(data stored in ACNUC15468 zone)

HOGENOM: HS7_PE4249

ID   HS7_PE4249                           STANDARD;      PRT;   988 AA.
AC   HS7_PE4249; P35523; A4D2H5; Q2M202;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Chloride channel protein 1; Short=ClC-1;AltName:
DE   Full=Chloride channel protein, skeletal muscle; (HS7.PE4249).
GN   Name=CLCN1; Synonyms=CLC1;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS7.PE4249.
CC       Homo sapiens chromosome 7 GRCh37  sequence 1..159128663 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:CLCN1_HUMAN
CC   -!- FUNCTION: Voltage-gated chloride channel. Chloride channels have
CC       several functions including the regulation of cell volume;
CC       membrane potential stabilization, signal transduction and
CC       transepithelial transport.
CC   -!- SUBUNIT: Homotetramer (Probable).
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- TISSUE SPECIFICITY: Predominantly expressed in skeletal muscles.
CC   -!- DISEASE: Defects in CLCN1 are the cause of Thomsen disease (THD)
CC       [MIM:160800]; also known as autosomal dominant myotonia congenita
CC       (MCD). THD is characterized by skeletal muscle stiffness (delayed
CC       relaxation), due to membrane hyperexcitability. A variant form of
CC       Thomsen disease is myotonia levior that is characterized by milder
CC       symptoms, later onset and absence of muscle hypo- and hypertrophy.
CC   -!- DISEASE: Defects in CLCN1 are the cause of autosomal recessive
CC       myotonia congenita (MCR) [MIM:255700]; also known as Becker
CC       disease.
CC   -!- MISCELLANEOUS: The CLC channel family contains both chloride
CC       channels and proton-coupled anion transporters that exchange
CC       chloride or another anion for protons. The absence of conserved
CC       gating glutamate residues is typical for family members that
CC       function as channels.
CC   -!- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family.
CC       ClC-1/CLCN1 subfamily.
CC   -!- SIMILARITY: Contains 2 CBS domains.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN1";
CC   -!- GENE_FAMILY: HOG000231297 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000188037;ENST00000343257;ENSP00000339867.
DR   EMBL; AC093673; - ;
DR   EMBL; BC112156; - ;
DR   EMBL; BC113495; - ;
DR   EMBL; CH236959; - ;
DR   EMBL; L08261; - ;
DR   EMBL; L08262; - ;
DR   EMBL; L08263; - ;
DR   EMBL; L08264; - ;
DR   EMBL; L08265; - ;
DR   EMBL; M97820; - ;
DR   EMBL; Z25587; - ;
DR   EMBL; Z25752; - ;
DR   EMBL; Z25753; - ;
DR   EMBL; Z25754; - ;
DR   EMBL; Z25755; - ;
DR   EMBL; Z25756; - ;
DR   EMBL; Z25757; - ;
DR   EMBL; Z25758; - ;
DR   EMBL; Z25759; - ;
DR   EMBL; Z25760; - ;
DR   EMBL; Z25761; - ;
DR   EMBL; Z25762; - ;
DR   EMBL; Z25763; - ;
DR   EMBL; Z25764; - ;
DR   EMBL; Z25765; - ;
DR   EMBL; Z25766; - ;
DR   EMBL; Z25767; - ;
DR   EMBL; Z25768; - ;
DR   EMBL; Z25872; - ;
DR   EMBL; Z25884; - ;
DR   UniProtKB/Swiss-Prot; P35523; A4D2H5; Q2M202; -.
DR   EMBL; Z25587; CAA80996.1; -; Genomic_DNA.
DR   EMBL; Z25884; CAA81103.1; -; mRNA.
DR   EMBL; CH236959; EAL23786.1; -; Genomic_DNA.
DR   EMBL; BC112156; AAI12157.1; -; mRNA.
DR   EMBL; BC113495; AAI13496.1; -; mRNA.
DR   EMBL; M97820; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; L08261; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L08262; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L08263; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L08264; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; L08265; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; Z25753; CAB56792.1; -; Genomic_DNA.
DR   EMBL; Z25754; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25755; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25756; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25757; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25758; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25759; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25760; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25761; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25762; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25763; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25764; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25765; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25766; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25767; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25752; CAB56792.1; JOINED; Genomic_DNA.
DR   EMBL; Z25768; CAB56814.1; -; Genomic_DNA.
DR   EMBL; Z25872; CAB56814.1; JOINED; Genomic_DNA.
DR   IPI; IPI00293558; -.
DR   PIR; S37078; S37078.
DR   RefSeq; NP_000074.2; NM_000083.2.
DR   UniGene; Hs.121483; -.
DR   ProteinModelPortal; P35523; -.
DR   SMR; P35523; 114-872.
DR   STRING; P35523; -.
DR   TCDB; 2.A.49.2.1; chloride carrier/channel (ClC) family.
DR   PhosphoSite; P35523; -.
DR   PRIDE; P35523; -.
DR   Ensembl; ENST00000343257; ENSP00000339867; ENSG00000188037.
DR   GeneID; 1180; -.
DR   KEGG; hsa:1180; -.
DR   CTD; 1180; -.
DR   GeneCards; GC07P137350; -.
DR   H-InvDB; HIX0033595; -.
DR   HGNC; HGNC:2019; CLCN1.
DR   MIM; 118425; gene.
DR   MIM; 160800; phenotype.
DR   MIM; 255700; phenotype.
DR   neXtProt; NX_P35523; -.
DR   Orphanet; 614; Thomsen and Becker disease.
DR   PharmGKB; PA26546; -.
DR   eggNOG; prNOG05438; -.
DR   InParanoid; P35523; -.
DR   OMA; FQSLLHC; -.
DR   OrthoDB; EOG4VT5WG; -.
DR   ArrayExpress; P35523; -.
DR   Bgee; P35523; -.
DR   CleanEx; HS_CLCN1; -.
DR   Genevestigator; P35523; -.
DR   GermOnline; ENSG00000188037; Homo sapiens.
DR   GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0005247; F:voltage-gated chloride channel activity; TAS:ProtInc.
DR   GO; GO:0006936; P:muscle contraction; TAS:ProtInc.
DR   InterPro; IPR014743; Cl-channel_core.
DR   InterPro; IPR001807; Cl-channel_volt-gated.
DR   InterPro; IPR002243; Cl_channel-1.
DR   InterPro; IPR000644; Cysta_beta_synth_core.
DR   Gene3D; G3DSA:1.10.3080.10; Cl-channel_core; 1.
DR   PANTHER; PTHR11689; Cl-channel_volt; 1.
DR   Pfam; PF00571; CBS; 1.
DR   Pfam; PF00654; Voltage_CLC; 1.
DR   PRINTS; PR00762; CLCHANNEL.
DR   PRINTS; PR01112; CLCHANNEL1.
DR   SUPFAM; SSF81340; Cl-channel_core; 1.
DR   PROSITE; PS51371; CBS; 2.
DR   HOGENOMDNA; HS7.PE4249; -.
KW   ENSG000001880371755old_1320000031; ENSP000003398677901old_1320000031;
KW   Q75L28_HUMAN; AC093673; BC112156; BC113495; CH236959; L08261; L08262;
KW   L08264; L08265; M97820; Z25587; Z25752; Z25753; Z25754; Z25755; Z25756;
KW   Z25758; Z25759; Z25760; Z25761; Z25762; Z25763; Z25764; Z25765; Z25766;
KW   Z25768; Z25872; Z25884;
KW   CBS domain; Chloride; Chloride channel; Complete proteome;
KW   Disease mutation; Ion transport; Ionic channel; Membrane;
KW   Polymorphism; Reference proteome; Repeat; Transmembrane;
KW   Transmembrane helix; Transport; Voltage-gated channel.
SQ   SEQUENCE   988 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA GPRHNVHPTQ
     IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ DCIHRLGQVV RRKLGEDGIF
     LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY AQMQPSLPLQ FLVWVTFPLV LILFSALFCH
     LISPQAVGSG IPEMKTILRG VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS
     ICAAVLSKFM SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR
     NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAAIGICCGL
     LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV IASFTFPPGM GQFMAGELMP
     REAISTLFDN NTWVKHAGDP ESLGQSAVWI HPRVNVVIII FLFFVMKFWM SIVATTMPIP
     CGGFMPVFVL GAAFGRLVGE IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV
     STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK
     YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG SVERSELQAL
     LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA PPGRPESFAF VDEDEDEDLS
     GKSELPPSLA LHPSTTAPLS PEEPNGPLPG HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR
     PTKKKTTQDS TDLVDNMSPE EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL
     FSLLGLHLAY VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP
     PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE LEELELVESP
     GLEEELADIL QGPSLRSTDE EDEDELIL
//

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