ID A0A2R8YGW0_HUMAN Unreviewed; 590 AA. AC A0A2R8YGW0; DT 20-JUN-2018, integrated into UniProtKB/TrEMBL. DT 20-JUN-2018, sequence version 1. DT 13-FEB-2019, entry version 6. DE RecName: Full=Chloride channel protein {ECO:0000256|RuleBase:RU361221}; DE Flags: Fragment; GN Name=CLCN5 {ECO:0000313|Ensembl:ENSP00000496353}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606 {ECO:0000313|Ensembl:ENSP00000496353, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000496353, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15772651; DOI=10.1038/nature03440; RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., RA Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., RA Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., RA Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., RA Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., RA Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., RA Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., RA Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., RA Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., RA Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., RA Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., RA Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., RA Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., RA Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., RA Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., RA Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., RA Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., RA Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., RA Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., RA Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., RA Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., RA Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., RA Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., RA Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., RA de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., RA Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., RA Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., RA Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., RA Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., RA Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., RA Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., RA Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., RA Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., RA Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., RA Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., RA Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., RA Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., RA Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., RA Williams G., Williams L., Williamson A., Williamson H., Wilming L., RA Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., RA Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., RA Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., RA Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., RA Gibbs R.A., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence of the human X chromosome."; RL Nature 434:325-337(2005). RN [2] {ECO:0000213|PubMed:25944712} RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., RA Ayoub D., Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). RN [3] {ECO:0000313|Ensembl:ENSP00000496353} RP IDENTIFICATION. RG Ensembl; RL Submitted (APR-2018) to UniProtKB. CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000256|RuleBase:RU361221}; CC Multi-pass membrane protein {ECO:0000256|RuleBase:RU361221}. CC -!- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family. CC {ECO:0000256|RuleBase:RU361221, ECO:0000256|SAAS:SAAS00594782}. CC -!- CAUTION: Lacks conserved residue(s) required for the propagation CC of feature annotation. {ECO:0000256|RuleBase:RU361221}. 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; AC231645; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC236430; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR Ensembl; ENST00000642383; ENSP00000496353; ENSG00000171365. DR HGNC; HGNC:2023; CLCN5. DR OpenTargets; ENSG00000171365; -. DR GeneTree; ENSGT00940000153763; -. DR Proteomes; UP000005640; Chromosome X. DR ExpressionAtlas; A0A2R8YGW0; baseline and differential. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005247; F:voltage-gated chloride channel activity; IEA:UniProtKB-UniRule. DR Gene3D; 1.10.3080.10; -; 2. DR InterPro; IPR000644; CBS_dom. DR InterPro; IPR014743; Cl-channel_core. DR InterPro; IPR001807; Cl-channel_volt-gated. DR Pfam; PF00571; CBS; 2. DR Pfam; PF00654; Voltage_CLC; 2. DR PRINTS; PR00762; CLCHANNEL. DR SMART; SM00116; CBS; 2. DR SUPFAM; SSF81340; SSF81340; 1. DR PROSITE; PS51371; CBS; 2. PE 1: Evidence at protein level; KW CBS domain {ECO:0000256|PROSITE-ProRule:PRU00703}; KW Chloride {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523295}; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Ion transport {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523481}; KW Membrane {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523314}; KW Proteomics identification {ECO:0000213|MaxQB:A0A2R8YGW0, KW ECO:0000213|PeptideAtlas:A0A2R8YGW0}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}; KW Transmembrane {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523314}; KW Transmembrane helix {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523314}; KW Transport {ECO:0000256|RuleBase:RU361221, KW ECO:0000256|SAAS:SAAS00523481}. FT SIGNAL 1 21 {ECO:0000256|SAM:SignalP}. FT CHAIN 22 590 Chloride channel protein. FT {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5015308446. FT TRANSMEM 62 86 Helical. {ECO:0000256|RuleBase:RU361221}. FT TRANSMEM 136 155 Helical. {ECO:0000256|RuleBase:RU361221}. FT TRANSMEM 175 192 Helical. {ECO:0000256|RuleBase:RU361221}. FT TRANSMEM 251 272 Helical. {ECO:0000256|RuleBase:RU361221}. FT DOMAIN 430 494 CBS. {ECO:0000259|PROSITE:PS51371}. FT DOMAIN 526 586 CBS. {ECO:0000259|PROSITE:PS51371}. FT NON_TER 1 1 {ECO:0000313|Ensembl:ENSP00000496353}. SQ SEQUENCE 590 AA; 65359 MW; E038DBFD1AF5BE0F CRC64; IIRGYLGKWT LVIKTITLVL AVSSGLSLGK EGPLVHVACC CGNILCHCFN KYRKNEAKRR EVLSAAAAAG VSVAFGAPIG GVLFSLEEVS YYFPLKTLWR SFFAALVAAF TLRSINPFGN SRLVLFYVEF HTPWHLFELV PFILLGIFGG LWGALFIRTN IAWCRKRKTT QLGKYPVIEV LVVTAITAIL AFPNEYTRMS TSELISELFN DCGLLDSSKL CDYENRFNTS KGGELPDRPA GVGVYSAMWQ LALTLILKIV ITIFTFGMKA QFLPPVLCWS GEFRLLPDGP RIRIPSGLFI PSMAVGAIAG RLLGVGMEQL AYYHQEWTVF NSWCSQGADC ITPGLYAMVG AAACLGGVTR MTVSLVVIMF ELTGGLEYIV PLMAAAMTSK WVADALGREG IYDAHIRLNG YPFLEAKEEF AHKTLAMDVM KPRRNDPLLT VLTQDSMTVE DVETIISETT YSGFPVVVSR ESQRLVGFVL RRDLIISIEN ARKKQDGVVS TSIIYFTEHS PPLPPYTPPT LKLRNILDLS PFTVTDLTPM EIVVDIFRKL GLRQCLVTHN GRLLGIITKK DVLKHIAQMA NQDPDSILFN //