Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Inward rectifier potassium channel 13

Gene

KCNJ13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • inward rectifier potassium channel activity Source: GO_Central

GO - Biological processi

  • potassium ion import Source: GO_Central
  • potassium ion transport Source: UniProtKB
  • regulation of ion transmembrane transport Source: UniProtKB-KW

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
MIMi603208 gene
neXtProtiNX_O60928

Subcellular locationi

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:rs121918542EnsemblClinVar.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:rs143607153EnsemblClinVar.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
ProteomicsDBi49673
49674 [O60928-2]

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 Expressed in 91 organ(s), highest expression level in pigmented layer of retina
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
GeneTreeiENSGT00930000151007
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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JWD6C9JWD6_HUMAN
Inward rectifier potassium channel ...
KCNJ13
184Annotation score:
H7C4D1H7C4D1_HUMAN
Inward rectifier potassium channel ...
KCNJ13
137Annotation score:

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:rs121918542EnsemblClinVar.1
Natural variantiVAR_016193175T → I2 PublicationsCorresponds to variant dbSNP:rs1801251EnsemblClinVar.1
Natural variantiVAR_066490241L → P in LCA16. 1 PublicationCorresponds to variant dbSNP:rs143607153EnsemblClinVar.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

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
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

3D structure databases

ProteinModelPortaliO60928
SMRiO60928
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000233826

Chemistry databases

BindingDBiO60928
ChEMBLiCHEMBL2146349
GuidetoPHARMACOLOGYi443

Protein family/group databases

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

PTM databases

iPTMnetiO60928
PhosphoSitePlusiO60928

Polymorphism and mutation databases

BioMutaiKCNJ13

Proteomic databases

PaxDbiO60928
PeptideAtlasiO60928
PRIDEiO60928
ProteomicsDBi49673
49674 [O60928-2]

Protocols and materials databases

DNASUi3769
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi3769
DisGeNETi3769
EuPathDBiHostDB:ENSG00000115474.6
GeneCardsiKCNJ13
GeneReviewsiKCNJ13
H-InvDBiHIX0002929
HGNCiHGNC:6259 KCNJ13
MalaCardsiKCNJ13
MIMi193230 phenotype
603208 gene
614186 phenotype
neXtProtiNX_O60928
OpenTargetsiENSG00000115474
Orphaneti65 Leber congenital amaurosis
91496 Snowflake vitreoretinal degeneration
PharmGKBiPA30044
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3827 Eukaryota
ENOG410XQ62 LUCA
GeneTreeiENSGT00930000151007
HOGENOMiHOG000237326
HOVERGENiHBG006178
InParanoidiO60928
KOiK05006
OMAiSSEECPF
OrthoDBiEOG091G0DOU
PhylomeDBiO60928
TreeFamiTF313676

Enzyme and pathway databases

SIGNORiO60928

Miscellaneous databases

GeneWikiiKCNJ13
GenomeRNAii3769
PROiPR:O60928
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115474 Expressed in 91 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_KCNJ13
ExpressionAtlasiO60928 baseline and differential
GenevisibleiO60928 HS

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
ProtoNetiSearch...

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: November 7, 2018
This is version 168 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again