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Q64347 (CLCN1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chloride channel protein 1

Short name=ClC-1
Alternative name(s):
Chloride channel protein, skeletal muscle
Gene names
Name:Clcn1
Synonyms:Clc1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length994 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Membrane; Multi-pass membrane protein.

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 994994Chloride channel protein 1
PRO_0000094430

Regions

Topological domain1 – 114114Cytoplasmic By similarity
Transmembrane115 – 15238Helical; By similarity
Transmembrane159 – 18224Helical; By similarity
Intramembrane191 – 1988Helical; By similarity
Transmembrane207 – 22519Helical; By similarity
Transmembrane232 – 25019Helical; By similarity
Intramembrane266 – 27813Helical; By similarity
Intramembrane282 – 2909Helical; By similarity
Transmembrane302 – 32120Helical; By similarity
Transmembrane348 – 37629Helical; By similarity
Transmembrane385 – 40420Helical; By similarity
Transmembrane454 – 47421Helical; By similarity
Transmembrane482 – 50524Helical; By similarity
Intramembrane522 – 53615Helical; By similarity
Intramembrane537 – 5382Note=Loop between two helices; By similarity
Intramembrane539 – 55012Helical; By similarity
Intramembrane551 – 5555Note=Loop between two helices; By similarity
Transmembrane556 – 57318Helical; By similarity
Topological domain574 – 994421Cytoplasmic By similarity
Domain609 – 66860CBS 1
Domain827 – 88256CBS 2
Motif188 – 1925Selectivity filter part_1 By similarity
Motif230 – 2345Selectivity filter part_2 By similarity
Motif482 – 4865Selectivity filter part_3 By similarity

Sites

Binding site1891Chloride By similarity
Binding site5781Chloride By similarity

Experimental info

Mutagenesis5531I → T: Causes myotonia. Ref.6
Sequence conflict651Q → H in CAB08359. Ref.1
Sequence conflict721K → Q in CAB08359. Ref.1
Sequence conflict76 – 783GGM → RGI in CAB08359. Ref.1
Sequence conflict82 – 832MG → TD in CAB08359. Ref.1
Sequence conflict881M → V in CAB08359. Ref.1
Sequence conflict2431A → T in CAB08359. Ref.1
Sequence conflict483 – 4842GF → VN in CAB08359. Ref.1
Sequence conflict5851K → E in CAB08359. Ref.1
Sequence conflict6201C → S in CAB08359. Ref.1
Sequence conflict6311A → T in CAB08359. Ref.1
Sequence conflict7461N → H no nucleotide entry Ref.6
Sequence conflict8641R → T in CAB08359. Ref.1
Sequence conflict8771E → K in CAB08359. Ref.1
Sequence conflict9121G → S in CAB08359. Ref.1
Sequence conflict918 – 9192DG → GE in CAB08359. Ref.1
Sequence conflict9241G → E in CAB08359. Ref.1
Sequence conflict9441A → V no nucleotide entry Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q64347 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 3C523C4325B279BF

FASTA994109,794
        10         20         30         40         50         60 
MERSQSQRHG GEQSWWGSAP QYQYMPFEHC TSYGLPSENG GLQHRPRKDM GPRHNAHPTQ 

        70         80         90        100        110        120 
IYGHQKEQYS YKAQDGGMPK KMGSSSTMDS LDEDHYSKCQ DCVHRLGRVL RRKLGEDWIF 

       130        140        150        160        170        180 
LVLLGLLMAL VSWCMDYVSA KSLQAYKWTY AQMKPSLPLQ YLAWVTFPLI LILFSALFCQ 

       190        200        210        220        230        240 
LISPQAVGSG IPEMKTILRG VVLKEYLTLK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS 

       250        260        270        280        290        300 
ICAAVLSKFM SMFSGVYEQP YYYTDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 

       310        320        330        340        350        360 
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAVIGICCGF 

       370        380        390        400        410        420 
LGAVFVYLHR QVMLGVRKHK CLSQFLAKHR LLYPGIVTFV IASLTFPPGM GQFMAGELMP 

       430        440        450        460        470        480 
REAISTLFDN NTWVKHIGDP QSLGQSAVWL HPQVNVIIII LLFFVMKFWM SIVATTMPIP 

       490        500        510        520        530        540 
CGGFMPVFVL GAAFGRLVGE IMAMLFPEGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV 

       550        560        570        580        590        600 
STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 

       610        620        630        640        650        660 
FTIFVEDIMV RDVKFVSASC TYGELRNLLQ ATTVKTLPLV DSKDSMILLG SVERSELQSL 

       670        680        690        700        710        720 
LQRHLCAERR LKAAQDMARK LSELPYNGKA QLAGDWHPGG RPESFAFVDE DEDEDLSRKM 

       730        740        750        760        770        780 
ELPLTPAPPP PSPPPPPSQF PIAPSNPEEP NGPLPSHKQP PEASDSADQR SSTFQRLLHC 

       790        800        810        820        830        840 
LLGKAHSKKK KITQDSTDLV DNMSPEEIEA WEREQLSQPV CFDCCCIDQS PFQLVEQTTL 

       850        860        870        880        890        900 
HKTHTLFSLL GLHLAYVTSM GKLRGVLALE ELQKAIEGHT KSGVQLRPPL ASFRNTTSIR 

       910        920        930        940        950        960 
KTPGGPPPPA EGWNVPEDGD GAPGREVMVP TMPETPVPPP SPEAPSCLAP ARAEGELEEL 

       970        980        990 
EMVGSLEPEE ELADILHGPS LRSTDEEDED ELIL 

« Hide

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. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai 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 expand/collapse EMBL AC list , Z95128, Z95129, Z95130, Z95131, Z95132, Z95133, Z95134, Z95135, Z95136, Z95137, Z95138, Z95139, Z95140, Z95141, Z95142, Z95143, Z95144, Z95145, Z95146, Z95147, Z95148, 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.
CCDSCCDS39471.1.
PIRI48773.
RefSeqNP_038519.1. NM_013491.2.
UniGeneMm.386757.

3D structure databases

ProteinModelPortalQ64347.
SMRQ64347. Positions 120-670, 803-878.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING10090.ENSMUSP00000031894.

PTM databases

PhosphoSiteQ64347.

Proteomic databases

PaxDbQ64347.
PRIDEQ64347.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000031894; ENSMUSP00000031894; ENSMUSG00000029862.
GeneID12723.
KEGGmmu:12723.
UCSCuc009bqs.1. mouse.

Organism-specific databases

CTD1180.
MGIMGI:88417. Clcn1.

Phylogenomic databases

eggNOGCOG0038.
GeneTreeENSGT00620000087869.
HOGENOMHOG000231297.
HOVERGENHBG005332.
InParanoidQ8BZ41.
KOK05010.
OMAFTFPPGM.
OrthoDBEOG77WWCD.
PhylomeDBQ64347.
TreeFamTF352264.

Gene expression databases

ArrayExpressQ64347.
BgeeQ64347.
CleanExMM_CLCN1.
GenevestigatorQ64347.

Family and domain databases

Gene3D1.10.3080.10. 1 hit.
InterProIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002243. Cl_channel-1.
[Graphical view]
PfamPF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSPR00762. CLCHANNEL.
PR01112. CLCHANNEL1.
SUPFAMSSF81340. SSF81340. 1 hit.
PROSITEPS51371. CBS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

NextBio282008.
PROQ64347.
SOURCESearch...

Entry information

Entry nameCLCN1_MOUSE
AccessionPrimary (citable) accession number: Q64347
Secondary accession number(s): Q8BZ41, Q9QVY5
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot