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P51798 (CLCN7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 153. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
H(+)/Cl(-) exchange transporter 7
Alternative name(s):
Chloride channel 7 alpha subunit
Chloride channel protein 7
Short name=ClC-7
Gene names
Name:CLCN7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length805 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. Ref.10 Ref.13

Subunit structure

Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits. Ref.13

Subcellular location

Lysosome membrane; Multi-pass membrane protein Ref.9 Ref.10 Ref.13.

Tissue specificity

Brain, testis, muscle and kidney.

Involvement in disease

Osteopetrosis, autosomal recessive 4 (OPTB4) [MIM:611490]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.15 Ref.16 Ref.17 Ref.18 Ref.19

Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.16 Ref.17 Ref.19

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters By similarity.

Sequence similarities

Belongs to the chloride channel (TC 2.A.49) family. ClC-7/CLCN7 subfamily. [View classification]

Contains 2 CBS domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P51798-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P51798-2)

The sequence of this isoform differs from the canonical sequence as follows:
     48-71: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 805805H(+)/Cl(-) exchange transporter 7
PRO_0000094452

Regions

Topological domain1 – 126126Cytoplasmic By similarity
Transmembrane127 – 15933Helical; By similarity
Transmembrane174 – 19724Helical; By similarity
Intramembrane206 – 2138Helical; By similarity
Transmembrane223 – 24119Helical; By similarity
Transmembrane247 – 26418Helical; By similarity
Intramembrane288 – 30013Helical; By similarity
Intramembrane304 – 3129Helical; By similarity
Transmembrane322 – 34120Helical; By similarity
Transmembrane375 – 40531Helical; By similarity
Transmembrane410 – 43223Helical; By similarity
Transmembrane487 – 50721Helical; By similarity
Transmembrane512 – 53524Helical; By similarity
Intramembrane545 – 55915Helical; By similarity
Intramembrane560 – 5623Note=Loop between two helices; By similarity
Intramembrane563 – 57412Helical; By similarity
Intramembrane575 – 5784Note=Loop between two helices; By similarity
Transmembrane579 – 59719Helical; By similarity
Topological domain598 – 805208Cytoplasmic By similarity
Domain631 – 69565CBS 1
Domain741 – 79959CBS 2
Nucleotide binding658 – 6603ATP By similarity
Nucleotide binding783 – 7864ATP By similarity
Motif203 – 2075Selectivity filter part_1 By similarity
Motif245 – 2495Selectivity filter part_2 By similarity
Motif512 – 5165Selectivity filter part_3 By similarity

Sites

Binding site2041Chloride By similarity
Binding site5141Chloride; via amide nitrogen By similarity
Binding site6021Chloride By similarity
Site2471Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport By similarity
Site3141Mediates proton transfer from the protein to the inner aqueous phase By similarity

Amino acid modifications

Modified residue91Phosphoserine By similarity

Natural variations

Alternative sequence48 – 7124Missing in isoform 2.
VSP_045698
Natural variant1321L → P in OPTB4. Ref.19
VAR_064637
Natural variant2141N → S in OPTB4. Ref.19
VAR_064638
Natural variant2151G → R in OPTA2. Ref.17 Ref.19
VAR_020997
Natural variant2271Missing in OPTB4. Ref.19
VAR_064639
Natural variant2401G → R in OPTB4. Ref.17 Ref.19
VAR_020998
Natural variant2491P → R in OPTB4. Ref.17
VAR_020999
Natural variant2611I → F in OPTB4. Ref.18
VAR_037427
Natural variant2861R → Q in OPTA2. Ref.17 Ref.19
VAR_021000
Natural variant3181F → L in OPTA2. Ref.19
VAR_064640
Natural variant3321M → V in OPTB4. Ref.17
VAR_021001
Natural variant4031R → Q in OPTB4. Ref.19
VAR_064641
Natural variant4181V → M. Ref.17
Corresponds to variant rs12926089 [ dbSNP | Ensembl ].
VAR_021002
Natural variant4901L → F in OPTA2. Ref.17
VAR_021003
Natural variant5211G → R in OPTB4. Ref.19
VAR_064642
Natural variant5261R → Q in OPTB4. Ref.19
VAR_064643
Natural variant5261R → W in OPTB4. Ref.17 Ref.19
VAR_021004
Natural variant5491L → P in OPTB4. Ref.19
VAR_064644
Natural variant6141L → P in OPTB4. Ref.17
VAR_021005
Natural variant6511L → P in OPTB4. Ref.19
VAR_064645
Natural variant6771G → V in OPTA2. Ref.17
VAR_021006
Natural variant7441S → F in OPTB4. Ref.17
VAR_021007
Natural variant7581F → L in OPTA2. Ref.19
VAR_064646
Natural variant7621R → Q in OPTA2 and OPTB4; not detected in the fibroblasts from the patient. Ref.15 Ref.19
VAR_017838
Natural variant7621R → W in OPTB4. Ref.19
VAR_064647
Natural variant7661L → P in OPTB4. Ref.16
VAR_017839
Natural variant7671R → P in OPTB4. Ref.19
VAR_064648
Natural variant7671R → Q in OPTB4. Ref.17
VAR_021008
Natural variant7671R → W in OPTA2 and OPTB4. Ref.16 Ref.17 Ref.19
VAR_017840

Experimental info

Sequence conflict741D → V in BAF84825. Ref.2
Sequence conflict2671T → S in CAA91556. Ref.5
Sequence conflict2791F → L in CAA91556. Ref.5
Sequence conflict2791F → L in CAA05083. Ref.6
Sequence conflict3241T → A in BAF84825. Ref.2
Sequence conflict3481N → S in BAG51745. Ref.2
Sequence conflict4151I → V in BAG51745. Ref.2
Sequence conflict7101D → G in BAG51745. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 11, 2001. Version 2.
Checksum: E56BC0B4ADE1C695

FASTA80588,679
        10         20         30         40         50         60 
MANVSKKVSW SGRDRDDEEA APLLRRTARP GGGTPLLNGA GPGAARQSPR SALFRVGHMS 

        70         80         90        100        110        120 
SVELDDELLD PDMDPPHPFP KEIPHNEKLL SLKYESLDYD NSENQLFLEE ERRINHTAFR 

       130        140        150        160        170        180 
TVEIKRWVIC ALIGILTGLV ACFIDIVVEN LAGLKYRVIK GNIDKFTEKG GLSFSLLLWA 

       190        200        210        220        230        240 
TLNAAFVLVG SVIVAFIEPV AAGSGIPQIK CFLNGVKIPH VVRLKTLVIK VSGVILSVVG 

       250        260        270        280        290        300 
GLAVGKEGPM IHSGSVIAAG ISQGRSTSLK RDFKIFEYFR RDTEKRDFVS AGAAAGVSAA 

       310        320        330        340        350        360 
FGAPVGGVLF SLEEGASFWN QFLTWRIFFA SMISTFTLNF VLSIYHGNMW DLSSPGLINF 

       370        380        390        400        410        420 
GRFDSEKMAY TIHEIPVFIA MGVVGGVLGA VFNALNYWLT MFRIRYIHRP CLQVIEAVLV 

       430        440        450        460        470        480 
AAVTATVAFV LIYSSRDCQP LQGGSMSYPL QLFCADGEYN SMAAAFFNTP EKSVVSLFHD 

       490        500        510        520        530        540 
PPGSYNPLTL GLFTLVYFFL ACWTYGLTVS AGVFIPSLLI GAAWGRLFGI SLSYLTGAAI 

       550        560        570        580        590        600 
WADPGKYALM GAAAQLGGIV RMTLSLTVIM MEATSNVTYG FPIMLVLMTA KIVGDVFIEG 

       610        620        630        640        650        660 
LYDMHIQLQS VPFLHWEAPV TSHSLTAREV MSTPVTCLRR REKVGVIVDV LSDTASNHNG 

       670        680        690        700        710        720 
FPVVEHADDT QPARLQGLIL RSQLIVLLKH KVFVERSNLG LVQRRLRLKD FRDAYPRFPP 

       730        740        750        760        770        780 
IQSIHVSQDE RECTMDLSEF MNPSPYTVPQ EASLPRVFKL FRALGLRHLV VVDNRNQVVG 

       790        800 
LVTRKDLARY RLGKRGLEEL SLAQT 

« Hide

Isoform 2 [UniParc].

Checksum: 21BA4E8E144A260C
Show »

FASTA78186,026

References

« Hide 'large scale' references
[1]"Ion channels in lens epithelia."
Rae J.L.
Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Lens epithelium.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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 T.-O., 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Synovium.
[3]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Skin.
[5]"ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family."
Brandt S., Jentsch T.J.
FEBS Lett. 377:15-20(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-805 (ISOFORM 1).
Tissue: Brain.
[6]"The exon-intron architecture of human chloride channel genes is not conserved."
Eggermont J.
Biochim. Biophys. Acta 1397:156-160(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 275-432.
[7]Schutte B.C., Malik M.I., Fingert J., Stone E., Lamb F.S.
Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 744-805 (ISOFORM 1).
Tissue: Mammary gland.
[8]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Integral and associated lysosomal membrane proteins."
Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B., Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.
Traffic 8:1676-1686(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Placenta.
[10]"The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes."
Graves A.R., Curran P.K., Smith C.L., Mindell J.A.
Nature 453:788-792(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[11]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[13]"ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity."
Leisle L., Ludwig C.F., Wagner F.A., Jentsch T.J., Stauber T.
EMBO J. 30:2140-2152(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBUNIT, INTERACTION WITH OSTM1, SUBCELLULAR LOCATION.
[14]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man."
Kornak U., Kasper D., Boesl M.R., Kaiser E., Schweizer M., Schulz A., Friedrich W., Delling G., Jentsch T.J.
Cell 104:205-215(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OPTB4 GLN-762.
[16]"Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene."
Cleiren E., Benichou O., Van Hul E., Gram J., Bollerslav J., Singer F.R., Beaverson K., Aledo A., Whyte M.P., Yoneyama T., de Vernejoul M.-C., Van Hul W.
Hum. Mol. Genet. 10:2861-2867(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OPTB4 PRO-766, VARIANT OPTA2 TRP-767.
[17]"Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis."
Frattini A., Pangrazio A., Susani L., Sobacchi C., Mirolo M., Abinun M., Andolina M., Flanagan A., Horwitz E.M., Mihci E., Notarangelo L.D., Ramenghi U., Teti A., Van Hove J., Vujic D., Young T., Albertini A., Orchard P.J., Vezzoni P., Villa A.
J. Bone Miner. Res. 18:1740-1747(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OPTB4 ARG-240; ARG-249; VAL-332; TRP-526; PRO-614; PHE-744; GLN-767 AND TRP-767, VARIANTS OPTA2 ARG-215; GLN-286; PHE-490 AND VAL-677, VARIANT MET-418.
[18]"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., Tong S.-F., Wong K., Luo Y.F., Tang H.-Y., Ha S.-Y., Chan M.H.-M.
J. Hum. Genet. 52:98-101(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OPTB4 PHE-261.
[19]"Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations."
Pangrazio A., Pusch M., Caldana E., Frattini A., Lanino E., Tamhankar P.M., Phadke S., Lopez A.G., Orchard P., Mihci E., Abinun M., Wright M., Vettenranta K., Bariae I., Melis D., Tezcan I., Baumann C., Locatelli F. expand/collapse author list , Zecca M., Horwitz E., Mansour L.S., Van Roij M., Vezzoni P., Villa A., Sobacchi C.
Hum. Mutat. 31:E1071-E1080(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS OPTB4 PRO-132; SER-214; LEU-227 DEL; ARG-240; GLN-403; ARG-521; GLN-526; TRP-526; PRO-549; PRO-651; TRP-762 AND PRO-767, VARIANTS OPTA2 ARG-215; GLN-286; LEU-318; LEU-758; GLN-762 AND TRP-767.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF224741 mRNA. Translation: AAF34711.1.
AK056551 mRNA. Translation: BAG51745.1.
AK291404 mRNA. Translation: BAF84093.1.
AK292136 mRNA. Translation: BAF84825.1.
AL031600 Genomic DNA. No translation available.
AL031705 Genomic DNA. No translation available.
BC012737 mRNA. Translation: AAH12737.1.
Z67743 mRNA. Translation: CAA91556.1.
AJ001910 Genomic DNA. Translation: CAA05083.1.
U88844 mRNA. Translation: AAB48530.1.
CCDSCCDS32361.1. [P51798-1]
CCDS45378.1. [P51798-2]
PIRS68427.
RefSeqNP_001107803.1. NM_001114331.2. [P51798-2]
NP_001278.1. NM_001287.5. [P51798-1]
UniGeneHs.459649.

3D structure databases

ProteinModelPortalP51798.
SMRP51798. Positions 129-687, 745-789.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107600. 1 interaction.
IntActP51798. 3 interactions.
MINTMINT-3019199.
STRING9606.ENSP00000404772.

Chemistry

GuidetoPHARMACOLOGY706.

Protein family/group databases

TCDB2.A.49.3.3. the chloride carrier/channel (clc) family.

PTM databases

PhosphoSiteP51798.

Polymorphism databases

DMDM12644301.

Proteomic databases

MaxQBP51798.
PaxDbP51798.
PRIDEP51798.

Protocols and materials databases

DNASU1186.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000382745; ENSP00000372193; ENSG00000103249. [P51798-1]
ENST00000448525; ENSP00000410907; ENSG00000103249. [P51798-2]
GeneID1186.
KEGGhsa:1186.
UCSCuc002clv.3. human. [P51798-1]

Organism-specific databases

CTD1186.
GeneCardsGC16M001494.
GeneReviewsCLCN7.
HGNCHGNC:2025. CLCN7.
HPAHPA043019.
HPA043586.
MIM166600. phenotype.
602727. gene.
611490. phenotype.
neXtProtNX_P51798.
Orphanet53. Albers-Schonberg osteopetrosis.
667. Autosomal recessive malignant osteopetrosis.
210110. Intermediate osteopetrosis.
PharmGKBPA26552.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0038.
HOGENOMHOG000231081.
HOVERGENHBG050985.
KOK05016.
OrthoDBEOG77Q4W6.
PhylomeDBP51798.
TreeFamTF313867.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP51798.
BgeeP51798.
CleanExHS_CLCN7.
GenevestigatorP51798.

Family and domain databases

Gene3D1.10.3080.10. 2 hits.
InterProIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002249. Cl_channel-7.
[Graphical view]
PfamPF00571. CBS. 2 hits.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSPR00762. CLCHANNEL.
PR01118. CLCHANNEL7.
SMARTSM00116. CBS. 2 hits.
[Graphical view]
SUPFAMSSF81340. SSF81340. 2 hits.
PROSITEPS51371. CBS. 2 hits.
[Graphical view]
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ChiTaRSCLCN7. human.
GeneWikiCLCN7.
GenomeRNAi1186.
NextBio35464476.
PROP51798.
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Entry information

Entry nameCLCN7_HUMAN
AccessionPrimary (citable) accession number: P51798
Secondary accession number(s): A6NEJ7 expand/collapse secondary AC list , A8K5T9, A8K7X1, B3KPN3, E9PDB9, Q9NYX5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 11, 2001
Last modified: July 9, 2014
This is version 153 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM