• Gene id: 6560

Gene Summary

• Gene Symbol: SLC12A4   Gene   UCSC   Ensembl
• Aliases: CTC-479C5.17, KCC1, hKCC1
• Gene name: solute carrier family 12 member 4
• Alternate names: solute carrier family 12 member 4, electroneutral potassium-chloride cotransporter 1, erythroid K-Cl cotransporter 1, potassium/chloride cotransporter 1, solute carrier family 12 (potassium/chloride transporter), member 4, solute carrier family 12 (potassium/c,
• Gene location: 16q22.1 (67968693: 67943473)     Exons: 26     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript varian
• OMIM: 604119

Protein Summary

• Protein general information: Q9UP95  
  • Name: Solute carrier family 12 member 4 (Electroneutral potassium chloride cotransporter 1) (Erythroid K Cl cotransporter 1) (hKCC1)
  • Length: 1085  
  • Mass: 120650
  • Tissue specificity: Ubiquitous. Levels are much higher in erythrocytes from patients with Hb SC and Hb SS compared to normal AA erythrocytes. This may contribute to red blood cell dehydration and to the manifestation of sickle cell disease by increasing t
• Sequence:

  MPHFTVVPVDGPRRGDYDNLEGLSWVDYGERAELDDSDGHGNHRESSPFLSPLEASRGIDYYDRNLALFEEELDI
  RPKVSSLLGKLVSYTNLTQGAKEHEEAESGEGTRRRAAEAPSMGTLMGVYLPCLQNIFGVILFLRLTWMVGTAGV
  LQALLIVLICCCCTLLTAISMSAIATNGVVPAGGSYFMISRSLGPEFGGAVGLCFYLGTTFAAAMYILGAIEILL
  TYIAPPAAIFYPSGAHDTSNATLNNMRVYGTIFLTFMTLVVFVGVKYVNKFASLFLACVIISILSIYAGGIKSIF
  DPPVFPVCMLGNRTLSRDQFDICAKTAVVDNETVATQLWSFFCHSPNLTTDSCDPYFMLNNVTEIPGIPGAAAGV
  LQENLWSAYLEKGDIVEKHGLPSADAPSLKESLPLYVVADIATSFTVLVGIFFPSVTGIMAGSNRSGDLRDAQKS
  IPVGTILAIITTSLVYFSSVVLFGACIEGVVLRDKYGDGVSRNLVVGTLAWPSPWVIVIGSFFSTCGAGLQSLTG
  APRLLQAIAKDNIIPFLRVFGHGKVNGEPTWALLLTALIAELGILIASLDMVAPILSMFFLMCYLFVNLACAVQT
  LLRTPNWRPRFKYYHWALSFLGMSLCLALMFVSSWYYALVAMLIAGMIYKYIEYQGAEKEWGDGIRGLSLSAARY
  ALLRLEEGPPHTKNWRPQLLVLLKLDEDLHVKYPRLLTFASQLKAGKGLTIVGSVIQGSFLESYGEAQAAEQTIK
  NMMEIEKVKGFCQVVVASKVREGLAHLIQSCGLGGMRHNSVVLGWPYGWRQSEDPRAWKTFIDTVRCTTAAHLAL
  LVPKNIAFYPSNHERYLEGHIDVWWIVHDGGMLMLLPFLLRQHKVWRKCRMRIFTVAQMDDNSIQMKKDLAVFLY
  HLRLEAEVEVVEMHNSDISAYTYERTLMMEQRSQMLRQMRLTKTEREREAQLVKDRHSALRLESLYSDEEDESAV
  GADKIQMTWTRDKYMTETWDPSHAPDNFRELVHIKPDQSNVRRMHTAVKLNEVIVTRSHDARLVLLNMPGPPRNS
  EGDENYMEFLEVLTEGLERVLLVRGGGREVITIYS

• Structural information:
  • Interpro: IPR004841  IPR000622  IPR000076  IPR018491  IPR004842  
  • PDB: 6KKR 6KKT 6KKU
  • PDBsum: 6KKR 6KKT 6KKU
  • STRING: ENSP00000395983
• Other Databases: GeneCards:  SLC12A4  Malacards:  SLC12A4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008519	ammonium transmembrane transporter activity	ISS	molecular function
GO:0140157	ammonium import across plasma membrane	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0006884	cell volume homeostasis	IBA	biological process
GO:0007268	chemical synaptic transmission	IBA	biological process
GO:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0055064	chloride ion homeostasis	IBA	biological process
GO:0055075	potassium ion homeostasis	IBA	biological process
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0015379	potassium:chloride symporter activity	IEA	molecular function
GO:0022857	transmembrane transporter activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0015377	cation:chloride symporter activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015379	potassium:chloride symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0006884	cell volume homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0006811	ion transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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