILLLIFS CLRKAAWDYG RLALLMKNDS LTSLFYGEQS EKEKTPSDSS PSDSETKDMG
FCSWLTSLYH MKDEEIRSKC GIDAVTYLSF QRHIILLMMV VCLLSLTIIL PVNLSGNLLG
DNPENFGRTT VVNVPAQNIF LWLHSIFALL YFVITVLCMA HHSSRLEYRE DEKVARTLMI
TSIPREISDP GLITKHLHEA YPSCTVTDIH FCFNVQKLMK LDSERRKAMK GRLYFTTKAQ
KNGRIMIKTH PCAQIFCCDI CGFEKVDAEQ YYSELEEKLT DEFNAEKNWI SMKRLGIAFV
TFRDERMTAV IVKDYSRARC RHKPQQSSIT TVVRSHQWDV SYAPAPNDII WENLSVCGPR
WWLRCILLNI LLFLLLFFLT TPAIIVNTMD KFNVTRPVES LRNPVITQFF PTLLLWAFSI
LLPFIVYYSS FFEYHWTRSG ENQVTMHKCF LLLVFMVIIL PSLGLSSLNL FFRWLFDVRF
LDETDVKFQC VFLPDNGAFF VNYVITSSLI GTAMELLRIP ALLVYSLRLC FAKSKAECIH
VKISQAYEFQ FGLEYAWTMC IFSVSMTYSI TCPVIVPFGL LYLVLKHMVD RYNIYYAYTP
TKLNQRIHAA AISQVVVAPI LCMFWLLFFS VLRLGPVQPI TLFTFITLLC SIAFSCFGFC
MKKLRADRST SYQMSDQTTE GGFSDAERST ISTTATANLF IASVLLEPEL GLTPMPSPAH
QSYGTMVNSQ SSVRDAEEDE EKDLEETLET ELKDDLLMDS PVAFQ
