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FLASH GENE

Symbol

KCNJ1

contributors: mct - updated : 30-08-2011

HGNC name	potassium inwardly-rectifying channel, subfamily J, member 1
HGNC id	6255

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BSND2 Bartter syndrome antenatal type 2
Location	11q25      Physical location : 128.707.914 - 128.737.268
Synonym name	renal outer-medullary K+ channel
Synonym symbol(s)	ROMK1, Kir1.1, ROMK, ROMK2

DNA

TYPE	functioning gene
STRUCTURE	29.35 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000220 3 splicing 2332 41.6 391 - 1994 7929082 ROMK1 (1C) additional 5'exon(s) NM_153764 2 splicing 2446 - 372 kidney 1994 7929082 ROMK2 (1B) transcript from the 3' exon NM_153766 2 - 2616 - 372 kidney 1994 7929082 ROMK4 transcript from the 3' exon NM_153767 4 - 2749 - 372 kidney 1994 7929082 ROMK5 additional 5' exons NM_153765 3 - 2579 - 372 kidney and other tissues 1994 7929082 ROMK3 (1A) additional 5' exons

EXPRESSION

Type	restricted

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 Digestive mouth tongue       Endocrine thyroid         Respiratory respiratory tract trachea       Urinary kidney       highly

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	two membrane-spanning domains
	an amphipatic region pore, including the P domain with the K+ channel
	an ATP-binding regulatory domain

mono polymer

homomer , tetramer

HOMOLOGY

Homologene

FAMILY

potassium channel subfamily J

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	in the apical membrane of the thick ascending limb and of the cortical collecting duct

basic FUNCTION	potassium voltage-gated channel, inwardly rectifying, regulating SLC12A1 functioning
	plays a critical role in renal sodium handling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	ion transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	bound directly to the clathrin adaptor molecule autosomal recessive hypercholesterolemia (LDLRAP1) (LDLRAP1 marks KCNJ1 for clathrin-dependent endocytosis, in concert with the demands of potassium homeostasis)
	interaction with KLOtho
	interacting with SH3RF1 (SH3RF1 stimulates the ubiquitination of KCNJ1 and enhances the internalization of this potassium channel)
	UMOD is a potential interaction partner of the renal outer medullary potassium channel KCNJ1, a key player in the process of salt reabsorption along the thick ascending limb

cell & other

REGULATION

inhibited by	PRKWNK4 (mediated by clathrin -dependent endocytosis )
	PI3K-activating hormones which inhibit KCNJ1 by enhancing its endocytosis via a mechanism that involves phosphorylation of WNK1 by AKT1 and SGK1
	SH3RF1 (inhibits KCNJ1 channels by enhancing dynamin-dependent and clathrin-independent endocytosis and by stimulating ubiquitination of KCNJ1 channels)

Other	ATP-regulated
	regulated by monoubiquitination
	exquisitely regulated to adjust renal potassium excretion and maintain potassium balance

ASSOCIATED DISORDERS

corresponding disease(s)

BSND2

Susceptibility

to resistant hypertension

Variant & Polymorphism other	loss-of-function polymorphisms inhibit KCNJ1 channel function by different mechanisms, providing new insights into the role of the channel in the maintenance of blood pressure

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS