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O60928

- KCJ13_HUMAN

UniProt

O60928 - KCJ13_HUMAN

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Protein

Inward rectifier potassium channel 13

Gene

KCNJ13

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

Functioni

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.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei149 – 1491Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity

GO - Molecular functioni

  1. inward rectifier potassium channel activity Source: UniProtKB

GO - Biological processi

  1. potassium ion transmembrane transport Source: GOC
  2. potassium ion transport Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Protein family/group databases

TCDBi1.A.2.1.8. inward rectifier k(+) channel (irk-c) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Inward rectifier potassium channel 13
Alternative name(s):
Inward rectifier K(+) channel Kir7.1
Potassium channel, inwardly rectifying subfamily J member 13
Gene namesi
Name:KCNJ13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6259. KCNJ13.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5353CytoplasmicBy similarityAdd
BLAST
Transmembranei54 – 7825Helical; Name=M1By similarityAdd
BLAST
Topological domaini79 – 10527ExtracellularBy similarityAdd
BLAST
Intramembranei106 – 11712Helical; Pore-forming; Name=H5By similarityAdd
BLAST
Intramembranei118 – 1247Pore-formingBy similarity
Topological domaini125 – 1339ExtracellularBy similarity
Transmembranei134 – 15522Helical; Name=M2By similarityAdd
BLAST
Topological domaini156 – 360205CytoplasmicBy similarityAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti162 – 1621R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 Publication
VAR_043509
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti117 – 1171Q → R in LCA16. 1 Publication
VAR_066488
Natural varianti241 – 2411L → P in LCA16. 1 Publication
VAR_066490

Keywords - Diseasei

Cataract, Disease mutation, Leber congenital amaurosis

Organism-specific databases

MIMi193230. phenotype.
614186. phenotype.
Orphaneti65. Leber congenital amaurosis.
91496. Snowflake vitreoretinal degeneration.
PharmGKBiPA30044.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 360360Inward rectifier potassium channel 13PRO_0000154966Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei201 – 2011Phosphoserine; by PKC1 Publication
Modified residuei287 – 2871Phosphoserine; by PKA1 Publication

Post-translational modificationi

Phosphorylation at Ser-201 by PKC strongly inhibits ionic currents, while phosphorylation at Ser-287 by PKA increases them.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO60928.
PRIDEiO60928.

PTM databases

PhosphoSiteiO60928.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiO60928.
CleanExiHS_KCNJ13.
ExpressionAtlasiO60928. baseline and differential.
GenevestigatoriO60928.

Organism-specific databases

HPAiHPA051609.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000233826.

Structurei

3D structure databases

ProteinModelPortaliO60928.
SMRiO60928. Positions 19-326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi119 – 1246Selectivity filterBy similarity

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG280854.
GeneTreeiENSGT00750000117737.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiO60928.
KOiK05006.
OMAiASFVVHW.
OrthoDBiEOG7NW69K.
PhylomeDBiO60928.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiIPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR013518. K_chnl_inward-rec_Kir_cyto.
IPR008062. KCNJ13.
[Graphical view]
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF3. PTHR11767:SF3. 1 hit.
PfamiPF01007. IRK. 1 hit.
[Graphical view]
PIRSFiPIRSF005465. GIRK_kir. 1 hit.
PRINTSiPR01679. KIR7CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMiSSF81296. SSF81296. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60928-1) [UniParc]FASTAAdd to Basket

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
MDSSNCKVIA PLLSQRYRRM VTKDGHSTLQ MDGAQRGLAY LRDAWGILMD
60 70 80 90 100
MRWRWMMLVF SASFVVHWLV FAVLWYVLAE MNGDLELDHD APPENHTICV
110 120 130 140 150
KYITSFTAAF SFSLETQLTI GYGTMFPSGD CPSAIALLAI QMLLGLMLEA
160 170 180 190 200
FITGAFVAKI ARPKNRAFSI RFTDTAVVAH MDGKPNLIFQ VANTRPSPLT
210 220 230 240 250
SVRVSAVLYQ ERENGKLYQT SVDFHLDGIS SDECPFFIFP LTYYHSITPS
260 270 280 290 300
SPLATLLQHE NPSHFELVVF LSAMQEGTGE ICQRRTSYLP SEIMLHHCFA
310 320 330 340 350
SLLTRGSKGE YQIKMENFDK TVPEFPTPLV SKSPNRTDLD IHINGQSIDN
360
FQISETGLTE
Length:360
Mass (Da):40,530
Last modified:August 1, 1998 - v1
Checksum:i0C49D0DBC619BC50
GO
Isoform 2 (identifier: O60928-2) [UniParc]FASTAAdd to Basket

Also known as: Kir7.1S

The sequence of this isoform differs from the canonical sequence as follows:
     76-94: YVLAEMNGDLELDHDAPPE → CFCGEDCPAKKSSFFNSLY
     95-360: Missing.

Show »
Length:94
Mass (Da):10,980
Checksum:i6AAE08F28C4307FB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti117 – 1171Q → R in LCA16. 1 Publication
VAR_066488
Natural varianti162 – 1621R → Q Found in a patient with autosomal recessive retinitis pigmentosa. 1 Publication
VAR_066489
Natural varianti162 – 1621R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 Publication
VAR_043509
Natural varianti175 – 1751T → I.2 Publications
Corresponds to variant rs1801251 [ dbSNP | Ensembl ].
VAR_016193
Natural varianti241 – 2411L → P in LCA16. 1 Publication
VAR_066490
Natural varianti276 – 2761E → A Found in a patient with autosomal recessive retinitis pigmentosa. 1 Publication
VAR_066491
Natural varianti290 – 2901P → Q.1 Publication
Corresponds to variant rs17853727 [ dbSNP | Ensembl ].
VAR_043510
Natural varianti309 – 3091G → C.1 Publication
Corresponds to variant rs17857137 [ dbSNP | Ensembl ].
VAR_043511

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei76 – 9419YVLAE…DAPPE → CFCGEDCPAKKSSFFNSLY in isoform 2. 2 PublicationsVSP_042627Add
BLAST
Alternative sequencei95 – 360266Missing in isoform 2. 2 PublicationsVSP_042628Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007557 mRNA. Translation: CAA07552.1.
AF061118 mRNA. Translation: AAC15769.1.
AY758240 mRNA. Translation: AAX08098.1.
AY758241 mRNA. Translation: AAX08099.1.
AB013889 mRNA. Translation: BAA28271.1.
AB013891 mRNA. Translation: BAA28273.1.
AJ006128 mRNA. Translation: CAA06878.1.
AK314019 mRNA. Translation: BAG36730.1.
AC064852 Genomic DNA. Translation: AAX93190.1.
CH471063 Genomic DNA. Translation: EAW71019.1.
BC037290 mRNA. Translation: AAH37290.1.
AF082182 Genomic DNA. Translation: AAD08673.1.
CCDSiCCDS2498.1. [O60928-1]
CCDS54437.1. [O60928-2]
RefSeqiNP_001165887.1. NM_001172416.1. [O60928-2]
NP_001165888.1. NM_001172417.1.
NP_002233.2. NM_002242.4. [O60928-1]
UniGeneiHs.467338.

Genome annotation databases

EnsembliENST00000233826; ENSP00000233826; ENSG00000115474. [O60928-1]
ENST00000409779; ENSP00000386408; ENSG00000115474. [O60928-2]
ENST00000410029; ENSP00000386251; ENSG00000115474. [O60928-1]
GeneIDi3769.
KEGGihsa:3769.
UCSCiuc002vtn.3. human. [O60928-2]
uc002vto.3. human. [O60928-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ007557 mRNA. Translation: CAA07552.1 .
AF061118 mRNA. Translation: AAC15769.1 .
AY758240 mRNA. Translation: AAX08098.1 .
AY758241 mRNA. Translation: AAX08099.1 .
AB013889 mRNA. Translation: BAA28271.1 .
AB013891 mRNA. Translation: BAA28273.1 .
AJ006128 mRNA. Translation: CAA06878.1 .
AK314019 mRNA. Translation: BAG36730.1 .
AC064852 Genomic DNA. Translation: AAX93190.1 .
CH471063 Genomic DNA. Translation: EAW71019.1 .
BC037290 mRNA. Translation: AAH37290.1 .
AF082182 Genomic DNA. Translation: AAD08673.1 .
CCDSi CCDS2498.1. [O60928-1 ]
CCDS54437.1. [O60928-2 ]
RefSeqi NP_001165887.1. NM_001172416.1. [O60928-2 ]
NP_001165888.1. NM_001172417.1.
NP_002233.2. NM_002242.4. [O60928-1 ]
UniGenei Hs.467338.

3D structure databases

ProteinModelPortali O60928.
SMRi O60928. Positions 19-326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000233826.

Chemistry

BindingDBi O60928.
ChEMBLi CHEMBL2146349.
GuidetoPHARMACOLOGYi 443.

Protein family/group databases

TCDBi 1.A.2.1.8. inward rectifier k(+) channel (irk-c) family.

PTM databases

PhosphoSitei O60928.

Proteomic databases

PaxDbi O60928.
PRIDEi O60928.

Protocols and materials databases

DNASUi 3769.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000233826 ; ENSP00000233826 ; ENSG00000115474 . [O60928-1 ]
ENST00000409779 ; ENSP00000386408 ; ENSG00000115474 . [O60928-2 ]
ENST00000410029 ; ENSP00000386251 ; ENSG00000115474 . [O60928-1 ]
GeneIDi 3769.
KEGGi hsa:3769.
UCSCi uc002vtn.3. human. [O60928-2 ]
uc002vto.3. human. [O60928-1 ]

Organism-specific databases

CTDi 3769.
GeneCardsi GC02M233630.
GeneReviewsi KCNJ13.
H-InvDB HIX0002929.
HGNCi HGNC:6259. KCNJ13.
HPAi HPA051609.
MIMi 193230. phenotype.
603208. gene.
614186. phenotype.
neXtProti NX_O60928.
Orphaneti 65. Leber congenital amaurosis.
91496. Snowflake vitreoretinal degeneration.
PharmGKBi PA30044.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG280854.
GeneTreei ENSGT00750000117737.
HOGENOMi HOG000237326.
HOVERGENi HBG006178.
InParanoidi O60928.
KOi K05006.
OMAi ASFVVHW.
OrthoDBi EOG7NW69K.
PhylomeDBi O60928.
TreeFami TF313676.

Miscellaneous databases

GeneWikii KCNJ13.
GenomeRNAii 3769.
NextBioi 14781.
PROi O60928.
SOURCEi Search...

Gene expression databases

Bgeei O60928.
CleanExi HS_KCNJ13.
ExpressionAtlasi O60928. baseline and differential.
Genevestigatori O60928.

Family and domain databases

Gene3Di 2.60.40.1400. 1 hit.
InterProi IPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR013518. K_chnl_inward-rec_Kir_cyto.
IPR008062. KCNJ13.
[Graphical view ]
PANTHERi PTHR11767. PTHR11767. 1 hit.
PTHR11767:SF3. PTHR11767:SF3. 1 hit.
Pfami PF01007. IRK. 1 hit.
[Graphical view ]
PIRSFi PIRSF005465. GIRK_kir. 1 hit.
PRINTSi PR01679. KIR7CHANNEL.
PR01320. KIRCHANNEL.
SUPFAMi SSF81296. SSF81296. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine."
    Partiseti M., Collura V., Agnel M., Culouscou J.-M., Graham D.
    FEBS Lett. 434:171-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ILE-175.
    Tissue: Brain.
  2. "A novel inward rectifier K+ channel with unique pore properties."
    Krapivinsky G., Medina I., Eng L., Krapivinsky L., Yang Y., Clapham D.E.
    Neuron 20:995-1005(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "Expression of Kir7.1 and a novel Kir7.1 splice variant in native human retinal pigment epithelium."
    Yang D., Swaminathan A., Zhang X., Hughes B.A.
    Exp. Eye Res. 86:81-91(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), ALTERNATIVE SPLICING.
    Tissue: Eye.
  4. Hirose S., Suzuki Y., Nakamura N.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Small intestine.
  5. Nakamura N., Matsuki T., Suzuki Y., Sakuta H., Ito T., Hirose S.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  6. "Unique epithelial Kir7.1 subunit defines a new subfamily of inwardly rectifying potassium channels."
    Doering F., Derst C., Wischmeyer E., Karschin C., Daut J., Karschin A.
    Submitted (MAY-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Testis.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    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.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Hippocampus.
  8. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    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.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  10. "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), VARIANTS ILE-175; GLN-290 AND CYS-309.
    Tissue: Brain.
  11. "Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13)."
    Derst C., Doring F., Preisig-M ueller R., Daut J., Karschin A., Jeck N., Weber S., Engel H., Grzeschik K.-H.
    Genomics 54:560-563(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 147-175.
  12. "Dual regulation of renal Kir7.1 potassium channels by protein Kinase A and protein Kinase C."
    Zhang W., Zitron E., Bloehs R., Muller-Krebs S., Scholz E., Zeier M., Katus H., Karle C., Schwenger V.
    Biochem. Biophys. Res. Commun. 377:981-986(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-201 AND SER-287.
  13. "Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration."
    Hejtmancik J.F., Jiao X., Li A., Sergeev Y.V., Ding X., Sharma A.K., Chan C.-C., Medina I., Edwards A.O.
    Am. J. Hum. Genet. 82:174-180(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SVD TRP-162, CHARACTERIZATION OF VARIANT SVD TRP-162.
  14. "Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis."
    Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X., Plagnol V., Moore A.T., Webster A.R.
    Am. J. Hum. Genet. 89:183-190(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA16 ARG-117 AND PRO-241, VARIANTS GLN-162 AND ALA-276.

Entry informationi

Entry nameiKCJ13_HUMAN
AccessioniPrimary (citable) accession number: O60928
Secondary accession number(s): A0PGH1
, O76023, Q53SA1, Q8N3Y4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: August 1, 1998
Last modified: November 26, 2014
This is version 138 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 2
    Human chromosome 2: 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

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