Swiss-Prot entry
ID IRK11_HUMAN STANDARD; PRT; 390 AA.
AC Q14654;
DT 01-NOV-1997 (Rel. 35, Created)
DT 01-NOV-1997 (Rel. 35, Last sequence update)
DT 10-MAY-2005 (Rel. 47, Last annotation update)
DE ATP-sensitive inward rectifier potassium channel 11 (Potassium
DE channel, inwardly rectifying, subfamily J, member 11) (Inward
DE rectifier K(+) channel Kir6.2) (IKATP).
GN Name=KCNJ11;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE.
RC TISSUE=Placenta;
RX MEDLINE=96072967; PubMed=7502040 [NCBI, ExPASy, EBI, Israel, Japan];
RA Inagaki N., Gonoi T., Clement J.P. IV, Namba N., Inazawa J.,
RA Gonzalez G., Aguilar-Bryan L., Seino S., Bryan J.;
RT "Reconstitution of IKATP: an inward rectifier subunit plus the
RT sulfonylurea receptor.";
RL Science 270:1166-1170(1995).
RN [2]
RP REVIEW ON VARIANTS.
RX MEDLINE=99268411; PubMed=10338089 [NCBI, ExPASy, EBI, Israel, Japan];
RX DOI=10.1002/(SICI)1098-1004(1999)13:5<351::AID-HUMU3>3.3.CO;2-I;
RA Meissner T., Beinbrech B., Mayatepek E.;
RT "Congenital hyperinsulinism: molecular basis of a heterogeneous
RT disease.";
RL Hum. Mutat. 13:351-361(1999).
RN [3]
RP VARIANT PHHI PRO-147.
RX MEDLINE=95150032; PubMed=7847376 [NCBI, ExPASy, EBI, Israel, Japan];
RA Thomas P.M., Cote G.J., Hallman D.M., Mathew P.M.;
RT "Homozygosity mapping, to chromosome 11p, of the gene for familial
RT persistent hyperinsulinemic hypoglycemia of infancy.";
RL Am. J. Hum. Genet. 56:416-421(1995).
RN [4]
RP VARIANTS NIDDM PRO-355 AND LYS-PRO-380 INS, AND VARIANTS LYS-23;
RP VAL-270; VAL-337 AND CYS-385.
RX MEDLINE=97052379; PubMed=8897013 [NCBI, ExPASy, EBI, Israel, Japan];
RA Sakura H., Wat N., Horton V., Millns H., Turner R.C., Ashcroft F.M.;
RT "Sequence variations in the human Kir6.2 gene, a subunit of the beta-
RT cell ATP-sensitive K-channel: no association with NIDDM in white
RT Caucasian subjects or evidence of abnormal function when expressed in
RT vitro.";
RL Diabetologia 39:1233-1236(1996).
RN [5]
RP VARIANTS LYS-10; LYS-23; VAL-270 AND VAL-337.
RX MEDLINE=97184307; PubMed=9032109 [NCBI, ExPASy, EBI, Israel, Japan];
RA Inoue H., Ferrer J., Warren-Perry M., Zhang Y., Millns H.,
RA Turner R.C., Elbein S.C., Hampe C.L., Suarez B.K., Inagaki N.,
RA Seino S., Permutt M.A.;
RT "Sequence variants in the pancreatic islet beta-cell inwardly
RT rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of
RT role in Caucasian patients with NIDDM.";
RL Diabetes 46:502-507(1997).
RN [6]
RP VARIANTS LYS-23 AND VAL-337.
RX MEDLINE=99318094; PubMed=10391210 [NCBI, ExPASy, EBI, Israel, Japan]; DOI=10.1038/10297;
RA Halushka M.K., Fan J.-B., Bentley K., Hsie L., Shen N., Weder A.,
RA Cooper R., Lipshutz R., Chakravarti A.;
RT "Patterns of single-nucleotide polymorphisms in candidate genes for
RT blood-pressure homeostasis.";
RL Nat. Genet. 22:239-247(1999).
CC -!- FUNCTION: This receptor is controlled by G proteins. Inward
CC rectifier potassium channels are characterized by a greater
CC tendancy to allow potassium to flow into the cell rather than out
CC 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
CC voltages. The inward rectification is mainly due to the blockage
CC of outward current by internal magnesium. Can be blocked by
CC extracellular barium (By similarity).
CC -!- SUBUNIT: Associates with ABCC8/SUR.
CC -!- SUBCELLULAR LOCATION: Integral membrane protein.
CC -!- DISEASE: Defects in KCNJ11 are a cause of familial persistent
CC hyperinsulinemic hypoglycemia of infancy (PHHI) [MIM:256450]. PHHI
CC is an autosomal recessive disorder characterized by unregulated
CC insulin secretion. It causes nesidioblastosis, a diffuse
CC abnormality of the pancreas in which there is extensive, often
CC disorganized formation of new islets.
CC -!- DISEASE: Defects in KCNJ11 may contribute to non-insulin-dependent
CC diabetes mellitus (NIDDM), also known as type II diabetes
CC mellitus.
CC -!- SIMILARITY: Belongs to the inward rectifier-type potassium channel
CC family.
CC --------------------------------------------------------------------------
CC This Swiss-Prot entry is copyright. It is produced through a collaboration
CC between the Swiss Institute of Bioinformatics and the EMBL outstation -
CC the European Bioinformatics Institute. There are no restrictions on its
CC use as long as its content is in no way modified and this statement is not
CC removed.
CC --------------------------------------------------------------------------
DR EMBL; D50582; BAA09131.1; -; Genomic_DNA. [EMBL / GenBank / DDBJ] [CoDingSequence]
DR PIR; A57616; A57616.
DR HSSP; P35562; 1N9P. [HSSP ENTRY / SWISS-3DIMAGE / PDB]
DR HGNC; HGNC:6257; KCNJ11.
DR CleanEx; HGNC:6257; KCNJ11.
DR MIM; 600937; -. [NCBI / EBI]
DR GeneCards; KCNJ11.
DR GeneLynx; KCNJ11.
DR GenAtlas; KCNJ11.
DR SOURCE; KCNJ11.
DR MIM; 256450; -. [NCBI / EBI]
DR MIM; 601820; -. [NCBI / EBI]
DR MIM; 602485; -. [NCBI / EBI]
DR GO; GO:0005887; C:integral to plasma membrane; TAS.
DR GO; GO:0005242; F:inward rectifier potassium channel activity; TAS.
DR GO; GO:0006813; P:potassium ion transport; TAS.
DR InterPro; IPR001838; K+channel_IR.
DR InterPro; IPR001622; K+channel_pore.
DR InterPro; IPR003279; KIR62_channel.
DR InterPro; Graphical view of domain structure.
DR PANTHER; PTHR11767; K+channel_IR; 1.
DR Pfam; PF01007; IRK; 1.
DR Pfam; Graphical view of domain structure.
DR PRINTS; PR01332; KIR62CHANNEL.
DR PRINTS; PR01320; KIRCHANNEL.
DR ProDom; PD001103; K+channel_IR; 1.
DR ProDom [Domain structure / List of seq. sharing at least 1 domain ]
DR CMR; Q14654.
DR HOVERGEN [Family / Alignment / Tree]
DR BLOCKS; Q14654.
DR ProtoNet; Q14654.
DR ProtoMap; Q14654.
DR PRESAGE; Q14654.
DR DIP; Q14654.
DR ModBase; Q14654.
DR SWISS-2DPAGE; GET REGION ON 2D PAGE.
KW Diabetes mellitus; Disease mutation; Ion transport; Ionic channel;
KW Polymorphism; Potassium; Potassium transport; Transmembrane;
KW Transport; Voltage-gated channel.
FT TOPO_DOM 1 68 Cytoplasmic (By similarity).
FT TRANSMEM 69 93 M1 (By similarity).
FT TOPO_DOM 94 116 Extracellular (By similarity).
FT TOPO_DOM 136 144 Extracellular (By similarity).
FT TRANSMEM 145 166 M2 (By similarity).
FT TOPO_DOM 167 390 Cytoplasmic (By similarity).
FT REGION 117 128 H5 (pore-forming helix) (By similarity).
FT MOTIF 130 135 Selectivity filter (By similarity).
FT SITE 160 160 Role in the control of polyamine-mediated
FT channel gating and in the blocking by
FT intracellular magnesium (By similarity).
FT VARIANT 10 10 E -> K (rare polymorphism).
FT /FTId=VAR_008659.
FT VARIANT 23 23 E -> K (linked to V-337; dbSNP:5219).
FT /FTId=VAR_008660.
FT VARIANT 147 147 L -> P (in PHHI).
FT /FTId=VAR_001557.
FT VARIANT 195 195 R -> H (in dbSNP:5217).
FT /FTId=VAR_014929.
FT VARIANT 270 270 L -> V (in dbSNP:1800467).
FT /FTId=VAR_008661.
FT VARIANT 337 337 I -> V (linked to K-23; dbSNP:5215).
FT /FTId=VAR_008662.
FT VARIANT 355 355 L -> P (in NIDDM; Afro-Caribbean).
FT /FTId=VAR_008663.
FT VARIANT 380 380 P -> PKP (in NIDDM).
FT /FTId=VAR_008664.
FT VARIANT 385 385 S -> C.
FT /FTId=VAR_008665.
SQ SEQUENCE 390 AA; 43515 MW; D345E3FCD2F8BF9F CRC64;
MLSRKGIIPE EYVLTRLAED PAEPRYRARQ RRARFVSKKG NCNVAHKNIR EQGRFLQDVF
TTLVDLKWPH TLLIFTMSFL CSWLLFAMAW WLIAFAHGDL APSEGTAEPC VTSIHSFSSA
FLFSIEVQVT IGFGGRMVTE ECPLAILSLI VQNIVGLMIN AIMLGCIFMK TAQAHRRAET
LIFSKHAVIA LRHGRLCFML RVGDLRKSMI ISATIHMQVV RKTTSPEGEV VPLHQVDIPM
ENGVGGNSIF LVAPLIIYHV IDANSPLYDL APSDLHHHQD LEIIVILEGV VETTGITTQA
RTSYLADEIL WGQRFVPIVA EEDGRYSVDY SKFGNTIKVP TPLCTARQLD EDHSLLEALT
LASARGPLRK RSVPMAKAKP KFSISPDSLS
//