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Protein

Chloride channel protein 1

Gene

CLCN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.9 Publications

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

  • chloride ion binding Source: GO_Central
  • protein homodimerization activity Source: UniProtKB
  • voltage-gated chloride channel activity Source: UniProtKB

GO - Biological processi

  • chloride transmembrane transport Source: UniProtKB
  • ion transmembrane transport Source: Reactome
  • muscle contraction Source: UniProtKB
  • neuronal action potential propagation Source: Ensembl
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

ReactomeiR-HSA-2672351. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:2019. CLCN1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 114114CytoplasmicBy similarityAdd
BLAST
Transmembranei115 – 15238HelicalBy similarityAdd
BLAST
Transmembranei159 – 18224HelicalBy similarityAdd
BLAST
Intramembranei191 – 1988HelicalBy similarity
Transmembranei207 – 22519HelicalBy similarityAdd
BLAST
Transmembranei232 – 25019HelicalBy similarityAdd
BLAST
Intramembranei266 – 27813HelicalBy similarityAdd
BLAST
Intramembranei282 – 2909HelicalBy similarity
Transmembranei302 – 32120HelicalBy similarityAdd
BLAST
Transmembranei348 – 37629HelicalBy similarityAdd
BLAST
Transmembranei385 – 40420HelicalBy similarityAdd
BLAST
Transmembranei454 – 47421HelicalBy similarityAdd
BLAST
Transmembranei482 – 50524HelicalBy similarityAdd
BLAST
Intramembranei522 – 53615HelicalBy similarityAdd
BLAST
Intramembranei537 – 5382Note=Loop between two helicesBy similarity
Intramembranei539 – 55012HelicalBy similarityAdd
BLAST
Intramembranei551 – 5555Note=Loop between two helicesBy similarity
Transmembranei556 – 57318HelicalBy similarityAdd
BLAST
Topological domaini574 – 988415CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Myotonia congenita, autosomal dominant (MCAD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:160800
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti128 – 1281M → V in MCAD. 1 Publication
Corresponds to variant rs80356699 [ dbSNP | Ensembl ].
VAR_075591
Natural varianti161 – 1611F → V in MCAD and MCAR. 1 Publication
VAR_001586
Natural varianti193 – 1931E → K in MCAD. 1 Publication
Corresponds to variant rs80356686 [ dbSNP | Ensembl ].
VAR_075597
Natural varianti198 – 1981L → P in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication
VAR_075599
Natural varianti200 – 2001G → R in MCAD and MCAR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCAD and MCAR; changed ion selectivity; loss of chloride transport; mild dominant effect. 3 Publications
Corresponds to variant rs80356700 [ dbSNP | Ensembl ].
VAR_001590
Natural varianti286 – 2861V → A in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel; dominant negative effect. 1 Publication
Corresponds to variant rs80356689 [ dbSNP | Ensembl ].
VAR_001594
Natural varianti290 – 2901I → M in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 Publications
Corresponds to variant rs80356690 [ dbSNP | Ensembl ].
VAR_001595
Natural varianti307 – 3071F → S in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 Publications
Corresponds to variant rs80356701 [ dbSNP | Ensembl ].
VAR_001598
Natural varianti313 – 3131A → T in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356692 [ dbSNP | Ensembl ].
VAR_001599
Natural varianti317 – 3171R → Q in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel. 2 Publications
Corresponds to variant rs80356702 [ dbSNP | Ensembl ].
VAR_001600
Natural varianti338 – 3381R → Q in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356703 [ dbSNP | Ensembl ].
VAR_001603
Natural varianti480 – 4801P → L in MCAD; loss of chloride transport; changed chloride channel activity; changed gating of the channel; dominant effect. 3 Publications
Corresponds to variant rs80356694 [ dbSNP | Ensembl ].
VAR_001607
Natural varianti484 – 4841F → L in MCAD; reduced chloride transport; changed calcium channel activity; changed channel gating; no dominant negative effect. 1 Publication
VAR_075605
Natural varianti552 – 5521Q → R in MCAD and MCAR; also found in myotonia levior; reduced chloride transport; changed calcium channel activity; changed channel gating; weak dominant negative effect. 3 Publications
Corresponds to variant rs80356696 [ dbSNP | Ensembl ].
VAR_001611
Natural varianti556 – 5561I → N in MCAD and MCAR; mild form; reduced chloride transport; changed chloride channel activity; changed gating of the channel; partial dominant negative effect. 2 Publications
Corresponds to variant rs80356697 [ dbSNP | Ensembl ].
VAR_001612
Myotonia congenita, autosomal recessive (MCAR)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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).
See also OMIM:255700
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431Q → R in MCAR; decreased chloride transport; decreased localization to the plasma membrane; dominant negative effect on chloride transport and localization to the plasma membrane; no significant effect on chloride channel activity; no effect on homodimerization. 1 Publication
VAR_075588
Natural varianti70 – 701S → L in MCAR; unknown pathological significance; no effect on chloride transport. 1 Publication
Corresponds to variant rs769312894 [ dbSNP | Ensembl ].
VAR_075589
Natural varianti82 – 821T → A in MCAR; unknown pathological significance; no effect on chloride transport. 1 Publication
Corresponds to variant rs772100356 [ dbSNP | Ensembl ].
VAR_075590
Natural varianti105 – 1051R → C in MCAR; no effect on chloride transport. 1 Publication
Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
VAR_001582
Natural varianti136 – 1361D → G in MCAR. 1 Publication
VAR_001584
Natural varianti137 – 1371Y → D in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 Publication
Corresponds to variant rs748639603 [ dbSNP | Ensembl ].
VAR_075592
Natural varianti150 – 1501Y → C in MCAR. 1 Publication
VAR_001585
Natural varianti160 – 1601Q → H in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 Publication
Corresponds to variant rs771532474 [ dbSNP | Ensembl ].
VAR_075594
Natural varianti161 – 1611F → V in MCAD and MCAR. 1 Publication
VAR_001586
Natural varianti164 – 1641W → R in MCAR; altered chloride channel activity. 1 Publication
VAR_075595
Natural varianti165 – 1651V → G in MCAR.
VAR_001587
Natural varianti167 – 1671F → L in MCAR; no effect on chloride transport. 3 Publications
Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
VAR_001588
Natural varianti190 – 1901G → S in MCAR; loss of chloride channel activity. 3 Publications
VAR_075596
Natural varianti197 – 1971I → R in MCAR; changed chloride channel activity. 1 Publication
VAR_075598
Natural varianti200 – 2001G → R in MCAD and MCAR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCAD and MCAR; changed ion selectivity; loss of chloride transport; mild dominant effect. 3 Publications
Corresponds to variant rs80356700 [ dbSNP | Ensembl ].
VAR_001590
Natural varianti236 – 2361V → L in MCAR; loss of chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication
VAR_001591
Natural varianti261 – 2611Y → C in MCAR. 1 Publication
Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
VAR_001592
Natural varianti270 – 2701G → V in MCAR; decreased chloride channel activity. 1 Publication
VAR_075600
Natural varianti277 – 2771C → R in MCAR; reduced chloride transport; no effect on protein abundance. 1 Publication
VAR_075601
Natural varianti277 – 2771C → Y in MCAR; reduced chloride transport; changed calcium channel activity; changed gating of the channel; no effect on protein abundance. 1 Publication
VAR_075602
Natural varianti285 – 2851G → E in MCAR; loss of chloride channel activity. 2 Publications
Corresponds to variant rs150885084 [ dbSNP | Ensembl ].
VAR_001593
Natural varianti291 – 2911E → K in MCAR; loss of calcium channel activity; no dominant negative effect. 2 Publications
Corresponds to variant rs121912805 [ dbSNP | Ensembl ].
VAR_001596
Natural varianti313 – 3131A → T in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356692 [ dbSNP | Ensembl ].
VAR_001599
Natural varianti327 – 3271V → I in MCAR.
Corresponds to variant rs774396430 [ dbSNP | Ensembl ].
VAR_001601
Natural varianti329 – 3291I → T in MCAR.
VAR_001602
Natural varianti338 – 3381R → Q in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356703 [ dbSNP | Ensembl ].
VAR_001603
Natural varianti412 – 4121Q → P in MCAR; loss of chloride transport; decreased localization to the plasma membrane; loss of homodimerization; might be degraded. 1 Publication
VAR_075603
Natural varianti413 – 4131F → C in MCAR. 1 Publication
Corresponds to variant rs121912799 [ dbSNP | Ensembl ].
VAR_001604
Natural varianti415 – 4151A → V in MCAR. 1 Publication
VAR_001605
Natural varianti453 – 4531R → W in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 Publication
Corresponds to variant rs376026619 [ dbSNP | Ensembl ].
VAR_075604
Natural varianti482 – 4821G → R in MCAR.
Corresponds to variant rs746125212 [ dbSNP | Ensembl ].
VAR_001608
Natural varianti485 – 4851M → V in MCAR. 1 Publication
Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
VAR_001609
Natural varianti496 – 4961R → S in MCAR; loss of chloride channel activity; recessive. 2 Publications
Corresponds to variant rs121912801 [ dbSNP | Ensembl ].
VAR_001610
Natural varianti499 – 4991G → R in MCAR; reduced chloride transport; changed calcium channel activity; changed channel gating. 1 Publication
Corresponds to variant rs121912807 [ dbSNP | Ensembl ].
VAR_075606
Natural varianti527 – 5271I → T in MCAR; unknown pathological significance. 1 Publication
VAR_075607
Natural varianti533 – 5331T → I in MCAR; unknown pathological significance. 1 Publication
VAR_075608
Natural varianti536 – 5361V → L in MCAR; unknown pathological significance. 1 Publication
VAR_075609
Natural varianti552 – 5521Q → R in MCAD and MCAR; also found in myotonia levior; reduced chloride transport; changed calcium channel activity; changed channel gating; weak dominant negative effect. 3 Publications
Corresponds to variant rs80356696 [ dbSNP | Ensembl ].
VAR_001611
Natural varianti556 – 5561I → N in MCAD and MCAR; mild form; reduced chloride transport; changed chloride channel activity; changed gating of the channel; partial dominant negative effect. 2 Publications
Corresponds to variant rs80356697 [ dbSNP | Ensembl ].
VAR_001612
Natural varianti563 – 5631V → I in MCAR. 1 Publication
VAR_001613
Natural varianti628 – 6281L → P in MCAR; unknown pathological significance; no effect on calcium channel activity. 1 Publication
VAR_075611
Natural varianti640 – 6401V → G in MCAR; reduced calcium channel activity. 1 Publication
VAR_075612
Natural varianti708 – 7081F → L in MCAR. 1 Publication
VAR_001614
Natural varianti845 – 8451G → S in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 Publication
Corresponds to variant rs755433272 [ dbSNP | Ensembl ].
VAR_075613
Natural varianti855 – 8551G → E in MCAR; unknown pathological significance. 1 Publication
VAR_075614
Natural varianti932 – 9321P → L in MCAR; unknown pathological significance. 1 Publication
Corresponds to variant rs80356706 [ dbSNP | Ensembl ].
VAR_075615
Natural varianti947 – 9471V → E in MCAR; unknown pathological significance. 1 Publication
VAR_075616

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi290 – 2901I → C, E, F, G, K, L, Q, T, V or Y: Changed chloride channel activity; changed gating of the channel. 1 Publication
Mutagenesisi291 – 2911E → D: No effect on calcium channel activity. 1 Publication
Mutagenesisi291 – 2911E → L: Loss of calcium channel activity. 1 Publication
Mutagenesisi496 – 4961R → K: Changed gating of the channel. 1 Publication
Mutagenesisi499 – 4991G → K or E: Changed gating of the channel. 1 Publication
Mutagenesisi499 – 4991G → Q: No effect on gating of the channel. 1 Publication
Mutagenesisi500 – 5001E → Q: No effect on channel function. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiCLCN1.
MIMi160800. phenotype.
255700. phenotype.
Orphaneti614. Thomsen and Becker disease.
PharmGKBiPA26546.

Polymorphism and mutation databases

BioMutaiCLCN1.
DMDMi311033468.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei886 – 8861PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP35523.
PaxDbiP35523.
PeptideAtlasiP35523.
PRIDEiP35523.

PTM databases

iPTMnetiP35523.
PhosphoSiteiP35523.

Expressioni

Tissue specificityi

Predominantly expressed in skeletal muscles.

Gene expression databases

BgeeiP35523.
CleanExiHS_CLCN1.
ExpressionAtlasiP35523. baseline and differential.
GenevisibleiP35523. HS.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
APPBP2Q926243EBI-10206780,EBI-743771
FAM9BQ8IZU03EBI-10206780,EBI-10175124

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi107594. 7 interactions.
IntActiP35523. 2 interactions.
STRINGi9606.ENSP00000339867.

Chemistry

BindingDBiP35523.

Structurei

3D structure databases

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

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

eggNOGiKOG0476. Eukaryota.
COG0038. LUCA.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231297.
HOVERGENiHBG005332.
InParanoidiP35523.
KOiK05010.
OMAiDMLTVGC.
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]
PfamiPF00654. 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 varianti43 – 431Q → R in MCAR; decreased chloride transport; decreased localization to the plasma membrane; dominant negative effect on chloride transport and localization to the plasma membrane; no significant effect on chloride channel activity; no effect on homodimerization. 1 Publication
VAR_075588
Natural varianti70 – 701S → L in MCAR; unknown pathological significance; no effect on chloride transport. 1 Publication
Corresponds to variant rs769312894 [ dbSNP | Ensembl ].
VAR_075589
Natural varianti82 – 821T → A in MCAR; unknown pathological significance; no effect on chloride transport. 1 Publication
Corresponds to variant rs772100356 [ dbSNP | Ensembl ].
VAR_075590
Natural varianti105 – 1051R → C in MCAR; no effect on chloride transport. 1 Publication
Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
VAR_001582
Natural varianti118 – 1181G → W.2 Publications
Corresponds to variant rs10282312 [ dbSNP | Ensembl ].
VAR_001583
Natural varianti128 – 1281M → V in MCAD. 1 Publication
Corresponds to variant rs80356699 [ dbSNP | Ensembl ].
VAR_075591
Natural varianti136 – 1361D → G in MCAR. 1 Publication
VAR_001584
Natural varianti137 – 1371Y → D in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 Publication
Corresponds to variant rs748639603 [ dbSNP | Ensembl ].
VAR_075592
Natural varianti150 – 1501Y → C in MCAR. 1 Publication
VAR_001585
Natural varianti154 – 1541Q → R Polymorphism; no effect on chloride transport. 1 Publication
Corresponds to variant rs111482384 [ dbSNP | Ensembl ].
VAR_075593
Natural varianti160 – 1601Q → H in MCAR; reduced chloride transport; decreased localization to the plasma membrane; no significant effect on chloride channel activity. 1 Publication
Corresponds to variant rs771532474 [ dbSNP | Ensembl ].
VAR_075594
Natural varianti161 – 1611F → V in MCAD and MCAR. 1 Publication
VAR_001586
Natural varianti164 – 1641W → R in MCAR; altered chloride channel activity. 1 Publication
VAR_075595
Natural varianti165 – 1651V → G in MCAR.
VAR_001587
Natural varianti167 – 1671F → L in MCAR; no effect on chloride transport. 3 Publications
Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
VAR_001588
Natural varianti190 – 1901G → S in MCAR; loss of chloride channel activity. 3 Publications
VAR_075596
Natural varianti193 – 1931E → K in MCAD. 1 Publication
Corresponds to variant rs80356686 [ dbSNP | Ensembl ].
VAR_075597
Natural varianti197 – 1971I → R in MCAR; changed chloride channel activity. 1 Publication
VAR_075598
Natural varianti198 – 1981L → P in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication
VAR_075599
Natural varianti200 – 2001G → R in MCAD and MCAR. 1 Publication
VAR_001589
Natural varianti230 – 2301G → E in MCAD and MCAR; changed ion selectivity; loss of chloride transport; mild dominant effect. 3 Publications
Corresponds to variant rs80356700 [ dbSNP | Ensembl ].
VAR_001590
Natural varianti236 – 2361V → L in MCAR; loss of chloride transport; changed calcium channel activity; changed gating of the channel. 1 Publication
VAR_001591
Natural varianti261 – 2611Y → C in MCAR. 1 Publication
Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
VAR_001592
Natural varianti270 – 2701G → V in MCAR; decreased chloride channel activity. 1 Publication
VAR_075600
Natural varianti277 – 2771C → R in MCAR; reduced chloride transport; no effect on protein abundance. 1 Publication
VAR_075601
Natural varianti277 – 2771C → Y in MCAR; reduced chloride transport; changed calcium channel activity; changed gating of the channel; no effect on protein abundance. 1 Publication
VAR_075602
Natural varianti285 – 2851G → E in MCAR; loss of chloride channel activity. 2 Publications
Corresponds to variant rs150885084 [ dbSNP | Ensembl ].
VAR_001593
Natural varianti286 – 2861V → A in MCAD; reduced chloride transport; changed calcium channel activity; changed gating of the channel; dominant negative effect. 1 Publication
Corresponds to variant rs80356689 [ dbSNP | Ensembl ].
VAR_001594
Natural varianti290 – 2901I → M in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 Publications
Corresponds to variant rs80356690 [ dbSNP | Ensembl ].
VAR_001595
Natural varianti291 – 2911E → K in MCAR; loss of calcium channel activity; no dominant negative effect. 2 Publications
Corresponds to variant rs121912805 [ dbSNP | Ensembl ].
VAR_001596
Natural varianti300 – 3001R → Q Polymorphism; no effect on chloride transport. 2 Publications
Corresponds to variant rs118066140 [ dbSNP | Ensembl ].
VAR_001597
Natural varianti307 – 3071F → S in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel; dominant negative effect. 2 Publications
Corresponds to variant rs80356701 [ dbSNP | Ensembl ].
VAR_001598
Natural varianti313 – 3131A → T in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356692 [ dbSNP | Ensembl ].
VAR_001599
Natural varianti317 – 3171R → Q in MCAD; reduced chloride transport; changed chloride channel activity; changed gating of the channel. 2 Publications
Corresponds to variant rs80356702 [ dbSNP | Ensembl ].
VAR_001600
Natural varianti327 – 3271V → I in MCAR.
Corresponds to variant rs774396430 [ dbSNP | Ensembl ].
VAR_001601
Natural varianti329 – 3291I → T in MCAR.
VAR_001602
Natural varianti338 – 3381R → Q in MCAD and MCAR. 1 Publication
Corresponds to variant rs80356703 [ dbSNP | Ensembl ].
VAR_001603
Natural varianti412 – 4121Q → P in MCAR; loss of chloride transport; decreased localization to the plasma membrane; loss of homodimerization; might be degraded. 1 Publication
VAR_075603
Natural varianti413 – 4131F → C in MCAR. 1 Publication
Corresponds to variant rs121912799 [ dbSNP | Ensembl ].
VAR_001604
Natural varianti415 – 4151A → V in MCAR. 1 Publication
VAR_001605
Natural varianti437 – 4371A → T Polymorphism. 1 Publication
Corresponds to variant rs41276054 [ dbSNP | Ensembl ].
VAR_001606
Natural varianti453 – 4531R → W in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 Publication
Corresponds to variant rs376026619 [ dbSNP | Ensembl ].
VAR_075604
Natural varianti480 – 4801P → L in MCAD; loss of chloride transport; changed chloride channel activity; changed gating of the channel; dominant effect. 3 Publications
Corresponds to variant rs80356694 [ dbSNP | Ensembl ].
VAR_001607
Natural varianti482 – 4821G → R in MCAR.
Corresponds to variant rs746125212 [ dbSNP | Ensembl ].
VAR_001608
Natural varianti484 – 4841F → L in MCAD; reduced chloride transport; changed calcium channel activity; changed channel gating; no dominant negative effect. 1 Publication
VAR_075605
Natural varianti485 – 4851M → V in MCAR. 1 Publication
Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
VAR_001609
Natural varianti496 – 4961R → S in MCAR; loss of chloride channel activity; recessive. 2 Publications
Corresponds to variant rs121912801 [ dbSNP | Ensembl ].
VAR_001610
Natural varianti499 – 4991G → R in MCAR; reduced chloride transport; changed calcium channel activity; changed channel gating. 1 Publication
Corresponds to variant rs121912807 [ dbSNP | Ensembl ].
VAR_075606
Natural varianti527 – 5271I → T in MCAR; unknown pathological significance. 1 Publication
VAR_075607
Natural varianti533 – 5331T → I in MCAR; unknown pathological significance. 1 Publication
VAR_075608
Natural varianti536 – 5361V → L in MCAR; unknown pathological significance. 1 Publication
VAR_075609
Natural varianti548 – 5481E → K in a breast cancer sample; somatic mutation. 1 Publication
Corresponds to variant rs546411827 [ dbSNP | Ensembl ].
VAR_036300
Natural varianti552 – 5521Q → R in MCAD and MCAR; also found in myotonia levior; reduced chloride transport; changed calcium channel activity; changed channel gating; weak dominant negative effect. 3 Publications
Corresponds to variant rs80356696 [ dbSNP | Ensembl ].
VAR_001611
Natural varianti556 – 5561I → N in MCAD and MCAR; mild form; reduced chloride transport; changed chloride channel activity; changed gating of the channel; partial dominant negative effect. 2 Publications
Corresponds to variant rs80356697 [ dbSNP | Ensembl ].
VAR_001612
Natural varianti563 – 5631V → I in MCAR. 1 Publication
VAR_001613
Natural varianti614 – 6141K → N Polymorphism. 1 Publication
Corresponds to variant rs140205115 [ dbSNP | Ensembl ].
VAR_075610
Natural varianti628 – 6281L → P in MCAR; unknown pathological significance; no effect on calcium channel activity. 1 Publication
VAR_075611
Natural varianti640 – 6401V → G in MCAR; reduced calcium channel activity. 1 Publication
VAR_075612
Natural varianti708 – 7081F → L in MCAR. 1 Publication
VAR_001614
Natural varianti727 – 7271P → L.
Corresponds to variant rs13438232 [ dbSNP | Ensembl ].
VAR_047779
Natural varianti845 – 8451G → S in MCAR; unknown pathological significance; no effect on chloride channel activity. 1 Publication
Corresponds to variant rs755433272 [ dbSNP | Ensembl ].
VAR_075613
Natural varianti855 – 8551G → E in MCAR; unknown pathological significance. 1 Publication
VAR_075614
Natural varianti932 – 9321P → L in MCAR; unknown pathological significance. 1 Publication
Corresponds to variant rs80356706 [ dbSNP | Ensembl ].
VAR_075615
Natural varianti947 – 9471V → E in MCAR; unknown pathological significance. 1 Publication
VAR_075616

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi107594. 7 interactions.
IntActiP35523. 2 interactions.
STRINGi9606.ENSP00000339867.

Chemistry

BindingDBiP35523.

Protein family/group databases

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

PTM databases

iPTMnetiP35523.
PhosphoSiteiP35523.

Polymorphism and mutation databases

BioMutaiCLCN1.
DMDMi311033468.

Proteomic databases

EPDiP35523.
PaxDbiP35523.
PeptideAtlasiP35523.
PRIDEiP35523.

Protocols and materials databases

DNASUi1180.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000343257; ENSP00000339867; ENSG00000188037.
GeneIDi1180.
KEGGihsa:1180.
UCSCiuc003wcr.2. human.

Organism-specific databases

CTDi1180.
GeneCardsiCLCN1.
GeneReviewsiCLCN1.
HGNCiHGNC:2019. CLCN1.
MalaCardsiCLCN1.
MIMi118425. gene.
160800. phenotype.
255700. phenotype.
neXtProtiNX_P35523.
Orphaneti614. Thomsen and Becker disease.
PharmGKBiPA26546.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0476. Eukaryota.
COG0038. LUCA.
GeneTreeiENSGT00760000119109.
HOGENOMiHOG000231297.
HOVERGENiHBG005332.
InParanoidiP35523.
KOiK05010.
OMAiDMLTVGC.
OrthoDBiEOG77WWCD.
PhylomeDBiP35523.
TreeFamiTF352264.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiCLCN1. human.
GeneWikiiCLCN1.
GenomeRNAii1180.
PROiP35523.
SOURCEiSearch...

Gene expression databases

BgeeiP35523.
CleanExiHS_CLCN1.
ExpressionAtlasiP35523. baseline and differential.
GenevisibleiP35523. HS.

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]
PfamiPF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSiPR00762. CLCHANNEL.
PR01112. CLCHANNEL1.
SUPFAMiSSF81340. SSF81340. 1 hit.
PROSITEiPS51371. CBS. 2 hits.
[Graphical view]
ProtoNetiSearch...

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 MCAD LEU-480, VARIANT GLN-300, CHARACTERIZATION OF VARIANTS MCAD GLU-230 AND LEU-480, CHARACTERIZATION OF VARIANT GLN-300, FUNCTION.
  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 MCAR 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 MCAD GLU-230.
  6. "A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel."
    Fahlke C., Beck C.L., George A.L. Jr.
    Proc. Natl. Acad. Sci. U.S.A. 94:2729-2734(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF VARIANT MCAD GLU-230.
  7. "A novel alteration of muscle chloride channel gating in myotonia levior."
    Ryan A., Ruedel R., Kuchenbecker M., Fahlke C.
    J. Physiol. (Lond.) 545:345-354(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CHARACTERIZATION OF VARIANT MYOTONIA LEVIOR ARG-552.
  8. "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 MCAR SER-496, CHARACTERIZATION OF VARIANT MCAR SER-496, FUNCTION.
  9. "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 MCAR GLY-136.
  10. "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 MCAR LEU-167 AND GLN-338, VARIANT GLN-300.
  11. "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 MCAR AND MCAD.
  12. Cited for: VARIANT MCAD MET-290, VARIANT MYOTONIA LEVIOR ARG-552, VARIANT TRP-118.
  13. "Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel."
    Pusch M., Steinmeyer K., Koch M.C., Jentsch T.J.
    Neuron 15:1455-1463(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCAD MET-290, VARIANT MCAR LYS-291, CHARACTERIZATION OF VARIANTS MCAD MET-290; GLN-317 AND LEU-480, CHARACTERIZATION OF VARIANT MCAR LYS-291, CHARACTERIZATION OF VARIANT MYOTONIA LEVIOR ARG-552, MUTAGENESIS OF ILE-290 AND GLU-291.
  14. "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 MCAR CYS-150; ARG-200; CYS-261 AND VAL-415.
  15. "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 MCAD/MCAR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556, CHARACTERIZATION OF VARIANTS MCAD/MCAR LEU-236; GLU-285; ALA-286; SER-307 AND ASN-556, FUNCTION.
  16. "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 MCAR ILE-563 AND LEU-708.
  17. "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 MCAD/MCAR VAL-161; THR-313 AND ASN-556.
  18. "Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation."
    Zhang J., Sanguinetti M.C., Kwiecinski H., Ptacek L.J.
    J. Biol. Chem. 275:2999-3005(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCAR ARG-499, CHARACTERIZATION OF VARIANT MCAR ARG-499, MUTAGENESIS OF ARG-496; GLY-499 AND GLU-500.
  19. "A 'dystrophic' variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene."
    Nagamitsu S., Matsuura T., Khajavi M., Armstrong R., Gooch C., Harati Y., Ashizawa T.
    Neurology 55:1697-1703(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCAR LEU-932.
  20. "Decrement of compound muscle action potential is related to mutation type in myotonia congenita."
    Colding-Joergensen E., DunOe M., Schwartz M., Vissing J.
    Muscle Nerve 27:449-455(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCAD VAL-128; LYS-193; SER-307 AND LEU-480, VARIANT MCAR GLU-285, VARIANTS THR-437 AND ASN-614.
  21. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-548.
  22. "Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene."
    Shalata A., Furman H., Adir V., Adir N., Hujeirat Y., Shalev S.A., Borochowitz Z.U.
    Muscle Nerve 41:464-469(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MCAR SER-190.
  23. Cited for: VARIANTS MCAR ARG-164; ARG-197; ILE-533; LEU-536; SER-845 AND GLU-947, CHARACTERIZATION OF VARIANTS MCAR ARG-164; SER-190; ARG-197 AND SER-845, FUNCTION.
  24. "Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita."
    Weinberger S., Wojciechowski D., Sternberg D., Lehmann-Horn F., Jurkat-Rott K., Becher T., Begemann B., Fahlke C., Fischer M.
    J. Physiol. (Lond.) 590:3449-3464(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCAR LEU-167; ARG-277; TYR-277 AND THR-527, CHARACTERIZATION OF VARIANTS MCAR ARG-277 AND TYR-277.
  25. Cited for: VARIANTS MCAD PRO-198 AND LEU-484, CHARACTERIZATION OF VARIANTS MCAD PRO-198 AND LEU-484, VARIANTS MCAR PRO-628 AND GLY-640, CHARACTERIZATION OF VARIANTS MCAR PRO-628 AND GLY-640.
  26. "Clinical, molecular, and functional characterization of CLCN1 mutations in three families with recessive myotonia congenita."
    Portaro S., Altamura C., Licata N., Camerino G.M., Imbrici P., Musumeci O., Rodolico C., Conte Camerino D., Toscano A., Desaphy J.F.
    NeuroMolecular Med. 17:285-296(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCAR ALA-82; SER-190; VAL-270 AND TRP-453, CHARACTERIZATION OF VARIANTS MCAR ALA-82; SER-190; VAL-270 AND TRP-453, FUNCTION.
  27. "Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations."
    Ronstedt K., Sternberg D., Detro-Dassen S., Gramkow T., Begemann B., Becher T., Kilian P., Grieschat M., Machtens J.P., Schmalzing G., Fischer M., Fahlke C.
    Sci. Rep. 5:15382-15382(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCAR ARG-43; LEU-70; ASP-137; HIS-160; SER-496 AND GLU-855, CHARACTERIZATION OF VARIANTS MCAR ARG-43; LEU-70; ASP-137 AND HIS-160, FUNCTION, SUBCELLULAR LOCATION, SUBUNIT.
  28. "Identification and functional characterization of CLCN1 mutations found in nondystrophic myotonia patients."
    Vindas-Smith R., Fiore M., Vasquez M., Cuenca P., Del Valle G., Lagostena L., Gaitan-Penas H., Estevez R., Pusch M., Morales F.
    Hum. Mutat. 37:74-83(2016) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MCAR CYS-105; LEU-167 AND PRO-412, VARIANT ARG-154, CHARACTERIZATION OF VARIANTS MCAR CYS-105; LEU-167 AND PRO-412, CHARACTERIZATION OF VARIANT ARG-154, FUNCTION.

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: July 6, 2016
This is version 162 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.