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Protein

Inward rectifier potassium channel 13

Gene

KCNJ13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Sitei149Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesiumBy similarity1

GO - Molecular functioni

GO - Biological processi

  • potassium ion import Source: GO_Central
  • potassium ion transport Source: UniProtKB

Keywordsi

Molecular functionIon channel, Voltage-gated channel
Biological processIon transport, Potassium transport, Transport
LigandPotassium

Enzyme and pathway databases

SIGNORiO60928.

Protein family/group databases

TCDBi1.A.2.1.8. the 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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115474.6.
HGNCiHGNC:6259. KCNJ13.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 53CytoplasmicBy similarityAdd BLAST53
Transmembranei54 – 78Helical; Name=M1By similarityAdd BLAST25
Topological domaini79 – 105ExtracellularBy similarityAdd BLAST27
Intramembranei106 – 117Helical; Pore-forming; Name=H5By similarityAdd BLAST12
Intramembranei118 – 124Pore-formingBy similarity7
Topological domaini125 – 133ExtracellularBy similarity9
Transmembranei134 – 155Helical; Name=M2By similarityAdd BLAST22
Topological domaini156 – 360CytoplasmicBy similarityAdd BLAST205

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Snowflake vitreoretinal degeneration (SVD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDevelopmental 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.
See also OMIM:193230
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_043509162R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 PublicationCorresponds to variant dbSNP:rs121918542Ensembl.1
Leber congenital amaurosis 16 (LCA16)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614186
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066488117Q → R in LCA16. 1 Publication1
Natural variantiVAR_066490241L → P in LCA16. 1 PublicationCorresponds to variant dbSNP:rs143607153Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNETi3769.
GeneReviewsiKCNJ13.
MalaCardsiKCNJ13.
MIMi193230. phenotype.
614186. phenotype.
OpenTargetsiENSG00000115474.
Orphaneti65. Leber congenital amaurosis.
91496. Snowflake vitreoretinal degeneration.
PharmGKBiPA30044.

Chemistry databases

ChEMBLiCHEMBL2146349.
GuidetoPHARMACOLOGYi443.

Polymorphism and mutation databases

BioMutaiKCNJ13.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001549661 – 360Inward rectifier potassium channel 13Add BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei201Phosphoserine; by PKC1 Publication1
Modified residuei287Phosphoserine; by PKA1 Publication1

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.
PeptideAtlasiO60928.
PRIDEiO60928.

PTM databases

iPTMnetiO60928.
PhosphoSitePlusiO60928.

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

BgeeiENSG00000115474.
CleanExiHS_KCNJ13.
ExpressionAtlasiO60928. baseline and differential.
GenevisibleiO60928. HS.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000233826.

Chemistry databases

BindingDBiO60928.

Structurei

3D structure databases

ProteinModelPortaliO60928.
SMRiO60928.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi119 – 124Selectivity filterBy similarity6

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3827. Eukaryota.
ENOG410XQ62. LUCA.
GeneTreeiENSGT00900000140895.
HOGENOMiHOG000237326.
HOVERGENiHBG006178.
InParanoidiO60928.
KOiK05006.
OMAiSSEECPF.
OrthoDBiEOG091G0DOU.
PhylomeDBiO60928.
TreeFamiTF313676.

Family and domain databases

Gene3Di2.60.40.1400. 1 hit.
InterProiView protein in InterPro
IPR014756. Ig_E-set.
IPR016449. K_chnl_inward-rec_Kir.
IPR013518. K_chnl_inward-rec_Kir_cyto.
IPR008062. KCNJ13.
PANTHERiPTHR11767. PTHR11767. 1 hit.
PTHR11767:SF3. PTHR11767:SF3. 1 hit.
PfamiView protein in Pfam
PF01007. IRK. 1 hit.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_066488117Q → R in LCA16. 1 Publication1
Natural variantiVAR_066489162R → Q Found in a patient with autosomal recessive retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs757304681Ensembl.1
Natural variantiVAR_043509162R → W in SVD; overexpression produces a non-selective cation current that depolarizes transfected cells and increases their fragility. 1 PublicationCorresponds to variant dbSNP:rs121918542Ensembl.1
Natural variantiVAR_016193175T → I2 PublicationsCorresponds to variant dbSNP:rs1801251Ensembl.1
Natural variantiVAR_066490241L → P in LCA16. 1 PublicationCorresponds to variant dbSNP:rs143607153Ensembl.1
Natural variantiVAR_066491276E → A Found in a patient with autosomal recessive retinitis pigmentosa. 1 PublicationCorresponds to variant dbSNP:rs374411396Ensembl.1
Natural variantiVAR_043510290P → Q1 PublicationCorresponds to variant dbSNP:rs17853727Ensembl.1
Natural variantiVAR_043511309G → C1 PublicationCorresponds to variant dbSNP:rs17857137Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04262776 – 94YVLAE…DAPPE → CFCGEDCPAKKSSFFNSLY in isoform 2. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_04262895 – 360Missing in isoform 2. 2 PublicationsAdd BLAST266

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.4. human. [O60928-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCJ13_HUMAN
AccessioniPrimary (citable) accession number: O60928
Secondary accession number(s): A0PGH1
, O76023, Q53SA1, Q8N3Y4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: August 1, 1998
Last modified: October 25, 2017
This is version 163 of the entry and version 1 of the sequence. See 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