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Q9UQ05

- KCNH4_HUMAN

UniProt

Q9UQ05 - KCNH4_HUMAN

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Protein

Potassium voltage-gated channel subfamily H member 4

Gene

KCNH4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi556 – 671116cNMPAdd
BLAST

GO - Molecular functioni

  1. phosphorelay sensor kinase activity Source: InterPro
  2. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. potassium ion transmembrane transport Source: RefGenome
  2. potassium ion transport Source: ProtInc
  3. regulation of membrane potential Source: RefGenome
  4. 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_75770. Voltage gated Potassium channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Potassium voltage-gated channel subfamily H member 4
Alternative name(s):
Brain-specific eag-like channel 2
Short name:
BEC2
Ether-a-go-go-like potassium channel 1
Short name:
ELK channel 1
Short name:
ELK1
Voltage-gated potassium channel subunit Kv12.3
Gene namesi
Name:KCNH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:6253. KCNH4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 228228CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei229 – 24921Helical; Name=Segment S1Sequence AnalysisAdd
BLAST
Topological domaini250 – 25910ExtracellularSequence Analysis
Transmembranei260 – 28021Helical; Name=Segment S2Sequence AnalysisAdd
BLAST
Topological domaini281 – 30222CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei303 – 32321Helical; Name=Segment S3Sequence AnalysisAdd
BLAST
Topological domaini324 – 3329ExtracellularSequence Analysis
Transmembranei333 – 35321Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
BLAST
Topological domaini354 – 3618CytoplasmicSequence Analysis
Transmembranei362 – 38221Helical; Name=Segment S5Sequence AnalysisAdd
BLAST
Topological domaini383 – 42745ExtracellularSequence AnalysisAdd
BLAST
Intramembranei428 – 44821Pore-forming; Name=Segment H5Sequence AnalysisAdd
BLAST
Topological domaini449 – 48234ExtracellularSequence AnalysisAdd
BLAST
Transmembranei483 – 50321Helical; Name=Segment S6Sequence AnalysisAdd
BLAST
Topological domaini504 – 1017514CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. plasma membrane Source: Reactome
  2. voltage-gated potassium channel complex Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30039.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10171017Potassium voltage-gated channel subfamily H member 4PRO_0000054008Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi414 – 4141N-linked (GlcNAc...)Sequence Analysis
Glycosylationi473 – 4731N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9UQ05.
PRIDEiQ9UQ05.

PTM databases

PhosphoSiteiQ9UQ05.

Expressioni

Tissue specificityi

Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.

Gene expression databases

BgeeiQ9UQ05.
CleanExiHS_KCNH4.
GenevestigatoriQ9UQ05.

Interactioni

Subunit structurei

The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha subunits that can associate with modulating beta subunits.

Protein-protein interaction databases

STRINGi9606.ENSP00000264661.

Structurei

3D structure databases

ProteinModelPortaliQ9UQ05.
SMRiQ9UQ05. Positions 11-136, 426-481, 484-691.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini14 – 9077PASPROSITE-ProRule annotationAdd
BLAST
Domaini93 – 14553PACPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi439 – 4446Selectivity filterBy similarity

Domaini

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

Sequence similaritiesi

Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation
Contains 1 PAC (PAS-associated C-terminal) domain.PROSITE-ProRule annotation
Contains 1 PAS (PER-ARNT-SIM) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2202.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000230794.
HOVERGENiHBG052232.
InParanoidiQ9UQ05.
KOiK04907.
OMAiVPKAVWD.
OrthoDBiEOG7QG43V.
PhylomeDBiQ9UQ05.
TreeFamiTF313130.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR003950. K_chnl_volt-dep_ELK.
IPR001610. PAC.
IPR000014. PAS.
IPR000700. PAS-assoc_C.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSiPR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTiSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsiTIGR00229. sensory_box. 1 hit.
PROSITEiPS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UQ05-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPVMKGLLAP QNTFLDTIAT RFDGTHSNFL LANAQGTRGF PIVYCSDGFC
60 70 80 90 100
ELTGYGRTEV MQKTCSCRFL YGPETSEPAL QRLHKALEGH QEHRAEICFY
110 120 130 140 150
RKDGSAFWCL LDMMPIKNEM GEVVLFLFSF KDITQSGSPG LGPQGGRGDS
160 170 180 190 200
NHENSLGRRG ATWKFRSARR RSRTVLHRLT GHFGRRGQGG MKANNNVFEP
210 220 230 240 250
KPSVPEYKVA SVGGSRCLLL HYSVSKAIWD GLILLATFYV AVTVPYNVCF
260 270 280 290 300
SGDDDTPITS RHTLVSDIAV EMLFILDIIL NFRTTYVSQS GQVISAPRSI
310 320 330 340 350
GLHYLATWFF IDLIAALPFD LLYIFNITVT SLVHLLKTVR LLRLLRLLQK
360 370 380 390 400
LERYSQCSAV VLTLLMSVFA LLAHWMACIW YVIGRREMEA NDPLLWDIGW
410 420 430 440 450
LHELGKRLEV PYVNGSVGGP SRRSAYIAAL YFTLSSLTSV GFGNVCANTD
460 470 480 490 500
AEKIFSICTM LIGALMHAVV FGNVTAIIQR MYSRRSLYHS RMKDLKDFIR
510 520 530 540 550
VHRLPRPLKQ RMLEYFQTTW AVNSGIDANE LLRDFPDELR ADIAMHLNRE
560 570 580 590 600
ILQLPLFGAA SRGCLRALSL HIKTSFCAPG EYLLRRGDAL QAHYYVCSGS
610 620 630 640 650
LEVLRDNMVL AILGKGDLIG ADIPEPGQEP GLGADPNFVL KTSADVKALT
660 670 680 690 700
YCGLQQLSSR GLAEVLRLYP EYGAAFRAGL PRDLTFNLRQ GSDTSGLSRF
710 720 730 740 750
SRSPRLSQPR SESLGSSSDK TLPSITEAES GAEPGGGPRP RRPLLLPNLS
760 770 780 790 800
PARPRGSLVS LLGEELPPFS ALVSSPSLSP SLSPALAGQG HSASPHGPPR
810 820 830 840 850
CSAAWKPPQL LIPPLGTFGP PDLSPRIVDG IEDSGSTAEA PSFRFSRRPE
860 870 880 890 900
LPRPRSQAPP TGTRPSPELA SEAEEVKEKV CRLNQEISRL NQEVSQLSRE
910 920 930 940 950
LRHIMGLLQA RLGPPGHPAG SAWTPDPPCP QLRPPCLSPC ASRPPPSLQD
960 970 980 990 1000
TTLAEVHCPA SVGTMETGTA LLDLRPSILP PYPSEPDPLG PSPVPEASPP
1010
TPSLLRHSFQ SRSDTFH
Length:1,017
Mass (Da):111,693
Last modified:May 1, 2000 - v1
Checksum:i4B480DFC75816A38
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti797 – 7971G → R in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035771

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB022698 mRNA. Translation: BAA83592.1.
CCDSiCCDS11420.1.
RefSeqiNP_036417.1. NM_012285.2.
UniGeneiHs.304081.

Genome annotation databases

EnsembliENST00000264661; ENSP00000264661; ENSG00000089558.
ENST00000607371; ENSP00000475564; ENSG00000089558.
GeneIDi23415.
KEGGihsa:23415.
UCSCiuc002hzb.2. human.

Polymorphism databases

DMDMi26006815.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB022698 mRNA. Translation: BAA83592.1 .
CCDSi CCDS11420.1.
RefSeqi NP_036417.1. NM_012285.2.
UniGenei Hs.304081.

3D structure databases

ProteinModelPortali Q9UQ05.
SMRi Q9UQ05. Positions 11-136, 426-481, 484-691.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000264661.

Chemistry

ChEMBLi CHEMBL2362996.

PTM databases

PhosphoSitei Q9UQ05.

Polymorphism databases

DMDMi 26006815.

Proteomic databases

PaxDbi Q9UQ05.
PRIDEi Q9UQ05.

Protocols and materials databases

DNASUi 23415.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264661 ; ENSP00000264661 ; ENSG00000089558 .
ENST00000607371 ; ENSP00000475564 ; ENSG00000089558 .
GeneIDi 23415.
KEGGi hsa:23415.
UCSCi uc002hzb.2. human.

Organism-specific databases

CTDi 23415.
GeneCardsi GC17M040308.
HGNCi HGNC:6253. KCNH4.
MIMi 604528. gene.
neXtProti NX_Q9UQ05.
PharmGKBi PA30039.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG2202.
GeneTreei ENSGT00760000118772.
HOGENOMi HOG000230794.
HOVERGENi HBG052232.
InParanoidi Q9UQ05.
KOi K04907.
OMAi VPKAVWD.
OrthoDBi EOG7QG43V.
PhylomeDBi Q9UQ05.
TreeFami TF313130.

Enzyme and pathway databases

Reactomei REACT_75770. Voltage gated Potassium channels.

Miscellaneous databases

GeneWikii KCNH4.
GenomeRNAii 23415.
NextBioi 45619.
PROi Q9UQ05.
SOURCEi Search...

Gene expression databases

Bgeei Q9UQ05.
CleanExi HS_KCNH4.
Genevestigatori Q9UQ05.

Family and domain databases

Gene3Di 2.60.120.10. 1 hit.
InterProi IPR018490. cNMP-bd-like.
IPR000595. cNMP-bd_dom.
IPR005821. Ion_trans_dom.
IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
IPR003950. K_chnl_volt-dep_ELK.
IPR001610. PAC.
IPR000014. PAS.
IPR000700. PAS-assoc_C.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
Pfami PF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view ]
PRINTSi PR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTi SM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsi TIGR00229. sensory_box. 1 hit.
PROSITEi PS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "New ether-a-go-go K+ channel family members localized in human telencephalon."
    Miyake A., Mochizuki S., Yokoi H., Kohda M., Furuichi K.
    J. Biol. Chem. 274:25018-25025(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-797.

Entry informationi

Entry nameiKCNH4_HUMAN
AccessioniPrimary (citable) accession number: Q9UQ05
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 1, 2000
Last modified: November 26, 2014
This is version 133 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3