Potassium channel subfamily K member 9

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Q9NPC2 (KCNK9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 106. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

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 names

Name:	KCNK9
Synonyms:	TASK3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	374 AA.
Sequence status	Complete.
Protein existence	Evidence 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]

Ontologies

Keywords
Biological process	Ion transport Potassium transport Transport
Cellular component	Membrane
Disease	Disease mutation Mental retardation
Domain	Transmembrane Transmembrane helix
Ligand	Potassium
Molecular function	Ion channel Potassium channel Voltage-gated channel
PTM	Glycoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cochlea development Inferred from electronic annotation. Source: Compara synaptic transmission Traceable author statement. Source: Reactome
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Traceable author statement. Source: Reactome synaptic vesicle Inferred from electronic annotation. Source: Compara
Molecular_function	potassium channel activity Non-traceable author statement. Source: UniProtKB voltage-gated ion channel activity Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 374

374

Potassium channel subfamily K member 9

PRO_0000101754

Regions

Topological domain

1 – 8

Cytoplasmic Potential

Transmembrane

9 – 29

Helical; Potential

Topological domain

30 – 88

Extracellular Potential

Intramembrane

89 – 101

Pore-forming; Name=Pore-forming 1; Potential

Topological domain

102 – 107

Extracellular Potential

Transmembrane

108 – 128

Helical; Potential

Topological domain

129 – 158

Cytoplasmic Potential

Transmembrane

159 – 179

Helical; Potential

Topological domain

180 – 194

Extracellular Potential

Intramembrane

195 – 207

Pore-forming; Name=Pore-forming 2; Potential

Topological domain

208 – 218

Extracellular Potential

Transmembrane

219 – 239

Helical; Potential

Topological domain

240 – 374

135

Cytoplasmic Potential

Amino acid modifications

Glycosylation

N-linked (GlcNAc...) Potential

Natural variations

Natural variant

236

G → R in BIBAS; inactive. Ref.7

VAR_054373

Sequences

Sequence

Length

Mass (Da)

Tools

Q9NPC2 [UniParc].

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

FASTA

374

42,264

        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' referencesShow '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.

IPI

IPI00014792.

RefSeq

NP_057685.1. NM_016601.2.

UniGene

Hs.493037.

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

ProteinModelPortal

Q9NPC2.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000302166.

PTM databases

PhosphoSite

Q9NPC2.

Polymorphism databases

DMDM

13431426.

Proteomic databases

PaxDb

Q9NPC2.

PRIDE

Q9NPC2.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000303015; ENSP00000302166; ENSG00000169427.
ENST00000520439; ENSP00000430676; ENSG00000169427.
ENST00000522317; ENSP00000429847; ENSG00000169427.

GeneID

51305.

KEGG

hsa:51305.

UCSC

uc003yvf.1. human.

Organism-specific databases

CTD

51305.

GeneCards

GC08M140693.

HGNC

HGNC:6283. KCNK9.

MIM

605874. gene.
612292. phenotype.

neXtProt

NX_Q9NPC2.

Orphanet

166108. Intellectual deficit, Birk-Barel type.

PharmGKB

PA30065.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG259548.

HOGENOM

HOG000231463.

HOVERGEN

HBG052239.

InParanoid

Q9NPC2.

K04919.

OMA

FTDNHRL.

OrthoDB

EOG4VX25V.

PhylomeDB

Q9NPC2.

Enzyme and pathway databases

Reactome

REACT_13685. Neuronal System.

Gene expression databases

Bgee

Q9NPC2.

CleanEx

HS_KCNK9.

Genevestigator

Q9NPC2.

GermOnline

ENSG00000169427. Homo sapiens.

Family and domain databases

InterPro

IPR003280. 2pore_dom_K_chnl.
IPR003092. 2pore_dom_K_chnl_TASK.
IPR022306. 2pore_dom_K_chnl_TASK/TWIK.
IPR005407. 2pore_dom_K_chnl_TASK3.
IPR013099. Ion_trans_2.
[Graphical view]

PANTHER

PTHR11003:SF17. PTHR11003:SF17. 1 hit.

Pfam

PF07885. Ion_trans_2. 2 hits.
[Graphical view]

PIRSF

PIRSF038061. K_channel_subfamily_K_type. 1 hit.

PRINTS

PR01333. 2POREKCHANEL.
PR01585. TASK3CHANNEL.
PR01095. TASKCHANNEL.

ProtoNet

Search...

Other

EvolutionaryTrace

Q9NPC2.

GenomeRNAi

51305.

NextBio

54617.

SOURCE

Search...

Entry information

Entry name

KCNK9_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 106 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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

Human chromosome 8

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents