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Q9NPC2 (KCNK9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KCNK9
Synonyms:TASK3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length374 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

pH-dependent, voltage-insensitive, background potassium channel protein. Ref.2 Ref.3

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

Mainly found in the cerebellum. Also found in adrenal gland, kidney and lung. Ref.2 Ref.3

Involvement in disease

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. Ref.7

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.

Sequence similarities

Belongs to the two pore domain potassium channel (TC 1.A.1.8) family. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 374374Potassium channel subfamily K member 9
PRO_0000101754

Regions

Topological domain1 – 88Cytoplasmic Potential
Transmembrane9 – 2921Helical; Potential
Topological domain30 – 8859Extracellular Potential
Intramembrane89 – 10113Pore-forming; Name=Pore-forming 1; Potential
Topological domain102 – 1076Extracellular Potential
Transmembrane108 – 12821Helical; Potential
Topological domain129 – 15830Cytoplasmic Potential
Transmembrane159 – 17921Helical; Potential
Topological domain180 – 19415Extracellular Potential
Intramembrane195 – 20713Pore-forming; Name=Pore-forming 2; Potential
Topological domain208 – 21811Extracellular Potential
Transmembrane219 – 23921Helical; Potential
Topological domain240 – 374135Cytoplasmic Potential

Amino acid modifications

Glycosylation531N-linked (GlcNAc...) Potential

Natural variations

Natural variant2361G → R in BIBAS; inactive. Ref.7
VAR_054373

Sequences

Sequence LengthMass (Da)Tools
Q9NPC2 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 8A19EAEE5A4D7F38

FASTA37442,264
        10         20         30         40         50         60 
MKRQNVRTLS LIVCTFTYLL VGAAVFDALE SDHEMREEEK LKAEEIRIKG KYNISSEDYR 

        70         80         90        100        110        120 
QLELVILQSE PHRAGVQWKF AGSFYFAITV ITTIGYGHAA PGTDAGKAFC MFYAVLGIPL 

       130        140        150        160        170        180 
TLVMFQSLGE RMNTFVRYLL KRIKKCCGMR NTDVSMENMV TVGFFSCMGT LCIGAAAFSQ 

       190        200        210        220        230        240 
CEEWSFFHAY YYCFITLTTI GFGDYVALQT KGALQKKPLY VAFSFMYILV GLTVIGAFLN 

       250        260        270        280        290        300 
LVVLRFLTMN SEDERRDAEE RASLAGNRNS MVIHIPEEPR PSRPRYKADV PDLQSVCSCT 

       310        320        330        340        350        360 
CYRSQDYGGR SVAPQNSFSA KLAPHYFHSI SYKIEEISPS TLKNSLFPSP ISSISPGLHS 

       370 
FTDHQRLMKR RKSV 

« Hide

References

« Hide 'large scale' references
[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]"Genomic amplification and oncogenic properties of the KCNK9 potassium channel gene."
Mu D., Chen L., Zhang X., See L.-H., Koch C.M., Yen C., Tong J.J., Spiegel L., Nguyen K.C.Q., Servoss A., Peng Y., Pei L., Marks J.R., Lowe S., Hoey T., Jan L.Y., McCombie W.R., Wigler M.H., Powers S.
Cancer Cell 3:297-302(2003) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS6377.1.
RefSeqNP_001269463.1. NM_001282534.1.
UniGeneHs.493037.
Hs.553147.
Hs.664608.

3D structure databases

PDBe
RCSB-PDB
PDBj
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[»]
ProteinModelPortalQ9NPC2.
SMRQ9NPC2. Positions 22-242.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119456. 2 interactions.
STRING9606.ENSP00000302166.

Chemistry

ChEMBLCHEMBL2321614.
GuidetoPHARMACOLOGY520.

PTM databases

PhosphoSiteQ9NPC2.

Polymorphism databases

DMDM13431426.

Proteomic databases

PaxDbQ9NPC2.
PRIDEQ9NPC2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303015; ENSP00000302166; ENSG00000169427.
ENST00000520439; ENSP00000430676; ENSG00000169427.
ENST00000522317; ENSP00000429847; ENSG00000169427.
GeneID51305.
KEGGhsa:51305.
UCSCuc003yvf.1. human.

Organism-specific databases

CTD51305.
GeneCardsGC08M140693.
HGNCHGNC:6283. KCNK9.
MIM605874. gene.
612292. phenotype.
neXtProtNX_Q9NPC2.
Orphanet166108. intellectual disability, Birk-Barel type.
PharmGKBPA30065.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259548.
HOGENOMHOG000231463.
HOVERGENHBG052239.
InParanoidQ9NPC2.
KOK04919.
OMAMRRRKSV.
OrthoDBEOG7B05DC.
PhylomeDBQ9NPC2.
TreeFamTF313947.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ9NPC2.
CleanExHS_KCNK9.
GenevestigatorQ9NPC2.

Family and domain databases

InterProIPR003280. 2pore_dom_K_chnl.
IPR013099. 2pore_dom_K_chnl_dom.
IPR003092. 2pore_dom_K_chnl_TASK.
IPR005407. KCNK9.
[Graphical view]
PfamPF07885. Ion_trans_2. 2 hits.
[Graphical view]
PIRSFPIRSF038061. K_channel_subfamily_K_type. 1 hit.
PRINTSPR01333. 2POREKCHANEL.
PR01585. TASK3CHANNEL.
PR01095. TASKCHANNEL.
ProtoNetSearch...

Other

EvolutionaryTraceQ9NPC2.
GeneWikiKCNK9.
GenomeRNAi51305.
NextBio54617.
PROQ9NPC2.
SOURCESearch...

Entry information

Entry nameKCNK9_HUMAN
AccessionPrimary (citable) accession number: Q9NPC2
Secondary accession number(s): Q2M290, Q540F2
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM