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0S12A4_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameSLC12A4
DescriptionSolute carrier family 12 member 4 (electroneutral potassium-chloride cotransporter 1) (erythroid k-cl cotransporter 1) (hkcc1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005887 integral to plasma membrane (TAS)
0005624 membrane fraction (TAS)
0015379 chloride symporter activity (ISS)
0006873 cell ion homeostasis (ISS)
0008217 regulation of blood pressure (ISS)
0006884 regulation of cell volume (ISS)
0000074 regulation of progression through cell cycle (ISS)
0006810 transport (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains assigned to SynO:
The K-Cl co-transporter (KCC) mediates the coupled movement of K+ and Cl-ions across the plasma membrane of many animal cells. This transport isinvolved in the regulatory volume decrease in response to cell swelling inred blood cells.nd has been proposed to play a role in the vectorialmovement of Cl- across kidney epithelia. The transport process involves onefor one electroneutral movement of K+ together with Cl-.nd.n allknown mammalian cells.he net movement is outward .In neurones.t appears to play a unique role in maintaining lowintracellular Cl-concentration.hich is required for the functioning of Cl-dependent fast synaptic inhibition.ediated by certain neurotransmitters.uch as gamma-aminobutyric acid (GABA) and glycine.Two isoforms of the K-Cl co-transporter have been described.ermed KCC1 andKCC2.ontaining 1085 and 1116 amino acids.espectively. They are bothpredicted to have 12 transmembrane (TM) regions in a central hydrophobicdomain.ogether with hydrophilic N- and C-termini that are likelycytoplasmic. Comparison of their sequences with those of otherion-transporting membrane proteins reveals that they are part of a newsuperfamily of cation-chloride co-transporters.hich includes the Na-Cl andNa-K-2Cl co-transporters. KCC1 is widely expressed in human tissues.hileKCC2 is expressed only in brain neurones.aking it likely that this is theisoform responsible for maintaining low Cl- concentration in neurones .
  IPR000076:K-Cl co-transporter
InterPro domains unassigned to SynO:
Amino acid permeases are integral membrane proteins involved in the transport of amino acids into the cell. A number of such proteins have been found to be evolutionary related . These proteins seem to contain up to 12 transmembrane segments. The best conserved region in this family is located in the second transmembrane segment.This domain is found in a wide variety of permeases.s well as several hypothetical proteins.
  IPR004841:Amino acid permease-associated region
The K-Cl co-transporter (KCC) mediates the coupled movement of K+ and Cl-ions across the plasma membrane of many animal cells. This transport isinvolved in the regulatory volume decrease in response to cell swelling inred blood cells.nd has been proposed to play a role in the vectorialmovement of Cl- across kidney epithelia. The transport process involves onefor one electroneutral movement of K+ together with Cl-.nd.n allknown mammalian cells.he net movement is outward .In neurones.t appears to play a unique role in maintaining lowintracellular Cl-concentration.hich is required for the functioning of Cl-dependent fast synaptic inhibition.ediated by certain neurotransmitters.uch as gamma-aminobutyric acid (GABA) and glycine.Two isoforms of the K-Cl co-transporter have been described.ermed KCC1 andKCC2.ontaining 1085 and 1116 amino acids.espectively. They are bothpredicted to have 12 transmembrane (TM) regions in a central hydrophobicdomain.ogether with hydrophilic N- and C-termini that are likelycytoplasmic. Comparison of their sequences with those of otherion-tranporting membrane proteins reveals that they are part of a newsuperfamily of cation-chloride co-transporters.hich includes the Na-Cl andNa-K-2Cl co-transporters. KCC1 is widely expressed in human tissues.hileKCC2 is expressed only in brain neurones.aking it likely that this is theisoform responsible for maintaining low Cl- concentration in neurones .KCC1 is widely expressed in human tissues.nd when heterologously expressed.ossesses the functional characteristics of the well-studied red blood cellK-Cl co-transporter.ncluding stimulation by both swelling andN-ethylmaleimide. Several splice variants have also been identified.
  IPR000622:K-Cl Co-transporter, type 1
This is a family of K-Cl cotransporters. It includes bumetanide-sensitive sodium-(potassium)-chloride cotransporter.n electrically silent transporter system which is a mediator of sodium and chloride reabsorption. It plays a vital role in the regulation of ionic balance and cell volume. Bumetanide-sensitive sodium-(potassium)-chloride cotransporter belongs to the SLC12A family of transporters.
  IPR004842:Na-K-Cl cotransporter superfamily
IPR004841:AA_permease 
Evalue:-32.3187599182129 
Location:123-696IPR000622:KCl_Cotrans_1 
Evalue:-15.3979396820068 
Location:953-982IPR000622:KCLTRNSPORT1 
Evalue:0 
Location:1-14IPR000076:KCLTRNSPORT 
Evalue:0 
Location:64-72IPR000622:KCLTRNSPORT1 
Evalue:0 
Location:35-42IPR000076:KCLTRNSPORT 
Evalue:0 
Location:44-50
SequencesProtein: S12A4_HUMAN (1085 aa)
mRNA: AF054505 AF054506 NM_005072
Local Annotation
Synapse Ontology
all kinds of ion channels that play their roles in the synaptic activity.
sdb:0308 ion channels and receptors  (Evidence:domains)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 202 residues, 66535730-66536335Exon2: 46 residues, 66536490-66536624Exon3: 63 residues, 66536772-66536957Exon4: 38 residues, 66537167-66537275Exon5: 46 residues, 66537354-66537486Exon6: 58 residues, 66537574-66537744Exon7: 67 residues, 66537841-66538037Exon8: 58 residues, 66538340-66538509Exon9: 37 residues, 66538734-66538839Exon10: 42 residues, 66539072-66539192Exon11: 35 residues, 66539464-66539563Exon12: 41 residues, 66541203-66541322Exon13: 60 residues, 66541722-66541897Exon14: 21 residues, 66542057-66542115Exon15: 35 residues, 66542365-66542464Exon16: 57 residues, 66542543-66542708Exon17: 73 residues, 66543226-66543441Exon18: 82 residues, 66543587-66543829Exon19: 45 residues, 66546046-66546177Exon20: 20 residues, 66549145-66549200Exon21: 51 residues, 66549301-66549448Exon22: 46 residues, 66552978-66553110Exon23: 33 residues, 66554868-66554963Exon24: 63 residues, 66559842-66560026Exon25: 2 residues, -Jump to S12A4_HUMANExon1: 246 residues, 66535888-66536624Exon2: 63 residues, 66536772-66536957Exon3: 38 residues, 66537167-66537275Exon4: 46 residues, 66537354-66537486Exon5: 58 residues, 66537574-66537744Exon6: 67 residues, 66537841-66538037Exon7: 58 residues, 66538340-66538509Exon8: 37 residues, 66538734-66538839Exon9: 42 residues, 66539072-66539192Exon10: 35 residues, 66539464-66539563Exon11: 41 residues, 66541203-66541322Exon12: 60 residues, 66541722-66541897Exon13: 21 residues, 66542057-66542115Exon14: 35 residues, 66542365-66542464Exon15: 57 residues, 66542543-66542708Exon16: 73 residues, 66543226-66543441Exon17: 82 residues, 66543587-66543829Exon18: 45 residues, 66546046-66546177Exon19: 20 residues, 66549145-66549200Exon20: 51 residues, 66549301-66549448Exon21: 46 residues, 66552978-66553110Exon22: 33 residues, 66554868-66554963Exon23: 40 residues, 66559842-66559957Exon24: 2 residues, -Jump to S12A4_HUMANExon1: 150 residues, 66535888-66536335Exon2: 157 residues, 66536490-66536957Exon3: 38 residues, 66537167-66537275Exon4: 46 residues, 66537354-66537486Exon5: 58 residues, 66537574-66537744Exon6: 67 residues, 66537841-66538037Exon7: 58 residues, 66538340-66538509Exon8: 37 residues, 66538734-66538839Exon9: 42 residues, 66539072-66539192Exon10: 35 residues, 66539464-66539563Exon11: 41 residues, 66541203-66541322Exon12: 60 residues, 66541722-66541897Exon13: 21 residues, 66542057-66542115Exon14: 35 residues, 66542365-66542464Exon15: 57 residues, 66542543-66542708Exon16: 73 residues, 66543226-66543441Exon17: 82 residues, 66543587-66543829Exon18: 45 residues, 66546046-66546177Exon19: 20 residues, 66549145-66549200Exon20: 51 residues, 66549301-66549448Exon21: 46 residues, 66552978-66553110Exon22: 33 residues, 66554868-66554963Exon23: 40 residues, 66559842-66559957Exon24: 2 residues, -Jump to S12A4_HUMAN  
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Loci Cluster (Details)Loci: 2945 65471936-65479356 ~-7K 14263(PDP2)(+)Loci: 4230 65513089-65516920 ~-4K 14266(RRAD)(-)Loci: 4231 65767007-65774977 ~-8K 14287(-)Loci: 2946 66153964-66230588 ~-77K 14315(CTCF)(+)Loci: 2947 66252351-66254181 ~-2K 14321(PARD6A)(+)Loci: 4232 66531287-66535516 ~-4K 14345(LCAT)(-)Loci: 4233 66535730-66560026 ~-24K 14346(SLC12A4)(-)Loci: 4229 65102150-65141816 ~-40K 14239(TK2)(-)Link out to UCSC