KCJ14_HUMAN
ID KCJ14_HUMAN Reviewed; 436 AA.
AC Q9UNX9;
DT 11-OCT-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 155.
DE RecName: Full=ATP-sensitive inward rectifier potassium channel 14;
DE AltName: Full=Inward rectifier K(+) channel Kir2.4;
DE Short=IRK-4;
DE AltName: Full=Potassium channel, inwardly rectifying subfamily J member 14;
GN Name=KCNJ14; Synonyms=IRK4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, AND TISSUE SPECIFICITY.
RX PubMed=10942728; DOI=10.1152/ajpcell.2000.279.3.c771;
RA Hughes B.A., Kumar G., Yuan Y., Swaminathan A., Yan D., Sharma A.,
RA Plumley L., Yang-Feng T.L., Swaroop A.;
RT "Cloning and functional expression of human retinal Kir2.4, a pH-sensitive
RT inwardly rectifying K+ channel.";
RL Am. J. Physiol. 279:C771-C784(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10723734; DOI=10.1007/s003350010047;
RA Toepert C., Doring F., Derst C., Daut J., Grzeschik K.H., Karschin A.;
RT "Cloning, structure and assignment to chromosome 19q13 of the human Kir2.4
RT inwardly rectifying potassium channel gene (KCNJ14).";
RL Mamm. Genome 11:247-249(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Inward rectifier potassium channels are characterized by a
CC greater tendency to allow potassium to flow into the cell rather than
CC out of it. Their voltage dependence is regulated by the concentration
CC of extracellular potassium; as external potassium is raised, the
CC voltage range of the channel opening shifts to more positive voltages.
CC The inward rectification is mainly due to the blockage of outward
CC current by internal magnesium. KCNJ14 gives rise to low-conductance
CC channels with a low affinity to the channel blockers Barium and Cesium
CC (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Expressed preferentially in retina.
CC {ECO:0000269|PubMed:10942728}.
CC -!- SIMILARITY: Belongs to the inward rectifier-type potassium channel (TC
CC 1.A.2.1) family. KCNJ14 subfamily. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF081466; AAD51376.1; -; mRNA.
DR EMBL; AF181988; AAF97619.1; -; Genomic_DNA.
DR EMBL; BC035918; AAH35918.1; -; mRNA.
DR CCDS; CCDS12721.1; -.
DR RefSeq; NP_037480.1; NM_013348.3.
DR AlphaFoldDB; Q9UNX9; -.
DR SMR; Q9UNX9; -.
DR STRING; 9606.ENSP00000375756; -.
DR DrugBank; DB11148; Butamben.
DR DrugBank; DB04855; Dronedarone.
DR DrugBank; DB01110; Miconazole.
DR DrugBank; DB00243; Ranolazine.
DR DrugBank; DB01392; Yohimbine.
DR GuidetoPHARMACOLOGY; 433; -.
DR BioMuta; KCNJ14; -.
DR DMDM; 54036159; -.
DR MassIVE; Q9UNX9; -.
DR PaxDb; Q9UNX9; -.
DR PeptideAtlas; Q9UNX9; -.
DR PRIDE; Q9UNX9; -.
DR ProteomicsDB; 85341; -.
DR TopDownProteomics; Q9UNX9; -.
DR Antibodypedia; 68399; 20 antibodies from 13 providers.
DR DNASU; 3770; -.
DR Ensembl; ENST00000342291.3; ENSP00000341479.1; ENSG00000182324.7.
DR Ensembl; ENST00000391884.2; ENSP00000375756.1; ENSG00000182324.7.
DR GeneID; 3770; -.
DR KEGG; hsa:3770; -.
DR MANE-Select; ENST00000342291.3; ENSP00000341479.1; NM_013348.4; NP_037480.1.
DR UCSC; uc002pje.3; human.
DR CTD; 3770; -.
DR GeneCards; KCNJ14; -.
DR HGNC; HGNC:6260; KCNJ14.
DR HPA; ENSG00000182324; Tissue enriched (retina).
DR MIM; 603953; gene.
DR neXtProt; NX_Q9UNX9; -.
DR OpenTargets; ENSG00000182324; -.
DR PharmGKB; PA30045; -.
DR VEuPathDB; HostDB:ENSG00000182324; -.
DR eggNOG; KOG3827; Eukaryota.
DR GeneTree; ENSGT01030000234586; -.
DR HOGENOM; CLU_022738_3_0_1; -.
DR InParanoid; Q9UNX9; -.
DR OMA; CHNGWAP; -.
DR OrthoDB; 1247924at2759; -.
DR PhylomeDB; Q9UNX9; -.
DR TreeFam; TF313676; -.
DR PathwayCommons; Q9UNX9; -.
DR Reactome; R-HSA-1296053; Classical Kir channels.
DR Reactome; R-HSA-5576886; Phase 4 - resting membrane potential.
DR SignaLink; Q9UNX9; -.
DR BioGRID-ORCS; 3770; 22 hits in 1067 CRISPR screens.
DR GeneWiki; KCNJ14; -.
DR GenomeRNAi; 3770; -.
DR Pharos; Q9UNX9; Tchem.
DR PRO; PR:Q9UNX9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q9UNX9; protein.
DR Bgee; ENSG00000182324; Expressed in lower esophagus mucosa and 91 other tissues.
DR Genevisible; Q9UNX9; HS.
DR GO; GO:0030425; C:dendrite; IEA:Ensembl.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0008076; C:voltage-gated potassium channel complex; TAS:ProtInc.
DR GO; GO:0005242; F:inward rectifier potassium channel activity; IBA:GO_Central.
DR GO; GO:1990573; P:potassium ion import across plasma membrane; IBA:GO_Central.
DR GO; GO:0034765; P:regulation of ion transmembrane transport; IBA:GO_Central.
DR Gene3D; 2.60.40.1400; -; 1.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR041647; IRK_C.
DR InterPro; IPR016449; K_chnl_inward-rec_Kir.
DR InterPro; IPR013518; K_chnl_inward-rec_Kir_cyto.
DR InterPro; IPR040445; Kir_TM.
DR PANTHER; PTHR11767; PTHR11767; 1.
DR Pfam; PF01007; IRK; 1.
DR Pfam; PF17655; IRK_C; 1.
DR PIRSF; PIRSF005465; GIRK_kir; 1.
DR PRINTS; PR01320; KIRCHANNEL.
DR SUPFAM; SSF81296; SSF81296; 1.
PE 1: Evidence at protein level;
KW Ion channel; Ion transport; Membrane; Potassium; Potassium transport;
KW Reference proteome; S-nitrosylation; Transmembrane; Transmembrane helix;
KW Transport; Voltage-gated channel.
FT CHAIN 1..436
FT /note="ATP-sensitive inward rectifier potassium channel 14"
FT /id="PRO_0000154968"
FT TOPO_DOM 1..86
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250"
FT TRANSMEM 87..111
FT /note="Helical; Name=M1"
FT /evidence="ECO:0000250"
FT TOPO_DOM 112..133
FT /note="Extracellular"
FT /evidence="ECO:0000250"
FT INTRAMEM 134..145
FT /note="Helical; Pore-forming; Name=H5"
FT /evidence="ECO:0000250"
FT INTRAMEM 146..152
FT /note="Pore-forming"
FT /evidence="ECO:0000250"
FT TOPO_DOM 153..161
FT /note="Extracellular"
FT /evidence="ECO:0000250"
FT TRANSMEM 162..183
FT /note="Helical; Name=M2"
FT /evidence="ECO:0000250"
FT TOPO_DOM 184..436
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250"
FT REGION 14..43
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 400..436
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 147..152
FT /note="Selectivity filter"
FT /evidence="ECO:0000250"
FT COMPBIAS 400..414
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 81
FT /note="S-nitrosocysteine"
FT /evidence="ECO:0000250|UniProtKB:P63252"
FT VARIANT 289
FT /note="R -> C (in dbSNP:rs3745725)"
FT /id="VAR_034019"
SQ SEQUENCE 436 AA; 47846 MW; 9442E664007D1B7C CRC64;
MGLARALRRL SGALDSGDSR AGDEEEAGPG LCRNGWAPAP VQSPVGRRRG RFVKKDGHCN
VRFVNLGGQG ARYLSDLFTT CVDVRWRWMC LLFSCSFLAS WLLFGLAFWL IASLHGDLAA
PPPPAPCFSH VASFLAAFLF ALETQTSIGY GVRSVTEECP AAVAAVVLQC IAGCVLDAFV
VGAVMAKMAK PKKRNETLVF SENAVVALRD HRLCLMWRVG NLRRSHLVEA HVRAQLLQPR
VTPEGEYIPL DHQDVDVGFD GGTDRIFLVS PITIVHEIDS ASPLYELGRA ELARADFELV
VILEGMVEAT AMTTQCRSSY LPGELLWGHR FEPVLFQRGS QYEVDYRHFH RTYEVPGTPV
CSAKELDERA EQASHSLKSS FPGSLTAFCY ENELALSCCQ EEDEDDETEE GNGVETEDGA
ASPRVLTPTL ALTLPP
