Q64347 (CLCN1_MOUSE) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 110.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Chloride channel protein 1 Short name=ClC-1 Alternative name(s): Chloride channel protein, skeletal muscle | ||||
| Gene names |
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| Organism | Mus musculus (Mouse) [Reference proteome] | ||||
| Taxonomic identifier | 10090 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus![]() |
Protein attributes
| Sequence length | 994 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. |
| Subcellular location | |
| Tissue specificity | Predominantly expressed in skeletal muscles. |
| Miscellaneous | The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels By similarity. |
| Sequence similarities | Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily. [View classification] Contains 2 CBS domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Ion transport Transport |
| Cellular component | Membrane |
| Domain | CBS domain Repeat Transmembrane Transmembrane helix |
| Ligand | Chloride |
| Molecular function | Chloride channel Ion channel Voltage-gated channel |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | chloride transport Inferred from mutant phenotype PubMed 2453798. Source: MGI neuronal action potential propagationInferred from mutant phenotype PubMed 2453798. Source: MGI |
| Cellular_component | chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW sarcolemmaInferred from direct assay PubMed 7721815. Source: MGI |
| Molecular_function | voltage-gated chloride channel activity Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 994 | 994 | Chloride channel protein 1 | PRO_0000094430 | |||||
Regions | |||||||||
| Topological domain | 1 – 114 | 114 | Cytoplasmic By similarity | ||||||
| Transmembrane | 115 – 152 | 38 | Helical; By similarity | ||||||
| Transmembrane | 159 – 182 | 24 | Helical; By similarity | ||||||
| Intramembrane | 191 – 198 | 8 | Helical; By similarity | ||||||
| Transmembrane | 207 – 225 | 19 | Helical; By similarity | ||||||
| Transmembrane | 232 – 250 | 19 | Helical; By similarity | ||||||
| Intramembrane | 266 – 278 | 13 | Helical; By similarity | ||||||
| Intramembrane | 282 – 290 | 9 | Helical; By similarity | ||||||
| Transmembrane | 302 – 321 | 20 | Helical; By similarity | ||||||
| Transmembrane | 348 – 376 | 29 | Helical; By similarity | ||||||
| Transmembrane | 385 – 404 | 20 | Helical; By similarity | ||||||
| Transmembrane | 454 – 474 | 21 | Helical; By similarity | ||||||
| Transmembrane | 482 – 505 | 24 | Helical; By similarity | ||||||
| Intramembrane | 522 – 536 | 15 | Helical; By similarity | ||||||
| Intramembrane | 537 – 538 | 2 | Note=Loop between two helices; By similarity | ||||||
| Intramembrane | 539 – 550 | 12 | Helical; By similarity | ||||||
| Intramembrane | 551 – 555 | 5 | Note=Loop between two helices; By similarity | ||||||
| Transmembrane | 556 – 573 | 18 | Helical; By similarity | ||||||
| Topological domain | 574 – 994 | 421 | Cytoplasmic By similarity | ||||||
| Domain | 609 – 668 | 60 | CBS 1 | ||||||
| Domain | 827 – 882 | 56 | CBS 2 | ||||||
| Motif | 188 – 192 | 5 | Selectivity filter part_1 By similarity | ||||||
| Motif | 230 – 234 | 5 | Selectivity filter part_2 By similarity | ||||||
| Motif | 482 – 486 | 5 | Selectivity filter part_3 By similarity | ||||||
Sites | |||||||||
| Binding site | 189 | 1 | Chloride By similarity | ||||||
| Binding site | 578 | 1 | Chloride By similarity | ||||||
Experimental info | |||||||||
| Mutagenesis | 553 | 1 | I → T: Causes myotonia. Ref.6 | ||||||
| Sequence conflict | 65 | 1 | Q → H in CAB08359. Ref.1 | ||||||
| Sequence conflict | 72 | 1 | K → Q in CAB08359. Ref.1 | ||||||
| Sequence conflict | 76 – 78 | 3 | GGM → RGI in CAB08359. Ref.1 | ||||||
| Sequence conflict | 82 – 83 | 2 | MG → TD in CAB08359. Ref.1 | ||||||
| Sequence conflict | 88 | 1 | M → V in CAB08359. Ref.1 | ||||||
| Sequence conflict | 243 | 1 | A → T in CAB08359. Ref.1 | ||||||
| Sequence conflict | 483 – 484 | 2 | GF → VN in CAB08359. Ref.1 | ||||||
| Sequence conflict | 585 | 1 | K → E in CAB08359. Ref.1 | ||||||
| Sequence conflict | 620 | 1 | C → S in CAB08359. Ref.1 | ||||||
| Sequence conflict | 631 | 1 | A → T in CAB08359. Ref.1 | ||||||
| Sequence conflict | 746 | 1 | N → H no nucleotide entry Ref.6 | ||||||
| Sequence conflict | 864 | 1 | R → T in CAB08359. Ref.1 | ||||||
| Sequence conflict | 877 | 1 | E → K in CAB08359. Ref.1 | ||||||
| Sequence conflict | 912 | 1 | G → S in CAB08359. Ref.1 | ||||||
| Sequence conflict | 918 – 919 | 2 | DG → GE in CAB08359. Ref.1 | ||||||
| Sequence conflict | 924 | 1 | G → E in CAB08359. Ref.1 | ||||||
| Sequence conflict | 944 | 1 | A → V no nucleotide entry Ref.6 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles." Schnuelle V., Antropova O., Gronemeier M., Wedemeyer N., Jockusch H., Bartsch J.W. Mamm. Genome 8:718-725(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. Strain: C57BL/6. |
| [2] | "The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. Hayashizaki Y.Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Strain: C57BL/6J. Tissue: Bone. |
| [3] | Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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]. |
| [5] | "Inactivation of muscle chloride channel by transposon insertion in myotonic mice." Steinmeyer K., Klocke R., Ortland C., Gronemeier M., Jockusch H., Gruender S., Jentsch T.J. Nature 354:304-308(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 350-467. |
| [6] | "Nonsense and missense mutations in the muscular chloride channel gene Clc-1 of myotonic mice." Gronemeier M., Condie A., Prosser J., Steinmeyer K., Jentsch T.J., Jockusch H. J. Biol. Chem. 269:5963-5967(1994) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 543-563; 740-760 AND 941-961, MUTAGENESIS OF ILE-553. Strain: C57BL/6 X CBA/CaJ and SWR/J. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | Z95127 Z95149 Genomic DNA. Translation: CAB08359.1.AK036735 mRNA. Translation: BAC29557.1. CH466533 Genomic DNA. Translation: EDL13488.1. BC114336 mRNA. Translation: AAI14337.1. X62895 mRNA. Translation: CAA44684.1. X62896 mRNA. Translation: CAA44685.1. X62897 mRNA. Translation: CAA44686.1. |
| IPI | IPI00133420. |
| PIR | I48773. |
| RefSeq | NP_038519.1. NM_013491.2. |
| UniGene | Mm.386757. |
3D structure databases | |
| ProteinModelPortal | Q64347. |
| SMR | Q64347. Positions 120-670, 803-878. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 10090.ENSMUSP00000031894. |
PTM databases | |
| PhosphoSite | Q64347. |
Proteomic databases | |
| PaxDb | Q64347. |
| PRIDE | Q64347. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENSMUST00000031894; ENSMUSP00000031894; ENSMUSG00000029862. |
| GeneID | 12723. |
| KEGG | mmu:12723. |
| UCSC | uc009bqs.1. mouse. |
Organism-specific databases | |
| CTD | 1180. |
| MGI | MGI:88417. Clcn1. |
Phylogenomic databases | |
| eggNOG | COG0038. |
| GeneTree | ENSGT00620000087869. |
| HOGENOM | HOG000231297. |
| HOVERGEN | HBG005332. |
| InParanoid | Q8BZ41. |
| KO | K05010. |
| OMA | YTDMLTV. |
| OrthoDB | EOG4VT5WG. |
Gene expression databases | |
| ArrayExpress | Q64347. |
| Bgee | Q64347. |
| CleanEx | MM_CLCN1. |
| Genevestigator | Q64347. |
| GermOnline | ENSMUSG00000029862. Mus musculus. |
Family and domain databases | |
| Gene3D | 1.10.3080.10. 1 hit. |
| InterPro | IPR014743. Cl-channel_core. IPR001807. Cl-channel_volt-gated. IPR002243. Cl_channel-1. IPR000644. Cysta_beta_synth_core. [Graphical view] |
| Pfam | PF00571. CBS. 1 hit. PF00654. Voltage_CLC. 1 hit. [Graphical view] |
| PRINTS | PR00762. CLCHANNEL. PR01112. CLCHANNEL1. |
| SUPFAM | SSF81340. Cl-channel_core. 1 hit. |
| PROSITE | PS51371. CBS. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 282008. |
| SOURCE | Search... |
Entry information
| Entry name | CLCN1_MOUSE | ||||||||
| Accession | Primary (citable) accession number: Q64347 Secondary accession number(s): Q8BZ41, Q9QVY5 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
Relevant documents
| MGD cross-references Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
