Tissue expression of KCNJ1 - Summary - The Human Protein Atlas

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KCNJ1

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TISSUE

CELL

CANCER

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	KCNJ1
Gene description	Potassium channel, inwardly rectifying 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

RNA tissue category

HPA:	Tissue enriched (kidney)
GTEx:	Tissue enriched (kidney)
FANTOM5:	Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein expression

Membranous expression in renal tubules.

DATA RELIABILITY
Data reliability description	Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.
Reliability score	Supported based on 1 antibody. HPA026962
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (kidney)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (kidney)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (kidney)

GENE INFORMATION
Gene name	KCNJ1 (HGNC Symbol)
Synonyms	Kir1.1, ROMK1
Description	Potassium channel, inwardly rectifying 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 83.38)
Entrez gene	3758
UniProt	P48048 (UniProt - Evidence at protein level)
neXtProt	NX_P48048
Antibodypedia	KCNJ1 antibodies

PROTEIN BROWSER

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

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
KCNJ1-001 ENSP00000316233 ENST00000324036	P48048 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 A0A024R3K6 [Target identity:100%; Query identity:100%] Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a Show all	Transporters Transporter channels and pores Voltage-gated ion channels Inwardly Rectifying Potassium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005242 [inward rectifier potassium channel activity] GO:0005524 [ATP binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0007268 [synaptic transmission] GO:0007588 [excretion] GO:0008076 [voltage-gated potassium channel complex] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0034765 [regulation of ion transmembrane transport] Show all	372 aa 42.7 kDa	No	2
KCNJ1-002 ENSP00000316136 ENST00000324003	A0A0C4DFP9 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Show all	GO:0005242 [inward rectifier potassium channel activity] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0034765 [regulation of ion transmembrane transport] Show all	139 aa 16.3 kDa	No	1
KCNJ1-003 ENSP00000406320 ENST00000440599	P48048 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 A0A024R3K6 [Target identity:100%; Query identity:100%] Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a Show all	Transporters Transporter channels and pores Voltage-gated ion channels Inwardly Rectifying Potassium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005242 [inward rectifier potassium channel activity] GO:0005524 [ATP binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0007268 [synaptic transmission] GO:0007588 [excretion] GO:0008076 [voltage-gated potassium channel complex] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0034765 [regulation of ion transmembrane transport] Show all	372 aa 42.7 kDa	No	2
KCNJ1-004 ENSP00000376432 ENST00000392664	P48048 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 Show all	Transporters Transporter channels and pores Voltage-gated ion channels Inwardly Rectifying Potassium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0001822 [kidney development] GO:0001894 [tissue homeostasis] GO:0005242 [inward rectifier potassium channel activity] GO:0005524 [ATP binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0007268 [synaptic transmission] GO:0007588 [excretion] GO:0008076 [voltage-gated potassium channel complex] GO:0009791 [post-embryonic development] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0030955 [potassium ion binding] GO:0034765 [regulation of ion transmembrane transport] GO:0035864 [response to potassium ion] GO:0042277 [peptide binding] GO:0043066 [negative regulation of apoptotic process] GO:0070294 [renal sodium ion absorption] GO:0071286 [cellular response to magnesium ion] GO:0072358 [cardiovascular system development] GO:1900128 [regulation of G-protein activated inward rectifier potassium channel activity] Show all	391 aa 44.8 kDa	No	2
KCNJ1-005 ENSP00000376433 ENST00000392665	P48048 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 A0A024R3K6 [Target identity:100%; Query identity:100%] Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a Show all	Transporters Transporter channels and pores Voltage-gated ion channels Inwardly Rectifying Potassium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005242 [inward rectifier potassium channel activity] GO:0005524 [ATP binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0007268 [synaptic transmission] GO:0007588 [excretion] GO:0008076 [voltage-gated potassium channel complex] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0034765 [regulation of ion transmembrane transport] Show all	372 aa 42.7 kDa	No	2
KCNJ1-201 ENSP00000376434 ENST00000392666	P48048 [Direct mapping] ATP-sensitive inward rectifier potassium channel 1 A0A024R3K6 [Target identity:100%; Query identity:100%] Potassium inwardly-rectifying channel, subfamily J, member 1, isoform CRA_a Show all	Transporters Transporter channels and pores Voltage-gated ion channels Inwardly Rectifying Potassium Channels Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Show all	GO:0005242 [inward rectifier potassium channel activity] GO:0005524 [ATP binding] GO:0005546 [phosphatidylinositol-4,5-bisphosphate binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006813 [potassium ion transport] GO:0007268 [synaptic transmission] GO:0007588 [excretion] GO:0008076 [voltage-gated potassium channel complex] GO:0010107 [potassium ion import] GO:0015272 [ATP-activated inward rectifier potassium channel activity] GO:0016021 [integral component of membrane] GO:0034765 [regulation of ion transmembrane transport] Show all	372 aa 42.7 kDa	No	2

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.