KCNJ1

Protein identityUniProt · HPA

UniProt accession

P48048

Gene

KCNJ1

Ensembl

ENSG00000151704

Chromosome

11

Canonical length

391 aa

Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Transporters, Voltage-gated ion channels

OverviewNCBI Gene

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

391 residues, UniProt reviewed canonical sequence.

>P48048|KCNJ1
     1  MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN IEFGNVEAQS
    61  RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY AVAYIHKDLP EFHPSANHTP
   121  CVENINGLTS AFLFSLETQV TIGYGFRCVT EQCATAIFLL IFQSILGVII NSFMCGAILA
   181  KISRPKKRAK TITFSKNAVI SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE
   241  TIILDQININ FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT
   301  VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV ETPHCAMCLY
   361  NEKDVRARMK RGYDNPNFIL SEVNETDDTK M

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCNJ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

185 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCNJ1.

Disease | AllUniProt

Conditions KCNJ1 is implicated in, by any mechanism.

• Bartter syndrome 2, antenatal (BARTS2) MIM:241200

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 351 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bartter disease type 2
• Bartter syndrome
• Renal tubulopathies
• KCNJ1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.29

gnomAD pLI

0

gnomAD missense Z

-0.28

DepMap mean gene effect

0.17

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• circulatory system development
• gene expression
• kidney development
• monoatomic ion transport
• post-embryonic development
• potassium ion import across plasma membrane
• regulation of monoatomic ion transmembrane transport
• renal sodium ion absorption
• tissue homeostasis

Molecular functions

• ATP binding
• ATP-activated inward rectifier potassium channel activity
• inward rectifier potassium channel activity
• phosphatidylinositol-4,5-bisphosphate binding
• potassium channel activity

Cellular components

• cell surface
• monoatomic ion channel complex
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Potassium channel, inwardly rectifying, Kir, cytoplasmic
• Immunoglobulin E-set
• Potassium channel, inwardly rectifying, Kir
• Potassium channel, inwardly rectifying, transmembrane domain
• Inward rectifier potassium channel, C-terminal
• Inward rectifier potassium channel transmembrane domain
• Inward rectifier potassium channel C-terminal domain
• FPotassium channel, inwardly rectifying, Kir1.1

KeywordsUniProt

• ATP-binding
• Bartter syndrome
• Cell membrane
• Glycoprotein
• Ion channel
• Ion transport
• Membrane
• Nucleotide-binding
• Phosphoprotein
• Potassium
• Potassium transport
• Transmembrane
• Transmembrane helix
• Transport
• Voltage-gated channel

InteractionsUniProt · HPA

Protein binding partners of KCNJ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SGK1