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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 – 228228Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei229 – 24921Helical; Name=Segment S1; Reviewed predictionAdd
BLAST
Topological domaini250 – 25910Extracellular Reviewed prediction
Transmembranei260 – 28021Helical; Name=Segment S2; Reviewed predictionAdd
BLAST
Topological domaini281 – 30222Cytoplasmic Reviewed predictionAdd
BLAST
Transmembranei303 – 32321Helical; Name=Segment S3; Reviewed predictionAdd
BLAST
Topological domaini324 – 3329Extracellular Reviewed prediction
Transmembranei333 – 35321Helical; Voltage-sensor; Name=Segment S4; Reviewed predictionAdd
BLAST
Topological domaini354 – 3618Cytoplasmic Reviewed prediction
Transmembranei362 – 38221Helical; Name=Segment S5; Reviewed predictionAdd
BLAST
Topological domaini383 – 42745Extracellular Reviewed predictionAdd
BLAST
Intramembranei428 – 44821Pore-forming; Name=Segment H5; Reviewed predictionAdd
BLAST
Topological domaini449 – 48234Extracellular Reviewed predictionAdd
BLAST
Transmembranei483 – 50321Helical; Name=Segment S6; Reviewed predictionAdd
BLAST
Topological domaini504 – 1017514Cytoplasmic Reviewed predictionAdd
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...) Reviewed prediction
Glycosylationi414 – 4141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi473 – 4731N-linked (GlcNAc...) Reviewed prediction

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, 426-480, 484-691.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini14 – 9077PASAdd
BLAST
Domaini93 – 14553PACAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi439 – 4446Selectivity filter By 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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG2202.
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

MPVMKGLLAP QNTFLDTIAT RFDGTHSNFL LANAQGTRGF PIVYCSDGFC     50
ELTGYGRTEV MQKTCSCRFL YGPETSEPAL QRLHKALEGH QEHRAEICFY 100
RKDGSAFWCL LDMMPIKNEM GEVVLFLFSF KDITQSGSPG LGPQGGRGDS 150
NHENSLGRRG ATWKFRSARR RSRTVLHRLT GHFGRRGQGG MKANNNVFEP 200
KPSVPEYKVA SVGGSRCLLL HYSVSKAIWD GLILLATFYV AVTVPYNVCF 250
SGDDDTPITS RHTLVSDIAV EMLFILDIIL NFRTTYVSQS GQVISAPRSI 300
GLHYLATWFF IDLIAALPFD LLYIFNITVT SLVHLLKTVR LLRLLRLLQK 350
LERYSQCSAV VLTLLMSVFA LLAHWMACIW YVIGRREMEA NDPLLWDIGW 400
LHELGKRLEV PYVNGSVGGP SRRSAYIAAL YFTLSSLTSV GFGNVCANTD 450
AEKIFSICTM LIGALMHAVV FGNVTAIIQR MYSRRSLYHS RMKDLKDFIR 500
VHRLPRPLKQ RMLEYFQTTW AVNSGIDANE LLRDFPDELR ADIAMHLNRE 550
ILQLPLFGAA SRGCLRALSL HIKTSFCAPG EYLLRRGDAL QAHYYVCSGS 600
LEVLRDNMVL AILGKGDLIG ADIPEPGQEP GLGADPNFVL KTSADVKALT 650
YCGLQQLSSR GLAEVLRLYP EYGAAFRAGL PRDLTFNLRQ GSDTSGLSRF 700
SRSPRLSQPR SESLGSSSDK TLPSITEAES GAEPGGGPRP RRPLLLPNLS 750
PARPRGSLVS LLGEELPPFS ALVSSPSLSP SLSPALAGQG HSASPHGPPR 800
CSAAWKPPQL LIPPLGTFGP PDLSPRIVDG IEDSGSTAEA PSFRFSRRPE 850
LPRPRSQAPP TGTRPSPELA SEAEEVKEKV CRLNQEISRL NQEVSQLSRE 900
LRHIMGLLQA RLGPPGHPAG SAWTPDPPCP QLRPPCLSPC ASRPPPSLQD 950
TTLAEVHCPA SVGTMETGTA LLDLRPSILP PYPSEPDPLG PSPVPEASPP 1000
TPSLLRHSFQ SRSDTFH 1017
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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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, 426-480, 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.
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: September 3, 2014
This is version 130 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

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