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| Accession Number: | P51798 |
| Protein Name: | Chloride channel protein 7 aka ClC-7 |
| Length: | 805 |
| Molecular Weight: | 88679.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 10 |
| Location1 / Topology2 / Orientation3: | Lysosome membrane1 / Multi-pass membrane protein2 |
| Substrate | chloride |
Cross database links:
| RefSeq: | NP_001107803.1 NP_001278.1 |
|---|---|
| Entrez Gene ID: | 1186 |
| Pfam: | PF00571 PF00654 |
| OMIM: |
166600 phenotype 602727 gene 611490 phenotype |
| KEGG: | hsa:1186 |
Gene Ontology
GO:0016021
C:integral to membrane
GO:0005765
C:lysosomal membrane
GO:0015297
F:antiporter activity
GO:0005524
F:ATP binding
GO:0005247
F:voltage-gated chloride channel activity
GO:0006821
P:chloride transport
GO:0055085
P:transmembrane transport
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References (11)[1] “Complete sequencing and characterization of 21,243 full-length human cDNAs.” Ota T.et.al. 14702039 [2] “The sequence and analysis of duplication-rich human chromosome 16.” Martin J.et.al. 15616553 [3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” The MGC Project Teamet.al. 15489334 [4] “ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.” Brandt S.et.al. 8543009 [5] “The exon-intron architecture of human chloride channel genes is not conserved.” Eggermont J.et.al. 9565675 [6] “Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.” Olsen J.V.et.al. 17081983 [7] “The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.” Graves A.R.et.al. 18449189 [8] “Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.” Kornak U.et.al. 11207362 [9] “Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.” Cleiren E.et.al. 11741829 [10] “Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.” Frattini A.et.al. 14584882 [11] “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.” Lam C.-W.et.al. 17033731
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| Structure: | |
External Searches:
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Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
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1: MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR SALFRVGHMS 61: SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD NSENQLFLEE ERRINHTAFR 121: TVEIKRWVIC ALIGILTGLV ACFIDIVVEN LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA 181: TLNAAFVLVG SVIVAFIEPV AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG 241: GLAVGKEGPM IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA 301: FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW DLSSPGLINF 361: GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT MFRIRYIHRP CLQVIEAVLV 421: AAVTATVAFV LIYSSRDCQP LQGGSMSYPL QLFCADGEYN SMAAAFFNTP EKSVVSLFHD 481: PPGSYNPLTL GLFTLVYFFL ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI 541: WADPGKYALM GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG 601: LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV LSDTASNHNG 661: FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG LVQRRLRLKD FRDAYPRFPP 721: IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ EASLPRVFKL FRALGLRHLV VVDNRNQVVG 781: LVTRKDLARY RLGKRGLEEL SLAQT