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FLASH GENE

Symbol

SLC12A4

contributors: mct/npt - updated : 06-01-2010

HGNC name	solute carrier family 12 (potassium/chloride transporters), member 4
HGNC id	10913

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q22.1      Physical location : 67.977.376 - 68.002.597
Synonym name	electroneutral potassium-chloride cotransporter 1
	erythroid K-Cl cotransporter 1
	K-Cl cotransporter
Synonym symbol(s)	KCC1, FLJ17069, FLJ40489

DNA

TYPE	functioning gene
STRUCTURE	24.30 kb     24 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	an initiator element (InR) and a downstream promoter element (DPE)
	functional AP-2 and Sp1 sites , regulating the promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001145961 - splicing 4755 NP_001139433 - 1079 - - NM_001145962 - splicing 4678 NP_001139434 - 1087 - - NM_001145963 - splicing 4652 NP_001139435 - 1079 - - NM_001145964 - splicing 4643 NP_001139436 - 1054 - - NM_005072 24 - 4773 NP_005063 - 1085 - -

EXPRESSION

Type	ubiquitous

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune spleen       highly Nervous brain       moderately Reproductive male system prostate     moderately Respiratory lung       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	twelve transmembrane segments
	a large extracellular loop
	potential N glycosylation sites
	cytoplasmic N and C terminal domains

conjugated

GlycoP

mono polymer

homomer , heteromer , oligo

HOMOLOGY

interspecies	ortholog to murine Slc12a4
	homolog to rattus Slc12a4
	homolog to C.elegans H16O14.1
	homolog to xenopus Xl.2355

intraspecies	homolog to NKCC1
	homolog to SLC12A3

Homologene

FAMILY

SLC12A transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	mediating electroneutral potassium-chloride cotransport when activated by cell swelling
	contributing to cell volume homeostasis in single cells
	involved in the regulation of basolateral Cl(-) exit in NaCl absorbing epithelia
	maybe involved in erythroid maturation
	may be a modifier gene in sickle cell disease
	regulate epithelial ion transport and osmotic homeostasis (Hsu 2007)
	its activity appears to contribute to erythroid cell growth during late erythropoiesis (De Franceschi 2007)
	playing a role in corneal epithelial cells in
	maintaining isotonic steady-state cell volume homeostasis, in recovery of isotonic cell volume after a hypotonic challenge through RVD, and in regulating hypotonicity-induced activation of the p44/42MAPK signaling pathway required for cell proliferation (Capó-Aponte 2007)
	play an important role in the maintenance of cellular homeostasis (Adragna 2007)

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

active transport

text	amino acid transport
	potassium ion transport

PATHWAY

metabolism

signaling

a component

homomultimer and heteromultimer with other K-Cl cotransporters

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS