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Q64347

- CLCN1_MOUSE

UniProt

Q64347 - CLCN1_MOUSE

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Protein

Chloride channel protein 1

Gene

Clcn1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei189 – 1891ChlorideBy similarity
Binding sitei578 – 5781ChlorideBy similarity

GO - Molecular functioni

  1. adenyl nucleotide binding Source: InterPro
  2. voltage-gated chloride channel activity Source: InterPro

GO - Biological processi

  1. chloride transport Source: MGI
  2. neuronal action potential propagation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiREACT_196640. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Chloride channel protein 1
Short name:
ClC-1
Alternative name(s):
Chloride channel protein, skeletal muscle
Gene namesi
Name:Clcn1
Synonyms:Clc1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 6

Organism-specific databases

MGIiMGI:88417. Clcn1.

Subcellular locationi

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. sarcolemma Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi553 – 5531I → T: Causes myotonia. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 994994Chloride channel protein 1PRO_0000094430Add
BLAST

Proteomic databases

PaxDbiQ64347.
PRIDEiQ64347.

PTM databases

PhosphoSiteiQ64347.

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscles.

Gene expression databases

BgeeiQ64347.
CleanExiMM_CLCN1.
ExpressionAtlasiQ64347. baseline and differential.
GenevestigatoriQ64347.

Interactioni

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000031894.

Structurei

3D structure databases

ProteinModelPortaliQ64347.
SMRiQ64347. Positions 120-670, 803-878.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 114114CytoplasmicBy similarityAdd
BLAST
Topological domaini574 – 994421CytoplasmicBy similarityAdd
BLAST

Intramembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Intramembranei191 – 1988HelicalBy similarity
Intramembranei266 – 27813HelicalBy similarityAdd
BLAST
Intramembranei282 – 2909HelicalBy similarity
Intramembranei522 – 53615HelicalBy similarityAdd
BLAST
Intramembranei537 – 5382Note=Loop between two helicesBy similarity
Intramembranei539 – 55012HelicalBy similarityAdd
BLAST
Intramembranei551 – 5555Note=Loop between two helicesBy similarity

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei115 – 15238HelicalBy similarityAdd
BLAST
Transmembranei159 – 18224HelicalBy similarityAdd
BLAST
Transmembranei207 – 22519HelicalBy similarityAdd
BLAST
Transmembranei232 – 25019HelicalBy similarityAdd
BLAST
Transmembranei302 – 32120HelicalBy similarityAdd
BLAST
Transmembranei348 – 37629HelicalBy similarityAdd
BLAST
Transmembranei385 – 40420HelicalBy similarityAdd
BLAST
Transmembranei454 – 47421HelicalBy similarityAdd
BLAST
Transmembranei482 – 50524HelicalBy similarityAdd
BLAST
Transmembranei556 – 57318HelicalBy similarityAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini609 – 66860CBS 1PROSITE-ProRule annotationAdd
BLAST
Domaini827 – 88256CBS 2PROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi188 – 1925Selectivity filter part_1By similarity
Motifi230 – 2345Selectivity filter part_2By similarity
Motifi482 – 4865Selectivity filter part_3By similarity

Sequence similaritiesi

Contains 2 CBS domains.PROSITE-ProRule annotation

Keywords - Domaini

CBS domain, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0038.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231297.
HOVERGENiHBG005332.
InParanoidiQ64347.
KOiK05010.
OMAiFTFPPGM.
OrthoDBiEOG77WWCD.
PhylomeDBiQ64347.
TreeFamiTF352264.

Family and domain databases

Gene3Di1.10.3080.10. 1 hit.
InterProiIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002243. Cl_channel-1.
[Graphical view]
PfamiPF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSiPR00762. CLCHANNEL.
PR01112. CLCHANNEL1.
SUPFAMiSSF81340. SSF81340. 1 hit.
PROSITEiPS51371. CBS. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q64347 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MERSQSQRHG GEQSWWGSAP QYQYMPFEHC TSYGLPSENG GLQHRPRKDM
60 70 80 90 100
GPRHNAHPTQ IYGHQKEQYS YKAQDGGMPK KMGSSSTMDS LDEDHYSKCQ
110 120 130 140 150
DCVHRLGRVL RRKLGEDWIF LVLLGLLMAL VSWCMDYVSA KSLQAYKWTY
160 170 180 190 200
AQMKPSLPLQ YLAWVTFPLI LILFSALFCQ LISPQAVGSG IPEMKTILRG
210 220 230 240 250
VVLKEYLTLK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM
260 270 280 290 300
SMFSGVYEQP YYYTDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR
310 320 330 340 350
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA
360 370 380 390 400
FAVIGICCGF LGAVFVYLHR QVMLGVRKHK CLSQFLAKHR LLYPGIVTFV
410 420 430 440 450
IASLTFPPGM GQFMAGELMP REAISTLFDN NTWVKHIGDP QSLGQSAVWL
460 470 480 490 500
HPQVNVIIII LLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE
510 520 530 540 550
IMAMLFPEGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT
560 570 580 590 600
GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK
610 620 630 640 650
FTIFVEDIMV RDVKFVSASC TYGELRNLLQ ATTVKTLPLV DSKDSMILLG
660 670 680 690 700
SVERSELQSL LQRHLCAERR LKAAQDMARK LSELPYNGKA QLAGDWHPGG
710 720 730 740 750
RPESFAFVDE DEDEDLSRKM ELPLTPAPPP PSPPPPPSQF PIAPSNPEEP
760 770 780 790 800
NGPLPSHKQP PEASDSADQR SSTFQRLLHC LLGKAHSKKK KITQDSTDLV
810 820 830 840 850
DNMSPEEIEA WEREQLSQPV CFDCCCIDQS PFQLVEQTTL HKTHTLFSLL
860 870 880 890 900
GLHLAYVTSM GKLRGVLALE ELQKAIEGHT KSGVQLRPPL ASFRNTTSIR
910 920 930 940 950
KTPGGPPPPA EGWNVPEDGD GAPGREVMVP TMPETPVPPP SPEAPSCLAP
960 970 980 990
ARAEGELEEL EMVGSLEPEE ELADILHGPS LRSTDEEDED ELIL
Length:994
Mass (Da):109,794
Last modified:May 18, 2010 - v3
Checksum:i3C523C4325B279BF
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti65 – 651Q → H in CAB08359. (PubMed:9321463)Curated
Sequence conflicti72 – 721K → Q in CAB08359. (PubMed:9321463)Curated
Sequence conflicti76 – 783GGM → RGI in CAB08359. (PubMed:9321463)Curated
Sequence conflicti82 – 832MG → TD in CAB08359. (PubMed:9321463)Curated
Sequence conflicti88 – 881M → V in CAB08359. (PubMed:9321463)Curated
Sequence conflicti243 – 2431A → T in CAB08359. (PubMed:9321463)Curated
Sequence conflicti483 – 4842GF → VN in CAB08359. (PubMed:9321463)Curated
Sequence conflicti585 – 5851K → E in CAB08359. (PubMed:9321463)Curated
Sequence conflicti620 – 6201C → S in CAB08359. (PubMed:9321463)Curated
Sequence conflicti631 – 6311A → T in CAB08359. (PubMed:9321463)Curated
Sequence conflicti746 – 7461N → H no nucleotide entry (PubMed:8119941)Curated
Sequence conflicti864 – 8641R → T in CAB08359. (PubMed:9321463)Curated
Sequence conflicti877 – 8771E → K in CAB08359. (PubMed:9321463)Curated
Sequence conflicti912 – 9121G → S in CAB08359. (PubMed:9321463)Curated
Sequence conflicti918 – 9192DG → GE in CAB08359. (PubMed:9321463)Curated
Sequence conflicti924 – 9241G → E in CAB08359. (PubMed:9321463)Curated
Sequence conflicti944 – 9441A → V no nucleotide entry (PubMed:8119941)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z95127
, 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.
CCDSiCCDS39471.1.
PIRiI48773.
RefSeqiNP_038519.1. NM_013491.2.
UniGeneiMm.386757.

Genome annotation databases

EnsembliENSMUST00000031894; ENSMUSP00000031894; ENSMUSG00000029862.
GeneIDi12723.
KEGGimmu:12723.
UCSCiuc009bqs.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z95127
, 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 .
CCDSi CCDS39471.1.
PIRi I48773.
RefSeqi NP_038519.1. NM_013491.2.
UniGenei Mm.386757.

3D structure databases

ProteinModelPortali Q64347.
SMRi Q64347. Positions 120-670, 803-878.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 10090.ENSMUSP00000031894.

PTM databases

PhosphoSitei Q64347.

Proteomic databases

PaxDbi Q64347.
PRIDEi Q64347.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000031894 ; ENSMUSP00000031894 ; ENSMUSG00000029862 .
GeneIDi 12723.
KEGGi mmu:12723.
UCSCi uc009bqs.1. mouse.

Organism-specific databases

CTDi 1180.
MGIi MGI:88417. Clcn1.

Phylogenomic databases

eggNOGi COG0038.
GeneTreei ENSGT00760000119109.
HOGENOMi HOG000231297.
HOVERGENi HBG005332.
InParanoidi Q64347.
KOi K05010.
OMAi FTFPPGM.
OrthoDBi EOG77WWCD.
PhylomeDBi Q64347.
TreeFami TF352264.

Enzyme and pathway databases

Reactomei REACT_196640. Stimuli-sensing channels.

Miscellaneous databases

NextBioi 282008.
PROi Q64347.
SOURCEi Search...

Gene expression databases

Bgeei Q64347.
CleanExi MM_CLCN1.
ExpressionAtlasi Q64347. baseline and differential.
Genevestigatori Q64347.

Family and domain databases

Gene3Di 1.10.3080.10. 1 hit.
InterProi IPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002243. Cl_channel-1.
[Graphical view ]
Pfami PF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view ]
PRINTSi PR00762. CLCHANNEL.
PR01112. CLCHANNEL1.
SUPFAMi SSF81340. SSF81340. 1 hit.
PROSITEi PS51371. CBS. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiCLCN1_MOUSE
AccessioniPrimary (citable) accession number: Q64347
Secondary accession number(s): Q8BZ41, Q9QVY5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 123 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

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).By similarity

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3