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Q9NR82 (KCNQ5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Potassium voltage-gated channel subfamily KQT member 5
Alternative name(s):
KQT-like 5
Potassium channel subunit alpha KvLQT5
Voltage-gated potassium channel subunit Kv7.5
Gene names
Name:KCNQ5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length932 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels were coexpressed with M1 muscarinic receptors.

Subunit structure

Heteromultimer with KCNQ3.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable levels in medulla, cerebellum and thalamus.

Domain

The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position By similarity.

Sequence similarities

Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 sub-subfamily. [View classification]

Sequence caution

The sequence BAG61495.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NR82-1)

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.
Isoform 2 (identifier: Q9NR82-2)

The sequence of this isoform differs from the canonical sequence as follows:
     407-416: KKEQGEASSS → N
Isoform 3 (identifier: Q9NR82-3)

The sequence of this isoform differs from the canonical sequence as follows:
     407-416: KKEQGEASSS → NKFCSNKQKLFRMYTSRKQS
Isoform 4 (identifier: Q9NR82-4)

The sequence of this isoform differs from the canonical sequence as follows:
     416-427: SQKLSFKERVRM → RFVISLLLHVCL
     428-932: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9NR82-5)

The sequence of this isoform differs from the canonical sequence as follows:
     416-525: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 932932Potassium voltage-gated channel subfamily KQT member 5
PRO_0000054040

Regions

Transmembrane126 – 14621Helical; Name=Segment S1; Potential
Transmembrane157 – 17721Helical; Name=Segment S2; Potential
Transmembrane201 – 22121Helical; Name=Segment S3; Potential
Transmembrane230 – 25223Helical; Voltage-sensor; Name=Segment S4; Potential
Transmembrane267 – 28721Helical; Name=Segment S5; Potential
Intramembrane299 – 31921Pore-forming; Name=Segment H5; Potential
Transmembrane326 – 34621Helical; Name=Segment S6; Potential
Motif311 – 3166Selectivity filter By similarity

Natural variations

Alternative sequence407 – 41610KKEQGEASSS → N in isoform 2.
VSP_001014
Alternative sequence407 – 41610KKEQGEASSS → NKFCSNKQKLFRMYTSRKQS in isoform 3.
VSP_001015
Alternative sequence416 – 525110Missing in isoform 5.
VSP_045487
Alternative sequence416 – 42712SQKLS…ERVRM → RFVISLLLHVCL in isoform 4.
VSP_022318
Alternative sequence428 – 932505Missing in isoform 4.
VSP_022319
Natural variant1911W → G in a colorectal cancer sample; somatic mutation. Ref.9
VAR_035772
Natural variant2441R → C in a colorectal cancer sample; somatic mutation. Ref.9
VAR_035773

Experimental info

Sequence conflict92 – 932KP → SR in AAF91335. Ref.1
Sequence conflict1091R → Q in BAG61495. Ref.4
Sequence conflict1291Y → H in AAF73446. Ref.7
Sequence conflict7271A → V in AAF73446. Ref.7
Sequence conflict7991T → P in AAF73446. Ref.7
Sequence conflict8571S → R in AAF73446. Ref.7
Sequence conflict9091R → Q in AAF73446. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 9, 2007. Version 3.
Checksum: CB41C243FD2B00FC

FASTA932102,179
        10         20         30         40         50         60 
MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL 

        70         80         90        100        110        120 
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE 

       130        140        150        160        170        180 
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW 

       190        200        210        220        230        240 
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL 

       250        260        270        280        290        300 
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD 

       310        320        330        340        350        360 
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ 

       370        380        390        400        410        420 
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSSQKLS 

       430        440        450        460        470        480 
FKERVRMASP RGQSIKSRQA SVGDRRSPST DITAEGSPTK VQKSWSFNDR TRFRPSLRLK 

       490        500        510        520        530        540 
SSQPKPVIDA DTALGTDDVY DEKGCQCDVS VEDLTPPLKT VIRAIRIMKF HVAKRKFKET 

       550        560        570        580        590        600 
LRPYDVKDVI EQYSAGHLDM LCRIKSLQTR VDQILGKGQI TSDKKSREKI TAEHETTDDL 

       610        620        630        640        650        660 
SMLGRVVKVE KQVQSIESKL DCLLDIYQQV LRKGSASALA LASFQIPPFE CEQTSDYQSP 

       670        680        690        700        710        720 
VDSKDLSGSA QNSGCLSRST SANISRGLQF ILTPNEFSAQ TFYALSPTMH SQATQVPISQ 

       730        740        750        760        770        780 
SDGSAVAATN TIANQINTAP KPAAPTTLQI PPPLPAIKHL PRPETLHPNP AGLQESISDV 

       790        800        810        820        830        840 
TTCLVASKEN VQVAQSNLTK DRSMRKSFDM GGETLLSVCP MVPKDLGKSL SVQNLIRSTE 

       850        860        870        880        890        900 
ELNIQLSGSE SSGSRGSQDF YPKWRESKLF ITDEEVGPEE TETDTFDAAP QPAREAAFAS 

       910        920        930 
DSLRTGRSRS SQSICKAGES TDALSLPHVK LK 

« Hide

Isoform 2 [UniParc].

Checksum: 3471634490A35B18
Show »

FASTA923101,261
Isoform 3 [UniParc].

Checksum: F7580704F95D1CC3
Show »

FASTA942103,624
Isoform 4 [UniParc].

Checksum: 175F91B7BB48836B
Show »

FASTA42746,943
Isoform 5 [UniParc].

Checksum: EC339886F1755506
Show »

FASTA82289,987

References

« Hide 'large scale' references
[1]"Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity."
Lerche C., Scherer C.R., Seebohm G., Derst C., Wei A.D., Busch A.E., Steinmeyer K.
J. Biol. Chem. 275:22395-22400(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"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] (ISOFORMS 2 AND 4).
Tissue: Placenta.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 19-822 (ISOFORM 5).
Tissue: Brain.
[5]"KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents."
Schroeder B.C., Hechenberger M., Weinreich F., Kubisch C., Jentsch T.J.
J. Biol. Chem. 275:24089-24095(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 36-932 (ISOFORMS 1; 2 AND 3).
Tissue: Brain.
[6]"The new voltage gated potassium channel KCNQ5 and early infantile convulsions."
Kananura C., Biervert B., Hechenberger M., Engels H., Steinlein O.K.
Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 36-932.
[7]"A new gene of the voltage-gated potassium channel KCNQ family, KCNQ5, is a candidate gene for retinal disorders."
Kniazeva M., Han M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 72-932 (ISOFORM 1).
Tissue: Brain and Retina.
[8]"Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells."
Wickenden A.D., Zou A., Wagoner P.K., Jegla T.
Br. J. Pharmacol. 132:381-384(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION, ACTIVATION BY RETICABINE.
[9]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-191 AND CYS-244.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF249278 mRNA. Translation: AAF91335.1.
AL049845 Genomic DNA. No translation available.
AL360232 Genomic DNA. No translation available.
AL360236 Genomic DNA. No translation available.
AL365232 Genomic DNA. No translation available.
FO393414 Genomic DNA. No translation available.
AL513522 Genomic DNA. No translation available.
AL671823 Genomic DNA. No translation available.
BC050689 mRNA. Translation: AAH50689.1.
BC117359 mRNA. Translation: AAI17360.1.
BC143554 mRNA. Translation: AAI43555.1.
AK299550 mRNA. Translation: BAG61495.1. Different initiation.
AF202977 mRNA. Translation: AAF69797.1.
AJ272506 expand/collapse EMBL AC list , AJ272507, AJ272508, AJ272509, AJ272510, AJ272511, AJ272512, AJ272513, AJ272514, AJ272515, AJ272516, AJ272517, AJ272518, AJ272519 Genomic DNA. Translation: CAC88112.1.
AF263835 mRNA. Translation: AAF73446.1.
RefSeqNP_001153602.1. NM_001160130.1.
NP_001153604.1. NM_001160132.1.
NP_001153606.1. NM_001160134.1.
NP_062816.2. NM_019842.3.
UniGeneHs.445324.

3D structure databases

ProteinModelPortalQ9NR82.
SMRQ9NR82. Positions 127-361, 512-537, 598-627.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121149. 2 interactions.
STRING9606.ENSP00000359425.

Chemistry

BindingDBQ9NR82.
ChEMBLCHEMBL2925.
GuidetoPHARMACOLOGY564.

PTM databases

PhosphoSiteQ9NR82.

Polymorphism databases

DMDM122065285.

Proteomic databases

PaxDbQ9NR82.
PRIDEQ9NR82.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370392; ENSP00000359419; ENSG00000185760. [Q9NR82-4]
ENST00000370398; ENSP00000359425; ENSG00000185760. [Q9NR82-1]
ENST00000402622; ENSP00000385501; ENSG00000185760. [Q9NR82-3]
ENST00000403813; ENSP00000384453; ENSG00000185760. [Q9NR82-2]
ENST00000414165; ENSP00000409861; ENSG00000185760. [Q9NR82-5]
GeneID56479.
KEGGhsa:56479.
UCSCuc003pgj.4. human. [Q9NR82-4]
uc003pgk.3. human. [Q9NR82-1]
uc010kat.3. human. [Q9NR82-2]
uc011dyi.2. human. [Q9NR82-3]

Organism-specific databases

CTD56479.
GeneCardsGC06P073331.
HGNCHGNC:6299. KCNQ5.
HPAHPA016655.
MIM607357. gene.
neXtProtNX_Q9NR82.
PharmGKBPA30077.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1226.
HOVERGENHBG059014.
KOK04930.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

ArrayExpressQ9NR82.
BgeeQ9NR82.
CleanExHS_KCNQ5.
GenevestigatorQ9NR82.

Family and domain databases

InterProIPR005821. Ion_trans_dom.
IPR003091. K_chnl.
IPR003937. K_chnl_volt-dep_KCNQ.
IPR013821. K_chnl_volt-dep_KCNQ_C.
IPR028325. VG_K_chnl.
[Graphical view]
PANTHERPTHR11537. PTHR11537. 1 hit.
PfamPF00520. Ion_trans. 1 hit.
PF03520. KCNQ_channel. 1 hit.
[Graphical view]
PRINTSPR00169. KCHANNEL.
PR01459. KCNQCHANNEL.
ProtoNetSearch...

Other

GeneWikiKCNQ5.
GenomeRNAi56479.
NextBio62021.
PROQ9NR82.
SOURCESearch...

Entry information

Entry nameKCNQ5_HUMAN
AccessionPrimary (citable) accession number: Q9NR82
Secondary accession number(s): B4DS33 expand/collapse secondary AC list , B5MC83, B7ZL37, F5GZV0, Q17RE1, Q5VVP3, Q86W40, Q9NRN0, Q9NYA6
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: January 9, 2007
Last modified: March 19, 2014
This is version 116 of the entry and version 3 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

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 6

Human chromosome 6: entries, gene names and cross-references to MIM