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Inward rectifier potassium channel 13 (Inward rectifier K( ) channel Kir7.1) (Potassium channel, inwardly rectifying subfamily J member 13)

 KCJ13_HUMAN             Reviewed;         360 AA.
O60928; A0PGH1; O76023; Q53SA1; Q8N3Y4;
27-APR-2001, integrated into UniProtKB/Swiss-Prot.
01-AUG-1998, sequence version 1.
25-OCT-2017, entry version 163.
RecName: Full=Inward rectifier potassium channel 13;
AltName: Full=Inward rectifier K(+) channel Kir7.1;
AltName: Full=Potassium channel, inwardly rectifying subfamily J member 13;
Name=KCNJ13;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-175.
TISSUE=Brain;
PubMed=9738472; DOI=10.1016/S0014-5793(98)00972-7;
Partiseti M., Collura V., Agnel M., Culouscou J.-M., Graham D.;
"Cloning and characterization of a novel human inwardly rectifying
potassium channel predominantly expressed in small intestine.";
FEBS Lett. 434:171-176(1998).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=9620703; DOI=10.1016/S0896-6273(00)80480-8;
Krapivinsky G., Medina I., Eng L., Krapivinsky L., Yang Y.,
Clapham D.E.;
"A novel inward rectifier K+ channel with unique pore properties.";
Neuron 20:995-1005(1998).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND ALTERNATIVE
SPLICING.
TISSUE=Eye;
PubMed=18035352; DOI=10.1016/j.exer.2007.09.011;
Yang D., Swaminathan A., Zhang X., Hughes B.A.;
"Expression of Kir7.1 and a novel Kir7.1 splice variant in native
human retinal pigment epithelium.";
Exp. Eye Res. 86:81-91(2008).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Small intestine;
Hirose S., Suzuki Y., Nakamura N.;
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Nakamura N., Matsuki T., Suzuki Y., Sakuta H., Ito T., Hirose S.;
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Testis;
Doering F., Derst C., Wischmeyer E., Karschin C., Daut J.,
Karschin A.;
"Unique epithelial Kir7.1 subunit defines a new subfamily of inwardly
rectifying potassium channels.";
Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Hippocampus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
ILE-175; GLN-290 AND CYS-309.
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-175.
PubMed=9878260; DOI=10.1006/geno.1998.5598;
Derst C., Doring F., Preisig-M ueller R., Daut J., Karschin A.,
Jeck N., Weber S., Engel H., Grzeschik K.-H.;
"Partial gene structure and assignment to chromosome 2q37 of the human
inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).";
Genomics 54:560-563(1998).
[12]
PHOSPHORYLATION AT SER-201 AND SER-287.
PubMed=18976636; DOI=10.1016/j.bbrc.2008.10.110;
Zhang W., Zitron E., Bloehs R., Muller-Krebs S., Scholz E., Zeier M.,
Katus H., Karle C., Schwenger V.;
"Dual regulation of renal Kir7.1 potassium channels by protein Kinase
A and protein Kinase C.";
Biochem. Biophys. Res. Commun. 377:981-986(2008).
[13]
VARIANT SVD TRP-162, AND CHARACTERIZATION OF VARIANT SVD TRP-162.
PubMed=18179896; DOI=10.1016/j.ajhg.2007.08.002;
Hejtmancik J.F., Jiao X., Li A., Sergeev Y.V., Ding X., Sharma A.K.,
Chan C.-C., Medina I., Edwards A.O.;
"Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal
degeneration.";
Am. J. Hum. Genet. 82:174-180(2008).
[14]
VARIANTS LCA16 ARG-117 AND PRO-241, AND VARIANTS GLN-162 AND ALA-276.
PubMed=21763485; DOI=10.1016/j.ajhg.2011.06.002;
Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X.,
Plagnol V., Moore A.T., Webster A.R.;
"Recessive mutations in KCNJ13, encoding an inwardly rectifying
potassium channel subunit, cause leber congenital amaurosis.";
Am. J. Hum. Genet. 89:183-190(2011).
-!- FUNCTION: 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. KCNJ13 has a
very low single channel conductance, low sensitivity to block by
external barium and cesium, and no dependence of its inward
rectification properties on the internal blocking particle
magnesium.
-!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O60928-1; Sequence=Displayed;
Name=2; Synonyms=Kir7.1S;
IsoId=O60928-2; Sequence=VSP_042627, VSP_042628;
-!- TISSUE SPECIFICITY: Predominantly expressed in small intestine.
Expression is also detected in stomach, kidney, and all central
nervous system regions tested with the exception of spinal cord.
-!- PTM: Phosphorylation at Ser-201 by PKC strongly inhibits ionic
currents, while phosphorylation at Ser-287 by PKA increases them.
{ECO:0000269|PubMed:18976636}.
-!- DISEASE: Snowflake vitreoretinal degeneration (SVD) [MIM:193230]:
Developmental and progressive hereditary eye disorder that affects
multiple tissues within the eye. Diagnostic features of SVD
include fibrillar degeneration of the vitreous humor, early-onset
cataract, minute crystalline deposits in the neurosensory retina,
and retinal detachment. {ECO:0000269|PubMed:18179896}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Leber congenital amaurosis 16 (LCA16) [MIM:614186]: A
severe dystrophy of the retina, typically becoming evident in the
first years of life. Visual function is usually poor and often
accompanied by nystagmus, sluggish or near-absent pupillary
responses, photophobia, high hyperopia and keratoconus.
{ECO:0000269|PubMed:21763485}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the inward rectifier-type potassium channel
(TC 1.A.2.1) family. KCNJ13 subfamily. {ECO:0000305}.
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EMBL; AJ007557; CAA07552.1; -; mRNA.
EMBL; AF061118; AAC15769.1; -; mRNA.
EMBL; AY758240; AAX08098.1; -; mRNA.
EMBL; AY758241; AAX08099.1; -; mRNA.
EMBL; AB013889; BAA28271.1; -; mRNA.
EMBL; AB013891; BAA28273.1; -; mRNA.
EMBL; AJ006128; CAA06878.1; -; mRNA.
EMBL; AK314019; BAG36730.1; -; mRNA.
EMBL; AC064852; AAX93190.1; -; Genomic_DNA.
EMBL; CH471063; EAW71019.1; -; Genomic_DNA.
EMBL; BC037290; AAH37290.1; -; mRNA.
EMBL; AF082182; AAD08673.1; -; Genomic_DNA.
CCDS; CCDS2498.1; -. [O60928-1]
CCDS; CCDS54437.1; -. [O60928-2]
RefSeq; NP_001165887.1; NM_001172416.1. [O60928-2]
RefSeq; NP_001165888.1; NM_001172417.1.
RefSeq; NP_002233.2; NM_002242.4. [O60928-1]
UniGene; Hs.467338; -.
ProteinModelPortal; O60928; -.
SMR; O60928; -.
STRING; 9606.ENSP00000233826; -.
BindingDB; O60928; -.
ChEMBL; CHEMBL2146349; -.
GuidetoPHARMACOLOGY; 443; -.
TCDB; 1.A.2.1.8; the inward rectifier k(+) channel (irk-c) family.
iPTMnet; O60928; -.
PhosphoSitePlus; O60928; -.
BioMuta; KCNJ13; -.
PaxDb; O60928; -.
PeptideAtlas; O60928; -.
PRIDE; O60928; -.
DNASU; 3769; -.
Ensembl; ENST00000233826; ENSP00000233826; ENSG00000115474. [O60928-1]
Ensembl; ENST00000409779; ENSP00000386408; ENSG00000115474. [O60928-2]
Ensembl; ENST00000410029; ENSP00000386251; ENSG00000115474. [O60928-1]
GeneID; 3769; -.
KEGG; hsa:3769; -.
UCSC; uc002vtn.4; human. [O60928-1]
CTD; 3769; -.
DisGeNET; 3769; -.
EuPathDB; HostDB:ENSG00000115474.6; -.
GeneCards; KCNJ13; -.
GeneReviews; KCNJ13; -.
H-InvDB; HIX0002929; -.
HGNC; HGNC:6259; KCNJ13.
MalaCards; KCNJ13; -.
MIM; 193230; phenotype.
MIM; 603208; gene.
MIM; 614186; phenotype.
neXtProt; NX_O60928; -.
OpenTargets; ENSG00000115474; -.
Orphanet; 65; Leber congenital amaurosis.
Orphanet; 91496; Snowflake vitreoretinal degeneration.
PharmGKB; PA30044; -.
eggNOG; KOG3827; Eukaryota.
eggNOG; ENOG410XQ62; LUCA.
GeneTree; ENSGT00900000140895; -.
HOGENOM; HOG000237326; -.
HOVERGEN; HBG006178; -.
InParanoid; O60928; -.
KO; K05006; -.
OMA; SSEECPF; -.
OrthoDB; EOG091G0DOU; -.
PhylomeDB; O60928; -.
TreeFam; TF313676; -.
SIGNOR; O60928; -.
GeneWiki; KCNJ13; -.
GenomeRNAi; 3769; -.
PRO; PR:O60928; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000115474; -.
CleanEx; HS_KCNJ13; -.
ExpressionAtlas; O60928; baseline and differential.
Genevisible; O60928; HS.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005242; F:inward rectifier potassium channel activity; IBA:GO_Central.
GO; GO:0010107; P:potassium ion import; IBA:GO_Central.
GO; GO:0006813; P:potassium ion transport; NAS:UniProtKB.
Gene3D; 2.60.40.1400; -; 1.
InterPro; IPR014756; Ig_E-set.
InterPro; IPR016449; K_chnl_inward-rec_Kir.
InterPro; IPR013518; K_chnl_inward-rec_Kir_cyto.
InterPro; IPR008062; KCNJ13.
PANTHER; PTHR11767; PTHR11767; 1.
PANTHER; PTHR11767:SF3; PTHR11767:SF3; 1.
Pfam; PF01007; IRK; 1.
PIRSF; PIRSF005465; GIRK_kir; 1.
PRINTS; PR01679; KIR7CHANNEL.
PRINTS; PR01320; KIRCHANNEL.
SUPFAM; SSF81296; SSF81296; 1.
1: Evidence at protein level;
Alternative splicing; Cataract; Complete proteome; Disease mutation;
Ion channel; Ion transport; Leber congenital amaurosis; Membrane;
Phosphoprotein; Polymorphism; Potassium; Potassium transport;
Reference proteome; Transmembrane; Transmembrane helix; Transport;
Voltage-gated channel.
CHAIN 1 360 Inward rectifier potassium channel 13.
/FTId=PRO_0000154966.
TOPO_DOM 1 53 Cytoplasmic. {ECO:0000250}.
TRANSMEM 54 78 Helical; Name=M1. {ECO:0000250}.
TOPO_DOM 79 105 Extracellular. {ECO:0000250}.
INTRAMEM 106 117 Helical; Pore-forming; Name=H5.
{ECO:0000250}.
INTRAMEM 118 124 Pore-forming. {ECO:0000250}.
TOPO_DOM 125 133 Extracellular. {ECO:0000250}.
TRANSMEM 134 155 Helical; Name=M2. {ECO:0000250}.
TOPO_DOM 156 360 Cytoplasmic. {ECO:0000250}.
MOTIF 119 124 Selectivity filter. {ECO:0000250}.
SITE 149 149 Role in the control of polyamine-mediated
channel gating and in the blocking by
intracellular magnesium. {ECO:0000250}.
MOD_RES 201 201 Phosphoserine; by PKC.
{ECO:0000269|PubMed:18976636}.
MOD_RES 287 287 Phosphoserine; by PKA.
{ECO:0000269|PubMed:18976636}.
VAR_SEQ 76 94 YVLAEMNGDLELDHDAPPE -> CFCGEDCPAKKSSFFNSL
Y (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:18035352}.
/FTId=VSP_042627.
VAR_SEQ 95 360 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:18035352}.
/FTId=VSP_042628.
VARIANT 117 117 Q -> R (in LCA16).
{ECO:0000269|PubMed:21763485}.
/FTId=VAR_066488.
VARIANT 162 162 R -> Q (found in a patient with autosomal
recessive retinitis pigmentosa;
dbSNP:rs757304681).
{ECO:0000269|PubMed:21763485}.
/FTId=VAR_066489.
VARIANT 162 162 R -> W (in SVD; overexpression produces a
non-selective cation current that
depolarizes transfected cells and
increases their fragility;
dbSNP:rs121918542).
{ECO:0000269|PubMed:18179896}.
/FTId=VAR_043509.
VARIANT 175 175 T -> I (in dbSNP:rs1801251).
{ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:9738472}.
/FTId=VAR_016193.
VARIANT 241 241 L -> P (in LCA16; dbSNP:rs143607153).
{ECO:0000269|PubMed:21763485}.
/FTId=VAR_066490.
VARIANT 276 276 E -> A (found in a patient with autosomal
recessive retinitis pigmentosa;
dbSNP:rs374411396).
{ECO:0000269|PubMed:21763485}.
/FTId=VAR_066491.
VARIANT 290 290 P -> Q (in dbSNP:rs17853727).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_043510.
VARIANT 309 309 G -> C (in dbSNP:rs17857137).
{ECO:0000269|PubMed:15489334}.
/FTId=VAR_043511.
SEQUENCE 360 AA; 40530 MW; 0C49D0DBC619BC50 CRC64;
MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD MRWRWMMLVF
SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV KYITSFTAAF SFSLETQLTI
GYGTMFPSGD CPSAIALLAI QMLLGLMLEA FITGAFVAKI ARPKNRAFSI RFTDTAVVAH
MDGKPNLIFQ VANTRPSPLT SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP
LTYYHSITPS SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA
SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN FQISETGLTE


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