H(+)/Cl(-) exchange transporter 7

• Chloride channel 7 alpha subunit
• Chloride channel protein 7
• ClC-7

>lcl|BSEQ0009056|H(+)/Cl(-) exchange transporter 7
MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMS
SVELDDELLDPDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFR
TVEIKRWVICALIGILTGLVACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWA
TLNAAFVLVGSVIVAFIEPVAAGSGIPQIKCFLNGVKIPHVVRLKTLVIKVSGVILSVVG
GLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFRRDTEKRDFVSAGAAAGVSAA
FGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMWDLSSPGLINF
GRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHD
PPGSYNPLTLGLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAI
WADPGKYALMGAAAQLGGIVRMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEG
LYDMHIQLQSVPFLHWEAPVTSHSLTAREVMSTPVTCLRRREKVGVIVDVLSDTASNHNG
FPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLGLVQRRLRLKDFRDAYPRFPP
IQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLVVVDNRNQVVG
LVTRKDLARYRLGKRGLEELSLAQT

• CBS (PF00571 )
• Voltage_CLC (PF00654 )

>lcl|BSEQ0019712|H(+)/Cl(-) exchange transporter 7 (CLCN7)
ATGGCCAACGTCTCTAAGAAGGTGTCCTGGTCCGGCCGGGACCGGGACGACGAGGAGGCG
GCGCCGCTGCTGCGGAGGACGGCGCGGCCCGGCGGGGGGACGCCGCTGCTGAACGGGGCT
GGGCCTGGGGCTGCGCGCCAGGATATGGACCCTCCACATCCCTTCCCCAAGGAGATCCCA
CACAACGAGAAGCTCCTGTCCCTCAAGTATGAGAGCTTGGACTATGACAACAGTGAGAAC
CAGCTGTTCCTGGAGGAGGAGCGGCGGATCAATCACACGGCCTTCCGGACGGTGGAGATC
AAGCGCTGGGTCATCTGCGCCCTCATTGGGATCCTCACGGGCCTCGTGGCCTGCTTCATT
GACATCGTGGTGGAAAACCTGGCTGGCCTCAAGTACAGGGTCATCAAGGGCAATATCGAC
AAGTTCACAGAGAAGGGCGGACTGTCCTTCTCCCTGTTGCTGTGGGCCACGCTGAACGCC
GCCTTCGTGCTCGTGGGCTCTGTGATTGTGGCTTTCATAGAGCCGGTGGCTGCTGGCAGC
GGAATCCCCCAGATCAAGTGCTTCCTCAACGGGGTGAAGATCCCCCACGTGGTGCGGCTC
AAGACGTTGGTGATCAAAGTGTCCGGTGTGATCCTGTCCGTGGTCGGGGGCCTGGCCGTG
GGAAAGGAAGGGCCGATGATCCACTCAGGTTCAGTGATTGCCGCCGGGATCTCTCAGGGA
AGGTCAACGTCACTGAAACGAGATTTCAAGATCTTCGAGTACTTCCGCAGAGACACAGAG
AAGCGGGACTTCGTCTCCGCAGGGGCTGCGGCCGGAGTGTCAGCGGCGTTTGGAGCCCCC
GTGGGTGGGGTCCTGTTCAGCTTGGAGGAGGGTGCGTCCTTCTGGAACCAGTTCCTGACC
TGGAGGATCTTCTTTGCTTCCATGATCTCCACGTTCACCCTGAATTTTGTTCTGAGCATT
TACCACGGGAACATGTGGGACCTGTCCAGCCCAGGCCTCATCAACTTCGGAAGGTTTGAC
TCGGAGAAAATGGCCTACACGATCCACGAGATCCCGGTCTTCATCGCCATGGGCGTGGTG
GGCGGTGTGCTTGGAGCAGTGTTCAATGCCTTGAACTACTGGCTGACCATGTTTCGAATC
AGGTACATCCACCGGCCCTGCCTGCAGGTGATTGAGGCCGTGCTGGTGGCCGCCGTCACG
GCCACAGTTGCCTTCGTGCTGATCTACTCGTCGCGGGATTGCCAGCCCCTGCAGGGGGGC
TCCATGTCCTACCCGCTGCAGCTCTTTTGTGCAGATGGCGAGTACAACTCCATGGCTGCG
GCCTTCTTCAACACCCCGGAGAAGAGCGTGGTGAGCCTCTTCCACGACCCGCCAGGCTCC
TACAACCCCCTGACCCTCGGCCTGTTCACGCTGGTCTACTTCTTCCTGGCCTGCTGGACC
TACGGGCTCACGGTGTCTGCCGGGGTCTTCATCCCGTCCCTGCTCATCGGGGCTGCCTGG
GGCCGGCTCTTTGGGATCTCCCTGTCCTACCTCACGGGGGCGGCGATCTGGGCGGACCCC
GGCAAATACGCCCTGATGGGAGCTGCTGCCCAGCTGGGCGGGATTGTGCGGATGACACTG
AGCCTGACCGTCATCATGATGGAGGCCACCAGCAACGTGACCTACGGCTTCCCCATCATG
CTGGTGCTCATGACCGCCAAGATCGTGGGCGACGTCTTCATTGAGGGCCTGTACGACATG
CACATTCAGCTGCAGAGTGTGCCCTTCCTGCACTGGGAGGCCCCGGTCACCTCACACTCA
CTCACTGCCAGGGAGGTGATGAGCACACCAGTGACCTGCCTGAGGCGGCGTGAGAAGGTC
GGCGTCATTGTGGACGTGCTGAGCGACACGGCGTCCAATCACAACGGCTTCCCCGTGGTG
GAGCATGCCGATGACACCCAGCCTGCCCGGCTCCAGGGCCTGATCCTGCGCTCCCAGCTC
ATCGTTCTCCTAAAGCACAAGGTGTTTGTGGAGCGGTCCAACCTGGGCCTGGTACAGCGG
CGCCTGAGGCTGAAGGACTTCCGAGACGCCTACCCGCGCTTCCCACCCATCCAGTCCATC
CACGTGTCCCAGGACGAGCGGGAGTGCACCATGGACCTCTCCGAGTTCATGAACCCCTCC
CCCTACACGGTGCCCCAGGAGGCGTCGCTCCCACGGGTGTTCAAGCTGTTCCGGGCCCTG
GGCCTGCGGCACCTGGTGGTGGTGGACAACCGCAATCAGGTTGTCGGGTTGGTGACCAGG
AAGGACCTCGCCAGGTACCGCCTGGGAAAGAGAGGCTTGGAGGAGCTCTCGCTGGCCCAG
ACGTGA

1. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
2. Martin J, Han C, Gordon LA, Terry A, Prabhakar S, She X, Xie G, Hellsten U, Chan YM, Altherr M, Couronne O, Aerts A, Bajorek E, Black S, Blumer H, Branscomb E, Brown NC, Bruno WJ, Buckingham JM, Callen DF, Campbell CS, Campbell ML, Campbell EW, Caoile C, Challacombe JF, Chasteen LA, Chertkov O, Chi HC, Christensen M, Clark LM, Cohn JD, Denys M, Detter JC, Dickson M, Dimitrijevic-Bussod M, Escobar J, Fawcett JJ, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Goodwin LA, Grady DL, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Hildebrand CE, Huang W, Israni S, Jett J, Jewett PB, Kadner K, Kimball H, Kobayashi A, Krawczyk MC, Leyba T, Longmire JL, Lopez F, Lou Y, Lowry S, Ludeman T, Manohar CF, Mark GA, McMurray KL, Meincke LJ, Morgan J, Moyzis RK, Mundt MO, Munk AC, Nandkeshwar RD, Pitluck S, Pollard M, Predki P, Parson-Quintana B, Ramirez L, Rash S, Retterer J, Ricke DO, Robinson DL, Rodriguez A, Salamov A, Saunders EH, Scott D, Shough T, Stallings RL, Stalvey M, Sutherland RD, Tapia R, Tesmer JG, Thayer N, Thompson LS, Tice H, Torney DC, Tran-Gyamfi M, Tsai M, Ulanovsky LE, Ustaszewska A, Vo N, White PS, Williams AL, Wills PL, Wu JR, Wu K, Yang J, Dejong P, Bruce D, Doggett NA, Deaven L, Schmutz J, Grimwood J, Richardson P, Rokhsar DS, Eichler EE, Gilna P, Lucas SM, Myers RM, Rubin EM, Pennacchio LA: The sequence and analysis of duplication-rich human chromosome 16. Nature. 2004 Dec 23;432(7020):988-94. 15616553
3. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
4. Brandt S, Jentsch TJ: ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. FEBS Lett. 1995 Dec 11;377(1):15-20. 8543009
5. Eggermont J: The exon-intron architecture of human chloride channel genes is not conserved. Biochim Biophys Acta. 1998 Apr 29;1397(2):156-60. 9565675
6. Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Cell. 2006 Nov 3;127(3):635-48. 17081983
7. Schroder B, Wrocklage C, Pan C, Jager R, Kosters B, Schafer H, Elsasser HP, Mann M, Hasilik A: Integral and associated lysosomal membrane proteins. Traffic. 2007 Dec;8(12):1676-86. Epub 2007 Sep 26. 17897319
8. Graves AR, Curran PK, Smith CL, Mindell JA: The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes. Nature. 2008 Jun 5;453(7196):788-92. doi: 10.1038/nature06907. Epub 2008 Apr 30. 18449189
9. Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP: A quantitative atlas of mitotic phosphorylation. Proc Natl Acad Sci U S A. 2008 Aug 5;105(31):10762-7. doi: 10.1073/pnas.0805139105. Epub 2008 Jul 31. 18669648
10. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. 19690332
11. Leisle L, Ludwig CF, Wagner FA, Jentsch TJ, Stauber T: ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. EMBO J. 2011 Jun 1;30(11):2140-52. doi: 10.1038/emboj.2011.137. Epub 2011 Apr 28. 21527911
12. Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. Sci Signal. 2011 Mar 15;4(164):rs3. doi: 10.1126/scisignal.2001570. 21406692
13. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. 24275569
14. Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ: Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001 Jan 26;104(2):205-15. 11207362
15. Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W: Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7. 11741829
16. Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A: Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct;18(10):1740-7. 14584882
17. Lam CW, Tong SF, Wong K, Luo YF, Tang HY, Ha SY, Chan MH: DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity. J Hum Genet. 2007;52(1):98-101. Epub 2006 Oct 11. 17033731
18. Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C: Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat. 2010 Jan;31(1):E1071-80. doi: 10.1002/humu.21167. 19953639