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P35523

- CLCN1_HUMAN

UniProt

P35523 - CLCN1_HUMAN

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Protein

Chloride channel protein 1

Gene

CLCN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 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 sitei484 – 4841Chloride; via amide nitrogenBy similarity
Binding sitei578 – 5781ChlorideBy similarity

GO - Molecular functioni

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

GO - Biological processi

  1. chloride transmembrane transport Source: GOC
  2. ion transmembrane transport Source: Reactome
  3. muscle contraction Source: ProtInc
  4. neuronal action potential propagation Source: Ensembl
  5. regulation of anion transport Source: GOC
  6. transmembrane transport Source: Reactome
  7. transport Source: ProtInc
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_160189. Stimuli-sensing channels.

Protein family/group databases

TCDBi2.A.49.2.1. the chloride carrier/channel (clc) family.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2019. CLCN1.

Subcellular locationi

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. integral component of plasma membrane Source: ProtInc
  3. plasma membrane Source: Reactome
  4. sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Myotonia congenita, autosomal dominant (MCD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
VAR_001586
Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
VAR_001590
Natural varianti286 – 2861V → A in MCD. 1 Publication
VAR_001594
Natural varianti290 – 2901I → M in MCD. 1 Publication
VAR_001595
Natural varianti307 – 3071F → S in MCD. 1 Publication
VAR_001598
Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
VAR_001599
Natural varianti317 – 3171R → Q in MCD.
VAR_001600
Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
VAR_001603
Natural varianti480 – 4801P → L in MCD. 1 Publication
VAR_001607
Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
VAR_001611
Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
VAR_001612
Myotonia congenita, autosomal recessive (MCR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051R → C in MCR.
Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
VAR_001582
Natural varianti136 – 1361D → G in MCR. 1 Publication
VAR_001584
Natural varianti150 – 1501Y → C in MCR. 1 Publication
VAR_001585
Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
VAR_001586
Natural varianti165 – 1651V → G in MCR.
VAR_001587
Natural varianti167 – 1671F → L in MCR. 1 Publication
Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
VAR_001588
Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
VAR_001590
Natural varianti236 – 2361V → L in MCR. 1 Publication
VAR_001591
Natural varianti261 – 2611Y → C in MCR. 1 Publication
Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
VAR_001592
Natural varianti285 – 2851G → E in MCR. 1 Publication
VAR_001593
Natural varianti291 – 2911E → K in MCR.
VAR_001596
Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
VAR_001599
Natural varianti327 – 3271V → I in MCR.
VAR_001601
Natural varianti329 – 3291I → T in MCR.
VAR_001602
Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
VAR_001603
Natural varianti413 – 4131F → C in MCR. 1 Publication
VAR_001604
Natural varianti415 – 4151A → V in MCR. 1 Publication
VAR_001605
Natural varianti482 – 4821G → R in MCR.
VAR_001608
Natural varianti485 – 4851M → V in MCR. 1 Publication
Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
VAR_001609
Natural varianti496 – 4961R → S in MCR. 1 Publication
VAR_001610
Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
VAR_001611
Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
VAR_001612
Natural varianti563 – 5631V → I in MCR. 1 Publication
VAR_001613
Natural varianti708 – 7081F → L in MCR. 1 Publication
VAR_001614

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi160800. phenotype.
255700. phenotype.
Orphaneti614. Thomsen and Becker disease.
PharmGKBiPA26546.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 988988Chloride channel protein 1PRO_0000094429Add
BLAST

Proteomic databases

PaxDbiP35523.
PRIDEiP35523.

PTM databases

PhosphoSiteiP35523.

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscles.

Gene expression databases

BgeeiP35523.
CleanExiHS_CLCN1.
ExpressionAtlasiP35523. baseline and differential.
GenevestigatoriP35523.

Interactioni

Subunit structurei

Homotetramer.Curated

Protein-protein interaction databases

STRINGi9606.ENSP00000339867.

Structurei

3D structure databases

ProteinModelPortaliP35523.
SMRiP35523. Positions 120-670, 797-872.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 114114CytoplasmicBy similarityAdd
BLAST
Topological domaini574 – 988415CytoplasmicBy 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
Domaini821 – 87656CBS 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.
InParanoidiP35523.
KOiK05010.
OMAiFTFPPGM.
OrthoDBiEOG77WWCD.
PhylomeDBiP35523.
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.

P35523-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA
60 70 80 90 100
GPRHNVHPTQ IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ
110 120 130 140 150
DCIHRLGQVV RRKLGEDGIF LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY
160 170 180 190 200
AQMQPSLPLQ FLVWVTFPLV LILFSALFCH LISPQAVGSG IPEMKTILRG
210 220 230 240 250
VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS ICAAVLSKFM
260 270 280 290 300
SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR
310 320 330 340 350
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA
360 370 380 390 400
FAAIGICCGL LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV
410 420 430 440 450
IASFTFPPGM GQFMAGELMP REAISTLFDN NTWVKHAGDP ESLGQSAVWI
460 470 480 490 500
HPRVNVVIII FLFFVMKFWM SIVATTMPIP CGGFMPVFVL GAAFGRLVGE
510 520 530 540 550
IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV STAVICFELT
560 570 580 590 600
GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK
610 620 630 640 650
YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG
660 670 680 690 700
SVERSELQAL LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA
710 720 730 740 750
PPGRPESFAF VDEDEDEDLS GKSELPPSLA LHPSTTAPLS PEEPNGPLPG
760 770 780 790 800
HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR PTKKKTTQDS TDLVDNMSPE
810 820 830 840 850
EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL FSLLGLHLAY
860 870 880 890 900
VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP
910 920 930 940 950
PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE
960 970 980
LEELELVESP GLEEELADIL QGPSLRSTDE EDEDELIL
Length:988
Mass (Da):108,626
Last modified:November 2, 2010 - v3
Checksum:iCA838BCD2AF3CA68
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti697 – 6971L → P in CAA80996. (PubMed:8112288)Curated
Sequence conflicti697 – 6971L → P in CAA81103. (PubMed:8112288)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051R → C in MCR.
Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
VAR_001582
Natural varianti118 – 1181G → W.3 Publications
Corresponds to variant rs10282312 [ dbSNP | Ensembl ].
VAR_001583
Natural varianti136 – 1361D → G in MCR. 1 Publication
VAR_001584
Natural varianti150 – 1501Y → C in MCR. 1 Publication
VAR_001585
Natural varianti161 – 1611F → V in MCD and MCR. 1 Publication
VAR_001586
Natural varianti165 – 1651V → G in MCR.
VAR_001587
Natural varianti167 – 1671F → L in MCR. 1 Publication
Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
VAR_001588
Natural varianti200 – 2001G → R in MCD and MCR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCD and MCR. 1 Publication
VAR_001590
Natural varianti236 – 2361V → L in MCR. 1 Publication
VAR_001591
Natural varianti261 – 2611Y → C in MCR. 1 Publication
Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
VAR_001592
Natural varianti285 – 2851G → E in MCR. 1 Publication
VAR_001593
Natural varianti286 – 2861V → A in MCD. 1 Publication
VAR_001594
Natural varianti290 – 2901I → M in MCD. 1 Publication
VAR_001595
Natural varianti291 – 2911E → K in MCR.
VAR_001596
Natural varianti300 – 3001R → Q.1 Publication
Corresponds to variant rs118066140 [ dbSNP | Ensembl ].
VAR_001597
Natural varianti307 – 3071F → S in MCD. 1 Publication
VAR_001598
Natural varianti313 – 3131A → T in MCD and MCR. 1 Publication
VAR_001599
Natural varianti317 – 3171R → Q in MCD.
VAR_001600
Natural varianti327 – 3271V → I in MCR.
VAR_001601
Natural varianti329 – 3291I → T in MCR.
VAR_001602
Natural varianti338 – 3381R → Q in MCD and MCR. 1 Publication
VAR_001603
Natural varianti413 – 4131F → C in MCR. 1 Publication
VAR_001604
Natural varianti415 – 4151A → V in MCR. 1 Publication
VAR_001605
Natural varianti437 – 4371A → T.
Corresponds to variant rs41276054 [ dbSNP | Ensembl ].
VAR_001606
Natural varianti480 – 4801P → L in MCD. 1 Publication
VAR_001607
Natural varianti482 – 4821G → R in MCR.
VAR_001608
Natural varianti485 – 4851M → V in MCR. 1 Publication
Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
VAR_001609
Natural varianti496 – 4961R → S in MCR. 1 Publication
VAR_001610
Natural varianti548 – 5481E → K in a breast cancer sample; somatic mutation. 1 Publication
VAR_036300
Natural varianti552 – 5521Q → R in MCD, MCR and in myotonia levior. 1 Publication
VAR_001611
Natural varianti556 – 5561I → N in MCD and MCR; mild form. 2 Publications
VAR_001612
Natural varianti563 – 5631V → I in MCR. 1 Publication
VAR_001613
Natural varianti708 – 7081F → L in MCR. 1 Publication
VAR_001614
Natural varianti727 – 7271P → L.
Corresponds to variant rs13438232 [ dbSNP | Ensembl ].
VAR_047779

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z25587 Genomic DNA. Translation: CAA80996.1.
Z25884 mRNA. Translation: CAA81103.1.
CH236959 Genomic DNA. Translation: EAL23786.1.
BC112156 mRNA. Translation: AAI12157.1.
BC113495 mRNA. Translation: AAI13496.1.
M97820 mRNA. No translation available.
L08261 Genomic DNA. No translation available.
L08262 Genomic DNA. No translation available.
L08263 Genomic DNA. No translation available.
L08264 Genomic DNA. No translation available.
L08265 Genomic DNA. No translation available.
Z25753
, Z25754, Z25755, Z25756, Z25757, Z25758, Z25759, Z25760, Z25761, Z25762, Z25763, Z25764, Z25765, Z25766, Z25767, Z25752 Genomic DNA. Translation: CAB56792.1.
Z25768, Z25872 Genomic DNA. Translation: CAB56814.1.
CCDSiCCDS5881.1.
PIRiS37078.
RefSeqiNP_000074.2. NM_000083.2.
UniGeneiHs.121483.

Genome annotation databases

EnsembliENST00000343257; ENSP00000339867; ENSG00000188037.
GeneIDi1180.
KEGGihsa:1180.
UCSCiuc003wcr.1. human.

Polymorphism databases

DMDMi311033468.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z25587 Genomic DNA. Translation: CAA80996.1 .
Z25884 mRNA. Translation: CAA81103.1 .
CH236959 Genomic DNA. Translation: EAL23786.1 .
BC112156 mRNA. Translation: AAI12157.1 .
BC113495 mRNA. Translation: AAI13496.1 .
M97820 mRNA. No translation available.
L08261 Genomic DNA. No translation available.
L08262 Genomic DNA. No translation available.
L08263 Genomic DNA. No translation available.
L08264 Genomic DNA. No translation available.
L08265 Genomic DNA. No translation available.
Z25753
, Z25754 , Z25755 , Z25756 , Z25757 , Z25758 , Z25759 , Z25760 , Z25761 , Z25762 , Z25763 , Z25764 , Z25765 , Z25766 , Z25767 , Z25752 Genomic DNA. Translation: CAB56792.1 .
Z25768 , Z25872 Genomic DNA. Translation: CAB56814.1 .
CCDSi CCDS5881.1.
PIRi S37078.
RefSeqi NP_000074.2. NM_000083.2.
UniGenei Hs.121483.

3D structure databases

ProteinModelPortali P35523.
SMRi P35523. Positions 120-670, 797-872.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000339867.

Chemistry

GuidetoPHARMACOLOGYi 698.

Protein family/group databases

TCDBi 2.A.49.2.1. the chloride carrier/channel (clc) family.

PTM databases

PhosphoSitei P35523.

Polymorphism databases

DMDMi 311033468.

Proteomic databases

PaxDbi P35523.
PRIDEi P35523.

Protocols and materials databases

DNASUi 1180.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000343257 ; ENSP00000339867 ; ENSG00000188037 .
GeneIDi 1180.
KEGGi hsa:1180.
UCSCi uc003wcr.1. human.

Organism-specific databases

CTDi 1180.
GeneCardsi GC07P143013.
GeneReviewsi CLCN1.
HGNCi HGNC:2019. CLCN1.
MIMi 118425. gene.
160800. phenotype.
255700. phenotype.
neXtProti NX_P35523.
Orphaneti 614. Thomsen and Becker disease.
PharmGKBi PA26546.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0038.
GeneTreei ENSGT00760000119109.
HOGENOMi HOG000231297.
HOVERGENi HBG005332.
InParanoidi P35523.
KOi K05010.
OMAi FTFPPGM.
OrthoDBi EOG77WWCD.
PhylomeDBi P35523.
TreeFami TF352264.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.

Miscellaneous databases

GeneWikii CLCN1.
GenomeRNAii 1180.
NextBioi 4876.
PROi P35523.
SOURCEi Search...

Gene expression databases

Bgeei P35523.
CleanExi HS_CLCN1.
ExpressionAtlasi P35523. baseline and differential.
Genevestigatori P35523.

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. "Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)."
    Steinmeyer K., Lorenz C., Pusch M., Koch M.C., Jentsch T.J.
    EMBO J. 13:737-743(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD LEU-480, VARIANT TRP-118.
  2. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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], VARIANT TRP-118.
  4. "The skeletal muscle chloride channel in dominant and recessive human myotonia."
    Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.-H., Jentsch T.J.
    Science 257:797-800(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 171-988, VARIANT MCR CYS-413.
  5. "Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)."
    George A.L. Jr., Crackower M.A., Abdalla J.A., Hudson A.J., Ebers G.C.
    Nat. Genet. 3:305-310(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD GLU-230.
  6. "Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia."
    Lorenz C., Meyer-Kleine C., Steinmeyer K., Koch M.C., Jentsch T.J.
    Hum. Mol. Genet. 3:941-946(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCR SER-496.
  7. "Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion."
    Heine R., George A.L. Jr., Pika U., Deymeer F., Ruedel R., Lehmann-Horn F.
    Hum. Mol. Genet. 3:1123-1128(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCR GLY-136.
  8. "Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita."
    George A.L. Jr., Sloan-Brown K., Fenichel G.M., Mitchell G.A., Spiegel R., Pascuzzi R.M.
    Hum. Mol. Genet. 3:2071-2072(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCR LEU-167 AND GLN-338, VARIANT GLN-300.
  9. "Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia."
    Meyer-Kleine C., Steinmeyer K., Ricker K., Jentsch T.J., Koch M.C.
    Am. J. Hum. Genet. 57:1325-1334(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCR AND MCD.
  10. Cited for: VARIANT MCD MET-290, VARIANT MYOTONIA LEVIOR ARG-552, VARIANT TRP-118.
  11. "Novel muscle chloride channel mutations and their effects on heterozygous carriers."
    Mailaender V., Heine R., Deymeer F., Lehmann-Horn F.
    Am. J. Hum. Genet. 58:317-324(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCR CYS-150; ARG-200; CYS-261 AND VAL-415.
  12. "ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence."
    Kubisch C., Schmidt-Rose T., Fontaine B., Bretag A.H., Jentsch T.J.
    Hum. Mol. Genet. 7:1753-1760(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCD/MCR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556.
  13. "Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita."
    Sangiuolo F., Botta A., Mesoraca A., Servidei S., Merlini L., Fratta G., Novelli G., Dallapiccola B.
    Hum. Mutat. 11:331-331(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCR ILE-563 AND LEU-708.
  14. "Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance."
    Plassart-Schiess E., Gervais A., Eymard B., Lagueny A., Pouget J., Warter J.-M., Fardeau M., Jentsch T.J., Fontaine B.
    Neurology 50:1176-1179(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCD/MCR VAL-161; THR-313 AND ASN-556.
  15. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-548.

Entry informationi

Entry nameiCLCN1_HUMAN
AccessioniPrimary (citable) accession number: P35523
Secondary accession number(s): A4D2H5, Q2M202
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 145 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

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.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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