(data stored in ACNUC15468 zone)

HOGENOM: HS1_PE877

ID   HS1_PE877                            STANDARD;      PRT;   687 AA.
AC   HS1_PE877; P51800; Q5T5P8; Q7Z6D1; Q86VT1;
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-Ka; Short=Chloride channel
DE   Ka;AltName: Full=ClC-K1; (HS1.PE877).
GN   Name=CLCNKA;
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.PE877.
CC       Homo sapiens chromosome 1 GRCh37  sequence 1..249240621 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:CLCKA_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       thin ascending limb of Henle (By similarity).
CC   -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC   -!- TISSUE SPECIFICITY: Expressed predominantly in the kidney. All
CC       nephron segments expressing BSND also express CLCNK proteins.
CC   -!- DISEASE: Defects in CLCNKA 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   -!- SIMILARITY: Belongs to the chloride channel (TC 2.A.49) family.
CC       CLCNKA subfamily.
CC   -!- SIMILARITY: Contains 2 CBS domains.
CC   -!- GENE_FAMILY: HOG000231297 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000186510;ENST00000331433;ENSP00000332771.
DR   EMBL; AK290814; - ;
DR   EMBL; AL355994; - ;
DR   EMBL; BC048282; - ;
DR   EMBL; BC053869; - ;
DR   EMBL; U93878; - ;
DR   EMBL; Z30643; - ;
DR   UniProtKB/Swiss-Prot; P51800; Q5T5P8; Q7Z6D1; Q86VT1; -.
DR   EMBL; Z30643; CAA83120.1; -; mRNA.
DR   EMBL; AL355994; CAI16137.1; -; Genomic_DNA.
DR   EMBL; BC048282; AAH48282.1; -; mRNA.
DR   EMBL; BC053869; AAH53869.1; -; mRNA.
DR   EMBL; U93878; AAB65148.1; -; Genomic_DNA.
DR   IPI; IPI00020879; -.
DR   PIR; C57713; C57713.
DR   RefSeq; NP_001036169.1; NM_001042704.1.
DR   RefSeq; NP_004061.3; NM_004070.3.
DR   UniGene; Hs.352243; -.
DR   UniGene; Hs.591533; -.
DR   PDB; 2PFI; X-ray; 1.60 A; A/B=533-687.
DR   PDBsum; 2PFI; -.
DR   ProteinModelPortal; P51800; -.
DR   SMR; P51800; 48-687.
DR   DIP; DIP-29432N; -.
DR   STRING; P51800; -.
DR   PRIDE; P51800; -.
DR   Ensembl; ENST00000331433; ENSP00000332771; ENSG00000186510.
DR   GeneID; 1187; -.
DR   KEGG; hsa:1187; -.
DR   UCSC; uc001axu.1; human.
DR   CTD; 1187; -.
DR   GeneCards; GC01P014867; -.
DR   H-InvDB; HIX0056769; -.
DR   HGNC; HGNC:2026; CLCNKA.
DR   MIM; 602024; gene.
DR   MIM; 613090; phenotype.
DR   neXtProt; NX_P51800; -.
DR   Orphanet; 89938; Infantile Bartter syndrome with deafness.
DR   PharmGKB; PA26553; -.
DR   eggNOG; prNOG17923; -.
DR   GeneTree; ENSGT00550000074179; -.
DR   InParanoid; P51800; -.
DR   OMA; TNRFSSK; -.
DR   PhylomeDB; P51800; -.
DR   DrugBank; DB04552; Niflumic Acid.
DR   NextBio; 4912; -.
DR   ArrayExpress; P51800; -.
DR   Bgee; P51800; -.
DR   CleanEx; HS_CLCNKA; -.
DR   Genevestigator; P51800; -.
DR   GermOnline; ENSG00000186510; 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; 1.
DR   SUPFAM; SSF81340; Cl-channel_core; 1.
DR   PROSITE; PS51371; CBS; 2.
DR   HOGENOMDNA; HS1.PE877; -.
KW   ENSG000001865101755old_1320000031; ENSP000003327717901old_1320000031;
KW   A8K449_HUMAN; AK290814; AL355994; BC048282; BC053869; U93878; Z30643;
KW   3D-structure; Bartter syndrome; CBS domain; Chloride;
KW   Chloride channel; Complete proteome; Deafness; Disease mutation;
KW   Ion transport; Ionic channel; Membrane; Phosphoprotein; Polymorphism;
KW   Reference proteome; Repeat; Transmembrane; Transmembrane helix;
KW   Transport; Voltage-gated channel.
SQ   SEQUENCE   687 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW YFLMTLGVLM
     ALVSYAMNFA IGCVVRAHQW LYREIGDSHL LRYLSWTVYP VALVSFSSGF SQSITPSSGG
     SGIPELKTML AGVILEDYLD IKNFGAKVVG LSCTLATGST LFLGKVGPFV HLSVMIAAYL
     GRVRTTTIGE PENKSKQNEM LVAAAAVGVA TVFAAPFSGV LFSIEVMSSH FSVRDYWRGF
     FAATCGAFIF RLLAVFNSEQ ETITSLYKTS FRVDVPFDLP EIFFFVALGG ICGVLSCAYL
     FCQRTFLSFI KTNRYSSKLL ATSKPVYSAL ATLLLASITY PPGVGHFLAS RLSMKQHLDS
     LFDNHSWALM TQNSSPPWPE ELDPQHLWWE WYHPRFTIFG TLAFFLVMKF WMLILATTIP
     MPAGYFMPIF ILGAAIGRLL GEALAVAFPE GIVTGGVTNP IMPGGYALAG AAAFSGAVTH
     TISTALLAFE LTGQIVHALP VLMAVLAANA IAQSCQPSFY DGTIIVKKLP YLPRILGRNI
     GSHHVRVEHF MNHSITTLAK DTPLEEVVKV VTSTDVTEYP LVESTESQIL VGIVQRAQLV
     QALQAEPPSR APGHQQCLQD ILARGCPTEP VTLTLFSETT LHQAQNLFKL LNLQSLFVTS
     RGRAVGCVSW VEMKKAISNL TNPPAPK
//

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