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Q9NPC2

- KCNK9_HUMAN

UniProt

Q9NPC2 - KCNK9_HUMAN

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Protein

Potassium channel subfamily K member 9

Gene
KCNK9, TASK3
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

pH-dependent, voltage-insensitive, background potassium channel protein.2 Publications

GO - Molecular functioni

  1. potassium channel activity Source: UniProtKB-KW
  2. voltage-gated ion channel activity Source: UniProtKB-KW

GO - Biological processi

  1. cochlea development Source: Ensembl
  2. potassium ion transport Source: UniProtKB
  3. synaptic transmission Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Potassium channel, Voltage-gated channel

Keywords - Biological processi

Ion transport, Potassium transport, Transport

Keywords - Ligandi

Potassium

Enzyme and pathway databases

ReactomeiREACT_75899. TWIK-releated acid-sensitive K+ channel (TASK).

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium channel subfamily K member 9
Alternative name(s):
Acid-sensitive potassium channel protein TASK-3
TWIK-related acid-sensitive K(+) channel 3
Two pore potassium channel KT3.2
Short name:
Two pore K(+) channel KT3.2
Gene namesi
Name:KCNK9
Synonyms:TASK3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:6283. KCNK9.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 88Cytoplasmic Reviewed prediction
Transmembranei9 – 2921Helical; Reviewed predictionAdd
BLAST
Topological domaini30 – 8859Extracellular Reviewed predictionAdd
BLAST
Intramembranei89 – 10113Pore-forming; Name=Pore-forming 1; Reviewed predictionAdd
BLAST
Topological domaini102 – 1076Extracellular Reviewed prediction
Transmembranei108 – 12821Helical; Reviewed predictionAdd
BLAST
Topological domaini129 – 15830Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei159 – 17921Helical; Reviewed predictionAdd
BLAST
Topological domaini180 – 19415Extracellular Reviewed predictionAdd
BLAST
Intramembranei195 – 20713Pore-forming; Name=Pore-forming 2; Reviewed predictionAdd
BLAST
Topological domaini208 – 21811Extracellular Reviewed predictionAdd
BLAST
Transmembranei219 – 23921Helical; Reviewed predictionAdd
BLAST
Topological domaini240 – 374135Cytoplasmic Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: Reactome
  3. synaptic vesicle Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]: A syndrome characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti236 – 2361G → R in BIBAS; inactive. 1 Publication
VAR_054373

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi612292. phenotype.
Orphaneti166108. intellectual disability, Birk-Barel type.
PharmGKBiPA30065.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 374374Potassium channel subfamily K member 9PRO_0000101754Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi53 – 531N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NPC2.
PRIDEiQ9NPC2.

PTM databases

PhosphoSiteiQ9NPC2.

Expressioni

Tissue specificityi

Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung.2 Publications

Gene expression databases

BgeeiQ9NPC2.
CleanExiHS_KCNK9.
GenevestigatoriQ9NPC2.

Interactioni

Protein-protein interaction databases

BioGridi119456. 2 interactions.
STRINGi9606.ENSP00000302166.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3P1NX-ray1.40P369-374[»]
3P1OX-ray1.90P369-374[»]
3P1PX-ray1.95P369-374[»]
3P1QX-ray1.70P369-374[»]
3P1RX-ray1.70P369-374[»]
3P1SX-ray1.65P369-374[»]
3SMKX-ray2.10P369-374[»]
3SMLX-ray1.90P370-374[»]
3SMMX-ray2.00P369-374[»]
3SMNX-ray2.00P369-374[»]
3SMOX-ray1.80P369-374[»]
3SPRX-ray1.99P369-374[»]
3UX0X-ray1.75P369-374[»]
4FR3X-ray1.90P369-374[»]
ProteinModelPortaliQ9NPC2.
SMRiQ9NPC2. Positions 22-242.

Miscellaneous databases

EvolutionaryTraceiQ9NPC2.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG259548.
HOGENOMiHOG000231463.
HOVERGENiHBG052239.
InParanoidiQ9NPC2.
KOiK04919.
OMAiMRRRKSV.
OrthoDBiEOG7B05DC.
PhylomeDBiQ9NPC2.
TreeFamiTF313947.

Family and domain databases

InterProiIPR003280. 2pore_dom_K_chnl.
IPR013099. 2pore_dom_K_chnl_dom.
IPR003092. 2pore_dom_K_chnl_TASK.
IPR005407. KCNK9.
[Graphical view]
PfamiPF07885. Ion_trans_2. 2 hits.
[Graphical view]
PIRSFiPIRSF038061. K_channel_subfamily_K_type. 1 hit.
PRINTSiPR01333. 2POREKCHANEL.
PR01585. TASK3CHANNEL.
PR01095. TASKCHANNEL.

Sequencei

Sequence statusi: Complete.

Q9NPC2-1 [UniParc]FASTAAdd to Basket

« Hide

MKRQNVRTLS LIVCTFTYLL VGAAVFDALE SDHEMREEEK LKAEEIRIKG    50
KYNISSEDYR QLELVILQSE PHRAGVQWKF AGSFYFAITV ITTIGYGHAA 100
PGTDAGKAFC MFYAVLGIPL TLVMFQSLGE RMNTFVRYLL KRIKKCCGMR 150
NTDVSMENMV TVGFFSCMGT LCIGAAAFSQ CEEWSFFHAY YYCFITLTTI 200
GFGDYVALQT KGALQKKPLY VAFSFMYILV GLTVIGAFLN LVVLRFLTMN 250
SEDERRDAEE RASLAGNRNS MVIHIPEEPR PSRPRYKADV PDLQSVCSCT 300
CYRSQDYGGR SVAPQNSFSA KLAPHYFHSI SYKIEEISPS TLKNSLFPSP 350
ISSISPGLHS FTDHQRLMKR RKSV 374
Length:374
Mass (Da):42,264
Last modified:October 1, 2000 - v1
Checksum:i8A19EAEE5A4D7F38
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti236 – 2361G → R in BIBAS; inactive. 1 Publication
VAR_054373

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF212829 mRNA. Translation: AAF63708.1.
AF248241 mRNA. Translation: AAG31730.1.
AF257080 mRNA. Translation: AAG33126.1.
AY190605 mRNA. Translation: AAO38739.1.
AF279809 mRNA. Translation: AAF85982.1.
BC075079 mRNA. Translation: AAH75079.1.
BC075080 mRNA. Translation: AAH75080.1.
BC112063 mRNA. Translation: AAI12064.1.
BC112065 mRNA. Translation: AAI12066.1.
CCDSiCCDS6377.1.
RefSeqiNP_001269463.1. NM_001282534.1.
UniGeneiHs.493037.
Hs.553147.
Hs.664608.

Genome annotation databases

EnsembliENST00000303015; ENSP00000302166; ENSG00000169427.
ENST00000520439; ENSP00000430676; ENSG00000169427.
ENST00000522317; ENSP00000429847; ENSG00000169427.
GeneIDi51305.
KEGGihsa:51305.
UCSCiuc003yvf.1. human.

Polymorphism databases

DMDMi13431426.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF212829 mRNA. Translation: AAF63708.1 .
AF248241 mRNA. Translation: AAG31730.1 .
AF257080 mRNA. Translation: AAG33126.1 .
AY190605 mRNA. Translation: AAO38739.1 .
AF279809 mRNA. Translation: AAF85982.1 .
BC075079 mRNA. Translation: AAH75079.1 .
BC075080 mRNA. Translation: AAH75080.1 .
BC112063 mRNA. Translation: AAI12064.1 .
BC112065 mRNA. Translation: AAI12066.1 .
CCDSi CCDS6377.1.
RefSeqi NP_001269463.1. NM_001282534.1.
UniGenei Hs.493037.
Hs.553147.
Hs.664608.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3P1N X-ray 1.40 P 369-374 [» ]
3P1O X-ray 1.90 P 369-374 [» ]
3P1P X-ray 1.95 P 369-374 [» ]
3P1Q X-ray 1.70 P 369-374 [» ]
3P1R X-ray 1.70 P 369-374 [» ]
3P1S X-ray 1.65 P 369-374 [» ]
3SMK X-ray 2.10 P 369-374 [» ]
3SML X-ray 1.90 P 370-374 [» ]
3SMM X-ray 2.00 P 369-374 [» ]
3SMN X-ray 2.00 P 369-374 [» ]
3SMO X-ray 1.80 P 369-374 [» ]
3SPR X-ray 1.99 P 369-374 [» ]
3UX0 X-ray 1.75 P 369-374 [» ]
4FR3 X-ray 1.90 P 369-374 [» ]
ProteinModelPortali Q9NPC2.
SMRi Q9NPC2. Positions 22-242.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 119456. 2 interactions.
STRINGi 9606.ENSP00000302166.

Chemistry

ChEMBLi CHEMBL2321614.
GuidetoPHARMACOLOGYi 520.

PTM databases

PhosphoSitei Q9NPC2.

Polymorphism databases

DMDMi 13431426.

Proteomic databases

PaxDbi Q9NPC2.
PRIDEi Q9NPC2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303015 ; ENSP00000302166 ; ENSG00000169427 .
ENST00000520439 ; ENSP00000430676 ; ENSG00000169427 .
ENST00000522317 ; ENSP00000429847 ; ENSG00000169427 .
GeneIDi 51305.
KEGGi hsa:51305.
UCSCi uc003yvf.1. human.

Organism-specific databases

CTDi 51305.
GeneCardsi GC08M140693.
HGNCi HGNC:6283. KCNK9.
MIMi 605874. gene.
612292. phenotype.
neXtProti NX_Q9NPC2.
Orphaneti 166108. intellectual disability, Birk-Barel type.
PharmGKBi PA30065.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG259548.
HOGENOMi HOG000231463.
HOVERGENi HBG052239.
InParanoidi Q9NPC2.
KOi K04919.
OMAi MRRRKSV.
OrthoDBi EOG7B05DC.
PhylomeDBi Q9NPC2.
TreeFami TF313947.

Enzyme and pathway databases

Reactomei REACT_75899. TWIK-releated acid-sensitive K+ channel (TASK).

Miscellaneous databases

EvolutionaryTracei Q9NPC2.
GeneWikii KCNK9.
GenomeRNAii 51305.
NextBioi 54617.
PROi Q9NPC2.
SOURCEi Search...

Gene expression databases

Bgeei Q9NPC2.
CleanExi HS_KCNK9.
Genevestigatori Q9NPC2.

Family and domain databases

InterProi IPR003280. 2pore_dom_K_chnl.
IPR013099. 2pore_dom_K_chnl_dom.
IPR003092. 2pore_dom_K_chnl_TASK.
IPR005407. KCNK9.
[Graphical view ]
Pfami PF07885. Ion_trans_2. 2 hits.
[Graphical view ]
PIRSFi PIRSF038061. K_channel_subfamily_K_type. 1 hit.
PRINTSi PR01333. 2POREKCHANEL.
PR01585. TASK3CHANNEL.
PR01095. TASKCHANNEL.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "TASK-3, a novel tandem pore domain acid-sensitive K+ channel. An extracellular histidine as pH sensor."
    Rajan S., Wischmeyer E., Liu G.X., Preisig-Mueller R., Daut J., Karschin A., Derst C.
    J. Biol. Chem. 275:16650-16657(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Cloning, localisation and functional expression of a novel human, cerebellum specific, two pore domain potassium channel."
    Chapman C.G., Meadows H.J., Godden R.J., Campbell D.A., Duckworth M., Kelsell R.E., Murdock P.R., Randall A.D., Rennie G.I., Gloger I.S.
    Brain Res. Mol. Brain Res. 82:74-83(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    Tissue: Cerebellum.
  3. "KT3.2 and KT3.3, two novel human two-pore K(+) channels closely related to TASK-1."
    Vega-Saenz de Miera E., Lau D.H.P., Zhadina M., Pountney D., Coetzee W.A., Rudy B.
    J. Neurophysiol. 86:130-142(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
  4. Cited for: NUCLEOTIDE SEQUENCE [MRNA], OVEREXPRESSION IN BREAST CANCERS.
  5. "Human Task-3, a novel 2P domain potassium channel related to Task."
    Girard C., Lesage F., Tinel N., Lazdunski M.
    Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  6. "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].
    Tissue: Brain.
  7. "Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9."
    Barel O., Shalev S.A., Ofir R., Cohen A., Zlotogora J., Shorer Z., Mazor G., Finer G., Khateeb S., Zilberberg N., Birk O.S.
    Am. J. Hum. Genet. 83:193-199(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BIBAS ARG-236, CHARACTERIZATION OF VARIANT BIBAS ARG-236.

Entry informationi

Entry nameiKCNK9_HUMAN
AccessioniPrimary (citable) accession number: Q9NPC2
Secondary accession number(s): Q2M290, Q540F2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 118 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

Miscellaneous

Inhibited by phorbol 12-myristate 13-acetate (PMA). TASK-3 current is strongly decreased in the presence of an extracellular pH inferior to 7.0.
Overexpressed in a high proportion of breast cancers. May confer resistance to growth factor deprivation and hypoxia, thereby promoting tumor cell survival in poorly oxygenated areas of solid tumors.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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