KCNJ1

GENERAL INFORMATION

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Gene name

KCNJ1

Gene description

Potassium inwardly-rectifying channel, subfamily J, member 1

Protein class

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

Predicted localization

Membrane

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Membranous expression in renal tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 1 antibody.
HPA026962
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



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

Cytoband

q24.3

Chromosome location (bp)

128836315 - 128867373

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000151704 (version 78.38)

Entrez gene

3758

UniProt

P48048 (UniProt - Evidence at protein level)

neXtProt

NX_P48048

Antibodypedia

KCNJ1 antibodies


PROTEIN BROWSER

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ENST00000324003
 
ENST00000324036
 
ENST00000392664
 
ENST00000392665
 
ENST00000392666
 
ENST00000440599
 
 
 
 


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