• Gene id: 1187

Gene Summary

• Gene Symbol: CLCNKA   Gene   UCSC   Ensembl
• Aliases: CLCK1, ClC-K1, hClC-Ka
• Gene name: chloride voltage-gated channel Ka
• Alternate names: chloride channel protein ClC-Ka, chloride channel Ka, chloride channel, kidney, A, chloride channel, voltage-sensitive Ka,
• Gene location: 1p36.13 (150408297: 150466421)     Exons: 6     NC_000003.12
• Gene summary(Entrez): This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabs
• OMIM: 602024

Protein Summary

• Protein general information: P51800  
  • Name: Chloride channel protein ClC Ka (Chloride channel Ka) (ClC K1)
  • Length: 687  
  • Mass: 75285
  • Tissue specificity: Expressed predominantly in the kidney. All nephron segments expressing BSND also express CLCNK proteins. {ECO
• Sequence:

  MEELVGLREGFSGDPVTLQELWGPCPHIRRAIQGGLEWLKQKVFRLGEDWYFLMTLGVLMALVSYAMNFAIGCVV
  RAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGGSGIPELKTMLAGVILEDYLDIKNFGAKVVG
  LSCTLATGSTLFLGKVGPFVHLSVMIAAYLGRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIE
  VMSSHFSVRDYWRGFFAATCGAFIFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGICGVLSCAYL
  FCQRTFLSFIKTNRYSSKLLATSKPVYSALATLLLASITYPPGVGHFLASRLSMKQHLDSLFDNHSWALMTQNSS
  PPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIPMPAGYFMPIFILGAAIGRLLGEALAVAFPE
  GIVTGGVTNPIMPGGYALAGAAAFSGAVTHTISTALLAFELTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTII
  VKKLPYLPRILGRNIGSHHVRVEHFMNHSITTLAKDTPLEEVVKVVTSTDVTEYPLVESTESQILVGIVQRAQLV
  QALQAEPPSRAPGHQQCLQDILARGCPTEPVTLTLFSETTLHQAQNLFKLLNLQSLFVTSRGRAVGCVSWVEMKK
  AISNLTNPPAPK

• Structural information:
  • Protein Domains: (551..60-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (626..68-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703"-)
  • Interpro: IPR000644  IPR014743  IPR001807  IPR002250  
  • Prosite: PS51371
  • PDB: 2PFI
  • PDBsum: 2PFI
  • DIP: 29432
  • STRING: ENSP00000332771
• Other Databases: GeneCards:  CLCNKA  Malacards:  CLCNKA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006821	chloride transport	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0005247	voltage-gated chloride channel activity	IBA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0034707	chloride channel complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005254	chloride channel activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0005247	voltage-gated chloride channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007588	excretion	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Bartter syndrome	KEGG:H00239
Bartter syndrome	KEGG:H00239
Sensorineural hearing loss	PMID:15044642
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray