KCNJ1

GENE INFORMATION

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Gene name

KCNJ1 (HGNC Symbol)

Synonyms

Kir1.1, ROMK1

Description

potassium inwardly-rectifying channel, subfamily J, member 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

11 (Chromosome progress)

Cytoband

q24.3

Chromosome location (bp)

128706210 - 128737268

Ensembl

ENSG00000151704 (version 73.37)

Entrez gene

3758

UniProt

P48048 (UniProt - Evidence at protein level)

neXtProt

NX_P48048

Antibodypedia

KCNJ1 antibodies
 

PROTEIN VIEW

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KCNJ1-001
 
KCNJ1-002
 
KCNJ1-003
 
KCNJ1-004
 
KCNJ1-005
 
KCNJ1-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNJ1-001 ENSP00000316233
ENST00000324036
P48048
Show all »
Show » Show » 372 42.7 No 2
KCNJ1-002 ENSP00000316136
ENST00000324003
P48048
Show all »
Show » Show » 139 16.3 No 1
KCNJ1-003 ENSP00000406320
ENST00000440599
P48048
Show all »
Show » Show » 372 42.7 No 2
KCNJ1-004 ENSP00000376432
ENST00000392664
P48048
Show all »
Show » Show » 391 44.8 No 2
KCNJ1-005 ENSP00000376433
ENST00000392665
P48048
Show all »
Show » Show » 372 42.7 No 2
KCNJ1-201 ENSP00000376434
ENST00000392666
P48048
Show all »
Show » Show » 372 42.7 No 2