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0CLCN7_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameCLCN7
DescriptionChloride channel protein 7 (clc-7).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005254 chloride channel activity (TAS)
0006810 transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Chloride channels (CLCs) constitute an evolutionarily well-conserved family of voltage-gated channels that are structurally unrelated to the other known voltage-gated channels. They are found in organisms ranging from bacteria to yeasts and plants.nd also to animals. Their functions in higher animals likely include the regulation of cell volume.ontrol of electrical excitability and trans-epithelial transport .The first member of the family (CLC-0) was expression-cloned from the electric organ of Torpedo marmorata .nd subsequently nine CLC-like proteins have been cloned from mammals. They are thought to function as multimers of two or more identical or homologous subunits.nd they have varying tissue distributions and functional properties. To date.LC-0.LC-1.LC-2.LC-4 and CLC-5 have been demonstrated to form functional Cl- channels; whether the remaining isoforms do so is either contested or unproven. One possible explanation for the difficulty in expressing activatable Cl- channels is that some of the isoforms may function as Cl- channels of intracellular compartments.ather than of the plasma membrane. However.hey are all thought to have a similar transmembrane (TM) topology.nitial hydropathy analysis suggesting 13 hydrophobic stretches long enough to form putative TM domains . Recently.he postulated TM topology has been revised.nd it now seems likely that the CLCs have 10 (or possibly 12) TM domains.ith both N- and C-termini residing in the cytoplasm .A number of human disease-causing mutations have been identified in the genes encoding CLCs. Mutations in CLCN1.he gene encoding CLC-1.he major skeletal muscle Cl- channel.ead to both recessively and dominantly-inherited forms of muscle stiffness or myotonia . Similarly.utations in CLCN5.hich encodes CLC-5. renal Cl- channel.ead to several forms of inherited kidney stone disease . These mutations have been demonstrated to reduce or abolish CLC function.
  IPR001807:Cl- channel, voltage gated
CBS (cystathionine-beta-synthase) domains are small intracellular modules.ostly found in two or four copies within a protein.hat occur in several different proteins in all kingdoms of life. Tandem pairs of CBS domains can act as binding domains for adenosine derivatives and may regulate the activity of attached enzymatic or other domains . In some cases.BS domains may act as sensors of cellular energy status by being activated by AMP and inhibited by ATP . In chloride ion channels.he CBS domains have been implicated in intracellular targeting and trafficking.s well as in protein-protein interactions.ut results vary with different channels: in the CLC-5 channel.he CBS domain was shown to be required for trafficking .hile in the CLC-1 channel.he CBS domain was shown to be critical for channel function.ut not necessary for trafficking . Mutations in conserved residues within CBS domains cause a variety of human hereditary diseases.ncluding (with the gene mutated in parentheses): homocystinuria (cystathionine beta-synthase); Wolff-Parkinson-White syndrome (gamma 2 subunit of AMP-activated protein kinase); retinitis pigmentosa (IMP dehydrogenase-1); congenital myotonia.diopathic generalized epilepsy.ypercalciuric nephrolithiasis.nd classic Bartter syndrome (CLC chloride channel family members).
  IPR000644:CBS
Chloride channels (CLCs) constitute an evolutionarily well-conserved family of voltage-gated channels that are structurally unrelated to the other known voltage-gated channels. They are found in organisms ranging from bacteria to yeasts and plants.nd also to animals. Their functions in higher animals likely include the regulation of cell volume.ontrol of electrical excitability and trans-epithelial transport .The first member of the family (CLC-0) was expression-cloned from the electric organ of Torpedo marmorata .nd subsequently nine CLC-like proteins have been cloned from mammals. They are thought to function as multimers of two or more identical or homologous subunits.nd they have varying tissue distributions and functional properties. To date.LC-0.LC-1.LC-2.LC-4 and CLC-5 have been demonstrated to form functional Cl- channels; whether the remaining isoforms do so is either contested or unproven. One possible explanation for the difficulty in expressing activatable Cl- channels is that some of the isoforms may function as Cl- channels of intracellular compartments.ather than of the plasma membrane. However.hey are all thought to have a similar transmembrane (TM) topology.nitial hydropathy analysis suggesting 13 hydrophobic stretches long enough to form putative TM domains . Recently.he postulated TM topology has been revised.nd it now seems likely that the CLCs have 10 (or possibly 12) TM domains.ith both N- and C-termini residing in the cytoplasm .A number of human disease-causing mutations have been identified in the genes encoding CLCs. Mutations in CLCN1.he gene encoding CLC-1.he major skeletal muscle Cl- channel.ead to both recessively and dominantly-inherited forms of muscle stiffness or myotonia . Similarly.utations in CLCN5.hich encodes CLC-5. renal Cl- channel.ead to several forms of inherited kidney stone disease . These mutations have been demonstrated to reduce or abolish CLC function.CLC-7 is a CLC that.ogether with CLC-6.orms a distinct branch of theCLC gene family. CLC-7 consists of 789 amino acid residues (human isoform)and is ~45% identical to CLC-6 (at the amino acid level). CLC-7 is broadlyexpressed.ut.o date.unctional studies have not generated measurableCl- currents; its identification as a functional Cl- channel thereforeremains putative. Interestingly.LC-7 is the only known eukaryotic CLCprotein to lack a highly conserved glycosylation site between hydrophobicdomains D8 and D9 .
  IPR002249:Chloride channel CLC-7
Proteins assembled with various cofactors or by means of cytosolic molecular chaperones are poor candidates for translocation across the bacterial inner membrane by the standard general secretory (Sec) pathway. This entry describes a family of predicted long.on-Sec signal sequences and signal-anchor sequences (uncleaved signal sequences). All contain an absolutely conserved pair of arginine residues.n a motif approximated by (S/T)-R-R-X-F-L-K.ollowed by a membrane-spanning hydrophobic region. Members with small amino acid side chains at the -1 and -3 positions from the C terminus of the model should be predicted to be cleaved as are Sec pathway signal sequences. Members are almost exclusively bacterial.lthough the domain is also found in eukaryotic and archaeal sequences. A large fraction of the members of this family may have bound redox-active cofactors .
  IPR006311:Twin-arginine translocation pathway signal
IPR001807:Voltage_CLC 
Evalue:-193.420211791992 
Location:182-598IPR000644:CBS 
Evalue:-22 
Location:629-792IPR001807:CLCHANNEL 
Evalue:0 
Location:601-615IPR002249:CLCHANNEL7 
Evalue:0 
Location:140-150IPR002249:CLCHANNEL7 
Evalue:0 
Location:151-159IPR002249:CLCHANNEL7 
Evalue:0 
Location:59-67IPR002249:CLCHANNEL7 
Evalue:0 
Location:88-94
SequencesProtein: CLCN7_HUMAN (805 aa)
mRNA: NM_001287
Local Annotation
Synapse Ontology
introduce the substructure of the synapse and the location where the molecule can be seen. It will contain all the constructive special organelle and molecule we known.
sdb:0001 Structure/Biochemistry of synapse  (Evidence:keywords)
KO assignmentK05016
  Level 3 annotation:
    chloride channel 7
  Level 2 annotation:
    Ion channels
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 459 residues, 1435345-1436719Exon2: 29 residues, 1437007-1437088Exon3: 61 residues, 1437393-1437570Exon4: 22 residues, 1437656-1437716Exon5: 45 residues, 1438356-1438486Exon6: 30 residues, 1438682-1438768Exon7: 44 residues, 1438967-1439095Exon8: 19 residues, 1439277-1439329Exon9: 58 residues, 1440498-1440668Exon10: 33 residues, 1441624-1441718Exon11: 48 residues, 1442756-1442895Exon12: 22 residues, 1443835-1443896Exon13: 20 residues, 1444412-1444467Exon14: 41 residues, 1445135-1445252Exon15: 23 residues, 1445732-1445797Exon16: 33 residues, 1446114-1446208Exon17: 30 residues, 1447255-1447339Exon18: 23 residues, 1447695-1447758Exon19: 29 residues, 1449108-1449189Exon20: 38 residues, 1450419-1450529Exon21: 46 residues, 1450817-1450950Exon22: 24 residues, 1451406-1451472Exon23: 26 residues, 1451604-1451676Exon24: 26 residues, 1455268-1455340Exon25: 61 residues, 1464835-1465013Exon26: 2 residues, -Jump to CLCN7_HUMAN  
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Loci Cluster (Details)Loci: 2909 387192-390754 ~-4K 13162(NME4)(+)Loci: 2910 415668-512481 ~-97K 13166(RAB11FIP3)(+)Loci: 2911 580179-619272 ~-39K 13173(RAB40C)(+)Loci: 4199 774975-778384 ~-3K 13216(-)Loci: 2912 1143241-1211772 ~-69K 13223(CACNA1H)(+)Loci: 2913 1324663-1339443 ~-15K 13234(BAIAP3)(+)Loci: 4200 1435345-1465013 ~-30K 13244(CLCN7)(-)Loci: 2914 1696221-1760318 ~-64K 13253(MAPK8IP3)(+)Loci: 2915 1979968-1984276 ~-4K 13288(SYNGR3)(+)Loci: 2916 2016896-2028484 ~-12K 13290(SLC9A3R2)(+)Loci: 2917 2038599-2078713 ~-40K 13294(TSC2)(+)Loci: 2918 2138651-2144141 ~-5K 13300(RAB26)(+)Loci: 4201 2167184-2186466 ~-19K 13303(CASKIN1)(-)Loci: 4198 357394-360541 ~-3K 13159(MRPL28)(-)Link out to UCSC