CSCL2_HUMAN
ID CSCL2_HUMAN Reviewed; 832 AA.
AC Q5T3F8; B9EGU3; Q5T3F9; Q6AHX4; Q6P5A0; Q8N219; Q8NDE1; Q9NSG5;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=CSC1-like protein 2;
DE AltName: Full=Transmembrane protein 63B;
GN Name=TMEM63B; Synonyms=C6orf110;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Thymus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 186-832 (ISOFORM 3), AND VARIANT MET-307.
RC TISSUE=Endometrial adenocarcinoma, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain, and Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-114, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-111, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Acts as an osmosensitive calcium-permeable cation channel (By
CC similarity). Mechanosensitive ion channel that converts mechanical
CC stimuli into a flow of ion (By similarity).
CC {ECO:0000250|UniProtKB:Q3TWI9}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q3TWI9};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5T3F8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T3F8-2; Sequence=VSP_023889, VSP_023890;
CC Name=3;
CC IsoId=Q5T3F8-3; Sequence=VSP_023891, VSP_023892;
CC -!- SIMILARITY: Belongs to the CSC1 (TC 1.A.17) family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAH10540.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AK093629; BAC04207.1; -; mRNA.
DR EMBL; AL353957; CAB89257.1; -; mRNA.
DR EMBL; AL834238; CAD38916.1; -; mRNA.
DR EMBL; CR627460; CAH10540.1; ALT_FRAME; mRNA.
DR EMBL; AL365192; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062989; AAH62989.1; -; mRNA.
DR EMBL; BC136769; AAI36770.1; -; mRNA.
DR CCDS; CCDS34461.1; -. [Q5T3F8-1]
DR PIR; T48692; T48692.
DR RefSeq; NP_001305721.1; NM_001318792.1. [Q5T3F8-1]
DR RefSeq; NP_060896.1; NM_018426.2. [Q5T3F8-1]
DR RefSeq; XP_005249270.1; XM_005249213.4. [Q5T3F8-1]
DR RefSeq; XP_005249274.1; XM_005249217.1. [Q5T3F8-1]
DR RefSeq; XP_006715198.1; XM_006715135.1. [Q5T3F8-1]
DR RefSeq; XP_016866489.1; XM_017011000.1. [Q5T3F8-1]
DR AlphaFoldDB; Q5T3F8; -.
DR BioGRID; 120640; 150.
DR IntAct; Q5T3F8; 92.
DR MINT; Q5T3F8; -.
DR STRING; 9606.ENSP00000259746; -.
DR TCDB; 1.A.17.5.3; the calcium-dependent chloride channel (ca-clc) family.
DR iPTMnet; Q5T3F8; -.
DR PhosphoSitePlus; Q5T3F8; -.
DR SwissPalm; Q5T3F8; -.
DR BioMuta; TMEM63B; -.
DR DMDM; 74744754; -.
DR EPD; Q5T3F8; -.
DR jPOST; Q5T3F8; -.
DR MassIVE; Q5T3F8; -.
DR MaxQB; Q5T3F8; -.
DR PaxDb; Q5T3F8; -.
DR PeptideAtlas; Q5T3F8; -.
DR PRIDE; Q5T3F8; -.
DR ProteomicsDB; 64388; -. [Q5T3F8-1]
DR ProteomicsDB; 64389; -. [Q5T3F8-2]
DR ProteomicsDB; 64390; -. [Q5T3F8-3]
DR Antibodypedia; 30591; 35 antibodies from 13 providers.
DR DNASU; 55362; -.
DR Ensembl; ENST00000259746.13; ENSP00000259746.9; ENSG00000137216.19. [Q5T3F8-1]
DR Ensembl; ENST00000323267.11; ENSP00000327154.6; ENSG00000137216.19. [Q5T3F8-1]
DR GeneID; 55362; -.
DR KEGG; hsa:55362; -.
DR MANE-Select; ENST00000323267.11; ENSP00000327154.6; NM_018426.3; NP_060896.1.
DR UCSC; uc003owr.4; human. [Q5T3F8-1]
DR CTD; 55362; -.
DR DisGeNET; 55362; -.
DR GeneCards; TMEM63B; -.
DR HGNC; HGNC:17735; TMEM63B.
DR HPA; ENSG00000137216; Low tissue specificity.
DR neXtProt; NX_Q5T3F8; -.
DR OpenTargets; ENSG00000137216; -.
DR PharmGKB; PA134911221; -.
DR VEuPathDB; HostDB:ENSG00000137216; -.
DR eggNOG; KOG1134; Eukaryota.
DR GeneTree; ENSGT00940000157084; -.
DR InParanoid; Q5T3F8; -.
DR OMA; QAYRYNL; -.
DR OrthoDB; 395194at2759; -.
DR PhylomeDB; Q5T3F8; -.
DR TreeFam; TF324300; -.
DR PathwayCommons; Q5T3F8; -.
DR SignaLink; Q5T3F8; -.
DR BioGRID-ORCS; 55362; 17 hits in 1081 CRISPR screens.
DR GenomeRNAi; 55362; -.
DR Pharos; Q5T3F8; Tdark.
DR PRO; PR:Q5T3F8; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5T3F8; protein.
DR Bgee; ENSG00000137216; Expressed in cardiac muscle of right atrium and 182 other tissues.
DR ExpressionAtlas; Q5T3F8; baseline and differential.
DR Genevisible; Q5T3F8; HS.
DR GO; GO:0015629; C:actin cytoskeleton; IDA:HPA.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0005227; F:calcium activated cation channel activity; ISS:UniProtKB.
DR GO; GO:0008381; F:mechanosensitive ion channel activity; ISS:UniProtKB.
DR GO; GO:1990760; F:osmolarity-sensing cation channel activity; ISS:UniProtKB.
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 1: Evidence at protein level;
KW Alternative splicing; Calcium; Cell membrane; Ion channel; Ion transport;
KW Membrane; Phosphoprotein; Reference proteome; Transmembrane;
KW Transmembrane helix; Transport.
FT CHAIN 1..832
FT /note="CSC1-like protein 2"
FT /id="PRO_0000280728"
FT TRANSMEM 41..61
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 158..178
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 203..223
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 435..455
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 481..501
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 521..541
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 560..580
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 630..650
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 678..698
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 711..731
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 780..814
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 111
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 113
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3TWI9"
FT MOD_RES 114
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 115
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3TWI9"
FT VAR_SEQ 472..491
FT /note="NPIITQFFPTLLLWCFSALL -> VRPHAPVTFHAGSQHTDTRP (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023889"
FT VAR_SEQ 492..832
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023890"
FT VAR_SEQ 704
FT /note="G -> D (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_023891"
FT VAR_SEQ 705..832
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_023892"
FT VARIANT 307
FT /note="V -> M (in dbSNP:rs4714759)"
FT /evidence="ECO:0000269|PubMed:17974005"
FT /id="VAR_031192"
FT CONFLICT 298
FT /note="F -> L (in Ref. 1; BAC04207)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 832 AA; 94958 MW; 8F28F9DBBA1A6A62 CRC64;
MLPFLLATLG TTALNNSNPK DYCYSARIRS TVLQGLPFGG VPTVLALDFM CFLALLFLFS
ILRKVAWDYG RLALVTDADR LRRQERDRVE QEYVASAMHG DSHDRYERLT SVSSSVDFDQ
RDNGFCSWLT AIFRIKDDEI RDKCGGDAVH YLSFQRHIIG LLVVVGVLSV GIVLPVNFSG
DLLENNAYSF GRTTIANLKS GNNLLWLHTS FAFLYLLLTV YSMRRHTSKM RYKEDDLVKR
TLFINGISKY AESEKIKKHF EEAYPNCTVL EARPCYNVAR LMFLDAERKK AERGKLYFTN
LQSKENVPTM INPKPCGHLC CCVVRGCEQV EAIEYYTKLE QKLKEDYKRE KEKVNEKPLG
MAFVTFHNET ITAIILKDFN VCKCQGCTCR GEPRPSSCSE SLHISNWTVS YAPDPQNIYW
EHLSIRGFIW WLRCLVINVV LFILLFFLTT PAIIITTMDK FNVTKPVEYL NNPIITQFFP
TLLLWCFSAL LPTIVYYSAF FEAHWTRSGE NRTTMHKCYT FLIFMVLLLP SLGLSSLDLF
FRWLFDKKFL AEAAIRFECV FLPDNGAFFV NYVIASAFIG NAMDLLRIPG LLMYMIRLCL
ARSAAERRNV KRHQAYEFQF GAAYAWMMCV FTVVMTYSIT CPIIVPFGLM YMLLKHLVDR
YNLYYAYLPA KLDKKIHSGA VNQVVAAPIL CLFWLLFFST MRTGFLAPTS MFTFVVLVIT
IVICLCHVCF GHFKYLSAHN YKIEHTETDT VDPRSNGRPP TAAAVPKSAK YIAQVLQDSE
VDGDGDGAPG SSGDEPPSSS SQDEELLMPP DALTDTDFQS CEDSLIENEI HQ
