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P48048

- KCNJ1_HUMAN

UniProt

P48048 - KCNJ1_HUMAN

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Protein
ATP-sensitive inward rectifier potassium channel 1
Gene
KCNJ1, ROMK1
Organism
Homo sapiens (Human)
Status
Reviewed - 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 magnesium By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi223 – 2308ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. inward rectifier potassium channel activity Source: ProtInc
  3. 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 transmembrane transport Source: GOC
  6. potassium ion transport Source: ProtInc
  7. regulation of G-protein activated inward rectifier potassium channel activity Source: Ensembl
  8. renal sodium ion absorption Source: Ensembl
  9. synaptic transmission Source: Reactome
  10. 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; Multi-pass membrane protein
Note: Phosphorylation at Ser-44 by SGK1 is necessary for its expression at the cell membrane.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 7777Cytoplasmic By similarity
Add
BLAST
Transmembranei78 – 10225Helical; Name=M1; By similarity
Add
BLAST
Topological domaini103 – 12725Extracellular By similarity
Add
BLAST
Intramembranei128 – 13912Helical; Pore-forming; Name=H5; By similarity
Add
BLAST
Intramembranei140 – 1467Pore-forming; By similarity
Topological domaini147 – 1559Extracellular By similarity
Transmembranei156 – 17722Helical; Name=M2; By similarity
Add
BLAST
Topological domaini178 – 391214Cytoplasmic By similarity
Add
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 2 (BS2) [MIM:241200]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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 1
PRO_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.

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.
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.

Family & Domainsi

Motif

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

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG247934.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiP48048.
KOiK04995.
OMAiRYKMTIF.
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

MNASSRNVFD TLIRVLTESM FKHLRKWVVT RFFGHSRQRA RLVSKDGRCN    50
IEFGNVEAQS RFIFFVDIWT TVLDLKWRYK MTIFITAFLG SWFFFGLLWY 100
AVAYIHKDLP EFHPSANHTP CVENINGLTS AFLFSLETQV TIGYGFRCVT 150
EQCATAIFLL IFQSILGVII NSFMCGAILA KISRPKKRAK TITFSKNAVI 200
SKRGGKLCLL IRVANLRKSL LIGSHIYGKL LKTTVTPEGE TIILDQININ 250
FVVDAGNENL FFISPLTIYH VIDHNSPFFH MAAETLLQQD FELVVFLDGT 300
VESTSATCQV RTSYVPEEVL WGYRFAPIVS KTKEGKYRVD FHNFSKTVEV 350
ETPHCAMCLY NEKDVRARMK RGYDNPNFIL SEVNETDDTK M 391
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.
VSP_002797Add
BLAST
Alternative sequencei1 – 1212MNASS…VFDTL → MPTVYLCSEQ in isoform 3.
VSP_002798Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8476.1. [P48048-1 ]
CCDS8477.1. [P48048-2 ]
PIRi A55119.
RefSeqi NP_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 ]
UniGenei Hs.527830.

3D structure databases

ProteinModelPortali P48048.
SMRi P48048. Positions 39-356.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109960. 6 interactions.
MINTi MINT-90062.
STRINGi 9606.ENSP00000316136.

Chemistry

BindingDBi P48048.
ChEMBLi CHEMBL1293292.
DrugBanki DB00414. Acetohexamide.
DB00672. Chlorpropamide.
DB01016. Glibenclamide.
DB01120. Gliclazide.
DB00222. Glimepiride.
DB01067. Glipizide.
DB01382. Glycodiazine.
DB00350. Minoxidil.
DB00731. Nateglinide.
DB00912. Repaglinide.
DB00839. Tolazamide.
DB01124. Tolbutamide.
GuidetoPHARMACOLOGYi 429.

Protein family/group databases

TCDBi 1.A.2.1.1. inward rectifier k(+) channel (irk-c) family.

PTM databases

PhosphoSitei P48048.

Polymorphism databases

DMDMi 1352479.

Proteomic databases

PaxDbi P48048.
PRIDEi P48048.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000324003 ; 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 ]
GeneIDi 3758.
KEGGi hsa:3758.
UCSCi uc001qeo.2. human. [P48048-1 ]
uc001qeq.2. human. [P48048-3 ]

Organism-specific databases

CTDi 3758.
GeneCardsi GC11M128706.
HGNCi HGNC:6255. KCNJ1.
HPAi HPA026962.
MIMi 241200. phenotype.
600359. gene.
neXtProti NX_P48048.
Orphaneti 93604. Antenatal Bartter syndrome.
PharmGKBi PA213.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG247934.
HOGENOMi HOG000237326.
HOVERGENi HBG006178.
InParanoidi P48048.
KOi K04995.
OMAi RYKMTIF.
OrthoDBi EOG7XPZ5K.
PhylomeDBi P48048.
TreeFami TF313676.

Enzyme and pathway databases

Reactomei REACT_75815. Potassium transport channels.

Miscellaneous databases

GeneWikii ROMK.
GenomeRNAii 3758.
NextBioi 14725.
PROi P48048.
SOURCEi Search...

Gene expression databases

Bgeei P48048.
CleanExi HS_KCNJ1.
Genevestigatori P48048.

Family and domain databases

Gene3Di 2.60.40.1400. 1 hit.
InterProi IPR014756. 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 ]
PANTHERi PTHR11767. PTHR11767. 1 hit.
PTHR11767:SF6. PTHR11767:SF6. 1 hit.
Pfami PF01007. IRK. 1 hit.
[Graphical view ]
PIRSFi PIRSF005465. GIRK_kir. 1 hit.
PRINTSi PR01321. KIR11CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMi SSF81296. SSF81296. 1 hit.
ProtoNeti Search...

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: September 3, 2014
This is version 147 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