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Protein

ATP-sensitive inward rectifier potassium channel 1

Gene

KCNJ1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium.

Enzyme regulationi

Inhibited by WNK3.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei171 – 1711Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi223 – 2308ATPSequence Analysis

GO - Molecular functioni

  1. ATP-activated inward rectifier potassium channel activity Source: GO_Central
  2. ATP binding Source: UniProtKB-KW
  3. inward rectifier potassium channel activity Source: ProtInc
  4. phosphatidylinositol-4,5-bisphosphate binding Source: BHF-UCL

GO - Biological processi

  1. cardiovascular system development Source: Ensembl
  2. excretion Source: ProtInc
  3. kidney development Source: Ensembl
  4. post-embryonic development Source: Ensembl
  5. potassium ion import Source: GO_Central
  6. potassium ion transport Source: ProtInc
  7. regulation of G-protein activated inward rectifier potassium channel activity Source: Ensembl
  8. regulation of ion transmembrane transport Source: GO_Central
  9. renal sodium ion absorption Source: Ensembl
  10. synaptic transmission Source: Reactome
  11. tissue homeostasis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding, Potassium

Enzyme and pathway databases

ReactomeiREACT_75815. Potassium transport channels.

Protein family/group databases

TCDBi1.A.2.1.1. inward rectifier k(+) channel (irk-c) family.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-sensitive inward rectifier potassium channel 1
Alternative name(s):
ATP-regulated potassium channel ROM-K
Inward rectifier K(+) channel Kir1.1
Potassium channel, inwardly rectifying subfamily J member 1
Gene namesi
Name:KCNJ1
Synonyms:ROMK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:6255. KCNJ1.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication
Note: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7777CytoplasmicBy similarityAdd
BLAST
Transmembranei78 – 10225Helical; Name=M1By similarityAdd
BLAST
Topological domaini103 – 12725ExtracellularBy similarityAdd
BLAST
Intramembranei128 – 13912Helical; Pore-forming; Name=H5By similarityAdd
BLAST
Intramembranei140 – 1467Pore-formingBy similarity
Topological domaini147 – 1559ExtracellularBy similarity
Transmembranei156 – 17722Helical; Name=M2By similarityAdd
BLAST
Topological domaini178 – 391214CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

  1. plasma membrane Source: Reactome
  2. voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Bartter syndrome 23 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. Bartter syndrome type 2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

See also OMIM:241200
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti72 – 721V → E in BS2. 1 Publication
VAR_001548
Natural varianti74 – 741D → Y in BS2. 1 Publication
VAR_001549
Natural varianti99 – 991W → C in BS2. 1 Publication
VAR_001550
Natural varianti108 – 1081D → H in BS2. 1 Publication
VAR_001551
Natural varianti110 – 1101P → L in BS2. 1 Publication
VAR_001552
Natural varianti122 – 1221V → E in BS2. 1 Publication
VAR_001553
Natural varianti124 – 1241N → K in BS2. 1 Publication
VAR_019724
Natural varianti167 – 1671G → E in BS2. 1 Publication
VAR_001554
Natural varianti198 – 1981A → T in BS2. 1 Publication
VAR_001555
Natural varianti214 – 2141A → V in BS2. 1 Publication
VAR_019725
Natural varianti219 – 2191S → R in BS2. 1 Publication
VAR_019726
Natural varianti315 – 3151V → G in BS2. 1 Publication
VAR_001556
Natural varianti357 – 3571M → T in BS2. 1 Publication
Corresponds to variant rs59172778 [ dbSNP | Ensembl ].
VAR_019727

Keywords - Diseasei

Bartter syndrome, Disease mutation

Organism-specific databases

MIMi241200. phenotype.
Orphaneti93604. Antenatal Bartter syndrome.
PharmGKBiPA213.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 391391ATP-sensitive inward rectifier potassium channel 1PRO_0000154917Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei44 – 441Phosphoserine; by SGK11 Publication
Glycosylationi117 – 1171N-linked (GlcNAc...)1 Publication

Post-translational modificationi

Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP48048.
PRIDEiP48048.

PTM databases

PhosphoSiteiP48048.

Expressioni

Tissue specificityi

In the kidney and pancreatic islets. Lower levels in skeletal muscle, pancreas, spleen, brain, heart and liver.1 Publication

Gene expression databases

BgeeiP48048.
CleanExiHS_KCNJ1.
ExpressionAtlasiP48048. baseline and differential.
GenevestigatoriP48048.

Organism-specific databases

HPAiHPA026962.

Interactioni

Subunit structurei

Interacts with SGK1 and SLC9A3R2/NHERF2.1 Publication

Protein-protein interaction databases

BioGridi109960. 6 interactions.
MINTiMINT-90062.
STRINGi9606.ENSP00000316136.

Structurei

3D structure databases

ProteinModelPortaliP48048.
SMRiP48048. Positions 39-356.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi141 – 1466Selectivity filterBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG247934.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP48048.
KOiK04995.
OMAiWYAVAYI.
OrthoDBiEOG7XPZ5K.
PhylomeDBiP48048.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003268. K_chnl_inward-rec_Kir1.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF6. PTHR11767:SF6. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01321. KIR11CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P48048-1) [UniParc]FASTAAdd to Basket

Also known as: ROM-K1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN
60 70 80 90 100
IEFGNVEAQS RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY
110 120 130 140 150
AVAYIHKDLP EFHPSANHTP CVENINGLTS AFLFSLETQV TIGYGFRCVT
160 170 180 190 200
EQCATAIFLL IFQSILGVII NSFMCGAILA KISRPKKRAK TITFSKNAVI
210 220 230 240 250
SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE TIILDQININ
260 270 280 290 300
FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT
310 320 330 340 350
VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV
360 370 380 390
ETPHCAMCLY NEKDVRARMK RGYDNPNFIL SEVNETDDTK M
Length:391
Mass (Da):44,795
Last modified:February 1, 1996 - v1
Checksum:iDF01C89B16BE6205
GO
Isoform 2 (identifier: P48048-2) [UniParc]FASTAAdd to Basket

Also known as: 2-4-5, ROM-K2, ROM-K4, ROM-K5, ROM-K6

The sequence of this isoform differs from the canonical sequence as follows:
     1-19: Missing.

Show »
Length:372
Mass (Da):42,660
Checksum:i31C776DE544EBC79
GO
Isoform 3 (identifier: P48048-3) [UniParc]FASTAAdd to Basket

Also known as: ROM-K3

The sequence of this isoform differs from the canonical sequence as follows:
     1-12: MNASSRNVFDTL → MPTVYLCSEQ

Show »
Length:389
Mass (Da):44,611
Checksum:i68BEB24F78327116
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61R → W.
Corresponds to variant rs34191956 [ dbSNP | Ensembl ].
VAR_049668
Natural varianti72 – 721V → E in BS2. 1 Publication
VAR_001548
Natural varianti74 – 741D → Y in BS2. 1 Publication
VAR_001549
Natural varianti99 – 991W → C in BS2. 1 Publication
VAR_001550
Natural varianti108 – 1081D → H in BS2. 1 Publication
VAR_001551
Natural varianti110 – 1101P → L in BS2. 1 Publication
VAR_001552
Natural varianti115 – 1151S → F in a breast cancer sample; somatic mutation. 1 Publication
VAR_036426
Natural varianti122 – 1221V → E in BS2. 1 Publication
VAR_001553
Natural varianti124 – 1241N → K in BS2. 1 Publication
VAR_019724
Natural varianti167 – 1671G → E in BS2. 1 Publication
VAR_001554
Natural varianti198 – 1981A → T in BS2. 1 Publication
VAR_001555
Natural varianti214 – 2141A → V in BS2. 1 Publication
VAR_019725
Natural varianti219 – 2191S → R in BS2. 1 Publication
VAR_019726
Natural varianti315 – 3151V → G in BS2. 1 Publication
VAR_001556
Natural varianti357 – 3571M → T in BS2. 1 Publication
Corresponds to variant rs59172778 [ dbSNP | Ensembl ].
VAR_019727

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1919Missing in isoform 2. CuratedVSP_002797Add
BLAST
Alternative sequencei1 – 1212MNASS…VFDTL → MPTVYLCSEQ in isoform 3. CuratedVSP_002798Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U12541 mRNA. Translation: AAA61712.1.
U12542 mRNA. Translation: AAA61713.1.
U12543 mRNA. Translation: AAA61714.1.
U12544 mRNA. Translation: AAA61715.1.
U12545 mRNA. Translation: AAA61716.1.
U03884 mRNA. Translation: AAA20594.1.
U65406 Genomic DNA. Translation: AAC51220.1.
U65406 Genomic DNA. Translation: AAC51221.1.
U65406 Genomic DNA. Translation: AAC51222.1.
CH471065 Genomic DNA. Translation: EAW67724.1.
BC074752 mRNA. Translation: AAH74752.1.
BC136360 mRNA. Translation: AAI36361.1.
BC136361 mRNA. Translation: AAI36362.1.
S78737 mRNA. Translation: AAB35012.1.
CCDSiCCDS8476.1. [P48048-1]
CCDS8477.1. [P48048-2]
PIRiA55119.
RefSeqiNP_000211.1. NM_000220.4. [P48048-1]
NP_722448.1. NM_153764.2. [P48048-2]
NP_722449.3. NM_153765.2. [P48048-3]
NP_722450.1. NM_153766.2. [P48048-2]
NP_722451.1. NM_153767.3. [P48048-2]
UniGeneiHs.527830.

Genome annotation databases

EnsembliENST00000324003; ENSP00000316136; ENSG00000151704.
ENST00000324036; ENSP00000316233; ENSG00000151704. [P48048-2]
ENST00000392664; ENSP00000376432; ENSG00000151704. [P48048-1]
ENST00000392665; ENSP00000376433; ENSG00000151704. [P48048-2]
ENST00000392666; ENSP00000376434; ENSG00000151704. [P48048-2]
ENST00000440599; ENSP00000406320; ENSG00000151704. [P48048-2]
GeneIDi3758.
KEGGihsa:3758.
UCSCiuc001qeo.2. human. [P48048-1]
uc001qeq.2. human. [P48048-3]

Polymorphism databases

DMDMi1352479.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U12541 mRNA. Translation: AAA61712.1.
U12542 mRNA. Translation: AAA61713.1.
U12543 mRNA. Translation: AAA61714.1.
U12544 mRNA. Translation: AAA61715.1.
U12545 mRNA. Translation: AAA61716.1.
U03884 mRNA. Translation: AAA20594.1.
U65406 Genomic DNA. Translation: AAC51220.1.
U65406 Genomic DNA. Translation: AAC51221.1.
U65406 Genomic DNA. Translation: AAC51222.1.
CH471065 Genomic DNA. Translation: EAW67724.1.
BC074752 mRNA. Translation: AAH74752.1.
BC136360 mRNA. Translation: AAI36361.1.
BC136361 mRNA. Translation: AAI36362.1.
S78737 mRNA. Translation: AAB35012.1.
CCDSiCCDS8476.1. [P48048-1]
CCDS8477.1. [P48048-2]
PIRiA55119.
RefSeqiNP_000211.1. NM_000220.4. [P48048-1]
NP_722448.1. NM_153764.2. [P48048-2]
NP_722449.3. NM_153765.2. [P48048-3]
NP_722450.1. NM_153766.2. [P48048-2]
NP_722451.1. NM_153767.3. [P48048-2]
UniGeneiHs.527830.

3D structure databases

ProteinModelPortaliP48048.
SMRiP48048. Positions 39-356.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109960. 6 interactions.
MINTiMINT-90062.
STRINGi9606.ENSP00000316136.

Chemistry

BindingDBiP48048.
ChEMBLiCHEMBL1293292.
DrugBankiDB00217. Bethanidine.
DB00222. Glimepiride.
DB01016. Glyburide.
DB01382. Glycodiazine.
DB00350. Minoxidil.
DB00839. Tolazamide.
DB01124. Tolbutamide.
DB01392. Yohimbine.
GuidetoPHARMACOLOGYi429.

Protein family/group databases

TCDBi1.A.2.1.1. inward rectifier k(+) channel (irk-c) family.

PTM databases

PhosphoSiteiP48048.

Polymorphism databases

DMDMi1352479.

Proteomic databases

PaxDbiP48048.
PRIDEiP48048.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324003; ENSP00000316136; ENSG00000151704.
ENST00000324036; ENSP00000316233; ENSG00000151704. [P48048-2]
ENST00000392664; ENSP00000376432; ENSG00000151704. [P48048-1]
ENST00000392665; ENSP00000376433; ENSG00000151704. [P48048-2]
ENST00000392666; ENSP00000376434; ENSG00000151704. [P48048-2]
ENST00000440599; ENSP00000406320; ENSG00000151704. [P48048-2]
GeneIDi3758.
KEGGihsa:3758.
UCSCiuc001qeo.2. human. [P48048-1]
uc001qeq.2. human. [P48048-3]

Organism-specific databases

CTDi3758.
GeneCardsiGC11M128706.
HGNCiHGNC:6255. KCNJ1.
HPAiHPA026962.
MIMi241200. phenotype.
600359. gene.
neXtProtiNX_P48048.
Orphaneti93604. Antenatal Bartter syndrome.
PharmGKBiPA213.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG247934.
GeneTreeiENSGT00760000118842.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP48048.
KOiK04995.
OMAiWYAVAYI.
OrthoDBiEOG7XPZ5K.
PhylomeDBiP48048.
TreeFamiTF313676.

Enzyme and pathway databases

ReactomeiREACT_75815. Potassium transport channels.

Miscellaneous databases

GeneWikiiROMK.
GenomeRNAii3758.
NextBioi14725.
PROiP48048.
SOURCEiSearch...

Gene expression databases

BgeeiP48048.
CleanExiHS_KCNJ1.
ExpressionAtlasiP48048. baseline and differential.
GenevestigatoriP48048.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR003268. K_chnl_inward-rec_Kir1.1.
IPR013518. K_chnl_inward-rec_Kir_cyto.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF6. PTHR11767:SF6. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01321. KIR11CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel."
    Shuck M.E., Bock J.H., Benjamin C.W., Tsai T.-D., Lee K.S., Slightom J.L., Bienkowski M.J.
    J. Biol. Chem. 269:24261-24270(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
    Tissue: Kidney.
  2. "Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA."
    Yano H., Philipson L.H., Kugler J.L., Tokuyama Y., Davis E.M., le Beau M.M., Nelson D.J., Bell G.I., Takeda J.
    Mol. Pharmacol. 45:854-860(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
    Tissue: Kidney.
  3. "Nucleotide sequence analysis of the human KCNJ1 potassium channel locus."
    Bock J.H., Shuck M.E., Benjamin C.W., Chee M., Bienkowski M.J., Slightom J.L.
    Gene 188:9-16(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. "Isolation and chromosomal localization of a human ATP-regulated potassium channel."
    Krishnan S.N., Desai T., Ward D.C., Haddad G.G.
    Hum. Genet. 96:155-160(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 76-177, TISSUE SPECIFICITY.
    Tissue: Brain cortex.
  7. "Glycosylation of GIRK1 at Asn119 and ROMK1 at Asn117 has different consequences in potassium channel function."
    Pabon A., Chan K.W., Sui J.L., Wu X., Logothetis D.E., Thornhill W.B.
    J. Biol. Chem. 275:30677-30682(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT ASN-117.
  8. "Molecular requirements for the regulation of the renal outer medullary K(+) channel ROMK1 by the serum- and glucocorticoid-inducible kinase SGK1."
    Palmada M., Embark H.M., Yun C., Bohmer C., Lang F.
    Biochem. Biophys. Res. Commun. 311:629-634(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SGK1 AND SLC9A3R2/NHERF2.
  9. "Cell surface expression of the ROMK (Kir 1.1) channel is regulated by the aldosterone-induced kinase, SGK-1, and protein kinase A."
    Yoo D., Kim B.Y., Campo C., Nance L., King A., Maouyo D., Welling P.A.
    J. Biol. Chem. 278:23066-23075(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-44 BY SGK1, SUBCELLULAR LOCATION.
  10. "WNK3, a kinase related to genes mutated in hereditary hypertension with hyperkalaemia, regulates the K+ channel ROMK1 (Kir1.1)."
    Leng Q., Kahle K.T., Rinehart J., MacGregor G.G., Wilson F.H., Canessa C.M., Lifton R.P., Hebert S.C.
    J. Physiol. (Lond.) 571:275-286(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: ENZYME REGULATION.
  11. "Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK."
    Simon D.B., Karet F.E., Rodriguez-Soriano J., Hamdan J.H., DiPietro A., Trachtman H., Sanjad S.A., Lifton R.P.
    Nat. Genet. 14:152-156(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS BS2 VAL-214; ARG-219 AND THR-357.
  12. Cited for: VARIANTS BS2 GLU-72; TYR-74; CYS-99; HIS-108; LEU-110; GLU-122; GLU-167; THR-198 AND GLY-315.
  13. "A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels."
    Derst C., Wischmeyer E., Preisig-Mueller R., Spauschus A., Konrad M., Hensen P., Jeck N., Seyberth H.W., Daut J., Karschin A.
    J. Biol. Chem. 273:23884-23891(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BS2 LYS-124.
  14. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-115.

Entry informationi

Entry nameiKCNJ1_HUMAN
AccessioniPrimary (citable) accession number: P48048
Secondary accession number(s): B2RMR4, Q6LD67
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: February 4, 2015
This is version 151 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.