(data stored in ACNUC15468 zone)

HOGENOM: HS1_PE880

ID   HS1_PE880                            STANDARD;      PRT;   687 AA.
AC   HS1_PE880; P51801; Q5T5Q8;
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 ClC-Kb; Short=Chloride channel
DE   Kb;AltName: Full=ClC-K2; (HS1.PE880).
GN   Name=CLCNKB;
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 HS1.PE880.
CC       Homo sapiens chromosome 1 GRCh37  sequence 1..249240621 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:CLCKB_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. May be important in urinary
CC       concentrating mechanisms.
CC   -!- SUBUNIT: Interacts with BSND. Forms heteromers with BSND in the
CC       thick ascending limb of Henle and more distal segments (By
CC       similarity).
CC   -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC   -!- TISSUE SPECIFICITY: Expressed predominantly in the kidney.
CC   -!- DISEASE: Defects in CLCNKB are the cause of Bartter syndrome type
CC       3 (BS3) [MIM:607364]; also known as classic Bartter syndrome. It
CC       is an autosomal recessive form of often severe intravascular
CC       volume depletion due to renal salt-wasting associated with low
CC       blood pressure, hypokalemic alkalosis, hypercalciuria, and normal
CC       serum magnesium levels.
CC   -!- DISEASE: Defects in CLCNKB are a cause of Bartter syndrome type 4B
CC       (BS4B) [MIM:613090]. A digenic, recessive disorder characterized
CC       by impaired salt reabsorption in the thick ascending loop of Henle
CC       with pronounced salt wasting, hypokalemic metabolic alkalosis, and
CC       varying degrees of hypercalciuria. Bartter syndrome type 4B is
CC       associated with sensorineural deafness.
CC   -!- MISCELLANEOUS: Compared with CLCNKA/BSND, CLCNKB/BSND is more
CC       sensitive to pH and less responsive to Ca(2+).
CC   -!- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family.
CC       CLCNKB subfamily.
CC   -!- SIMILARITY: Contains 2 CBS domains.
CC   -!- GENE_FAMILY: HOG000231297 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000184908;ENST00000375679;ENSP00000364831.
DR   EMBL; AK292335; - ;
DR   EMBL; AL355994; - ;
DR   EMBL; S80315; - ;
DR   EMBL; U93879; - ;
DR   EMBL; Z30644; - ;
DR   UniProtKB/Swiss-Prot; P51801; Q5T5Q8; -.
DR   EMBL; Z30644; CAA83121.1; -; mRNA.
DR   EMBL; S80315; AAB35898.1; -; mRNA.
DR   EMBL; AL355994; CAI16140.1; -; Genomic_DNA.
DR   EMBL; U93879; AAB65149.1; -; Genomic_DNA.
DR   IPI; IPI00020881; -.
DR   PIR; D57713; D57713.
DR   RefSeq; NP_000076.2; NM_000085.3.
DR   UniGene; Hs.352243; -.
DR   ProteinModelPortal; P51801; -.
DR   SMR; P51801; 48-687.
DR   STRING; P51801; -.
DR   PRIDE; P51801; -.
DR   Ensembl; ENST00000375679; ENSP00000364831; ENSG00000184908.
DR   GeneID; 1188; -.
DR   KEGG; hsa:1188; -.
DR   CTD; 1188; -.
DR   GeneCards; GC01P014888; -.
DR   H-InvDB; HIX0020336; -.
DR   HGNC; HGNC:2027; CLCNKB.
DR   MIM; 602023; gene.
DR   MIM; 607364; phenotype.
DR   MIM; 613090; phenotype.
DR   neXtProt; NX_P51801; -.
DR   Orphanet; 93605; Classic Bartter syndrome.
DR   Orphanet; 358; Gitelman syndrome.
DR   Orphanet; 89938; Infantile Bartter syndrome with deafness.
DR   eggNOG; prNOG17923; -.
DR   GeneTree; ENSGT00550000074179; -.
DR   InParanoid; P51801; -.
DR   OMA; VSCAYLF; -.
DR   OrthoDB; EOG4KD6KM; -.
DR   ArrayExpress; P51801; -.
DR   Bgee; P51801; -.
DR   CleanEx; HS_CLCNKB; -.
DR   Genevestigator; P51801; -.
DR   GermOnline; ENSG00000184908; 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:0007588; P:excretion; TAS:ProtInc.
DR   InterPro; IPR014743; Cl-channel_core.
DR   InterPro; IPR001807; Cl-channel_volt-gated.
DR   InterPro; IPR002250; Cl_channel-K.
DR   InterPro; IPR000644; Cysta_beta_synth_core.
DR   Gene3D; G3DSA:1.10.3080.10; Cl-channel_core; 2.
DR   PANTHER; PTHR11689; Cl-channel_volt; 1.
DR   Pfam; PF00571; CBS; 2.
DR   Pfam; PF00654; Voltage_CLC; 1.
DR   PRINTS; PR00762; CLCHANNEL.
DR   PRINTS; PR01119; CLCHANNELKDY.
DR   SMART; SM00116; CBS; 2.
DR   SUPFAM; SSF81340; Cl-channel_core; 1.
DR   PROSITE; PS51371; CBS; 2.
DR   HOGENOMDNA; HS1.PE880; -.
KW   ENSG000001849081755old_1320000031; ENSP000003648317901old_1320000031;
KW   A8K8H0_HUMAN; AK292335; AL355994; S80315; U93879; Z30644;
KW   Bartter syndrome; CBS domain; Cell membrane; Chloride;
KW   Chloride channel; Complete proteome; Deafness; Disease mutation;
KW   Glycoprotein; Ion transport; Ionic channel; Membrane; Polymorphism;
KW   Reference proteome; Repeat; Transmembrane; Transmembrane helix;
KW   Transport; Voltage-gated channel.
SQ   SEQUENCE   687 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MEEFVGLREG SSGNPVTLQE LWGPCPRIRR GIRGGLEWLK QKLFRLGEDW YFLMTLGVLM
     ALVSCAMDLA VESVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
     SGIPEVKTML AGVVLEDYLD IKNFGAKVVG LSCTLACGST LFLGKVGPFV HLSVMMAAYL
     GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVWDYWRGF
     FAATCGAFMF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG LCGILGSAYL
     FCQRIFFGFI RNNRFSSKLL ATSKPVYSAL ATLVLASITY PPSAGRFLAS RLSMKQHLDS
     LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
     MPAGYFMPIF VYGAAIGRLF GETLSFIFPE GIVAGGITNP IMPGGYALAG AAAFSGAVTH
     TISTALLAFE VTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTVIVKKLP YLPRILGRNI
     GSHRVRVEHF MNHSITTLAK DMPLEEVVKV VTSTDVAKYP LVESTESQIL VGIVRRAQLV
     QALKAEPPSW APGHQQCLQD ILAAGCPTEP VTLKLSPETS LHEAHNLFEL LNLHSLFVTS
     RGRAVGCVSW VEMKKAISNL TNPPAPK
//

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