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Q9UQ05 (KCNH4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 127. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:KCNH4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1017 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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.

Domain

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

Sequence similarities

Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv12.3/KCNH4 sub-subfamily. [View classification]

Contains 1 cyclic nucleotide-binding domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 1 PAS (PER-ARNT-SIM) domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10171017Potassium voltage-gated channel subfamily H member 4
PRO_0000054008

Regions

Topological domain1 – 228228Cytoplasmic Potential
Transmembrane229 – 24921Helical; Name=Segment S1; Potential
Topological domain250 – 25910Extracellular Potential
Transmembrane260 – 28021Helical; Name=Segment S2; Potential
Topological domain281 – 30222Cytoplasmic Potential
Transmembrane303 – 32321Helical; Name=Segment S3; Potential
Topological domain324 – 3329Extracellular Potential
Transmembrane333 – 35321Helical; Voltage-sensor; Name=Segment S4; Potential
Topological domain354 – 3618Cytoplasmic Potential
Transmembrane362 – 38221Helical; Name=Segment S5; Potential
Topological domain383 – 42745Extracellular Potential
Intramembrane428 – 44821Pore-forming; Name=Segment H5; Potential
Topological domain449 – 48234Extracellular Potential
Transmembrane483 – 50321Helical; Name=Segment S6; Potential
Topological domain504 – 1017514Cytoplasmic Potential
Domain14 – 9077PAS
Domain93 – 14553PAC
Nucleotide binding556 – 671116cNMP
Motif439 – 4446Selectivity filter By similarity

Amino acid modifications

Glycosylation3261N-linked (GlcNAc...) Potential
Glycosylation4141N-linked (GlcNAc...) Potential
Glycosylation4731N-linked (GlcNAc...) Potential

Natural variations

Natural variant7971G → R in a colorectal cancer sample; somatic mutation. Ref.2
VAR_035771

Sequences

Sequence LengthMass (Da)Tools
Q9UQ05 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 4B480DFC75816A38

FASTA1,017111,693
        10         20         30         40         50         60 
MPVMKGLLAP QNTFLDTIAT RFDGTHSNFL LANAQGTRGF PIVYCSDGFC ELTGYGRTEV 

        70         80         90        100        110        120 
MQKTCSCRFL YGPETSEPAL QRLHKALEGH QEHRAEICFY RKDGSAFWCL LDMMPIKNEM 

       130        140        150        160        170        180 
GEVVLFLFSF KDITQSGSPG LGPQGGRGDS NHENSLGRRG ATWKFRSARR RSRTVLHRLT 

       190        200        210        220        230        240 
GHFGRRGQGG MKANNNVFEP KPSVPEYKVA SVGGSRCLLL HYSVSKAIWD GLILLATFYV 

       250        260        270        280        290        300 
AVTVPYNVCF SGDDDTPITS RHTLVSDIAV EMLFILDIIL NFRTTYVSQS GQVISAPRSI 

       310        320        330        340        350        360 
GLHYLATWFF IDLIAALPFD LLYIFNITVT SLVHLLKTVR LLRLLRLLQK LERYSQCSAV 

       370        380        390        400        410        420 
VLTLLMSVFA LLAHWMACIW YVIGRREMEA NDPLLWDIGW LHELGKRLEV PYVNGSVGGP 

       430        440        450        460        470        480 
SRRSAYIAAL YFTLSSLTSV GFGNVCANTD AEKIFSICTM LIGALMHAVV FGNVTAIIQR 

       490        500        510        520        530        540 
MYSRRSLYHS RMKDLKDFIR VHRLPRPLKQ RMLEYFQTTW AVNSGIDANE LLRDFPDELR 

       550        560        570        580        590        600 
ADIAMHLNRE ILQLPLFGAA SRGCLRALSL HIKTSFCAPG EYLLRRGDAL QAHYYVCSGS 

       610        620        630        640        650        660 
LEVLRDNMVL AILGKGDLIG ADIPEPGQEP GLGADPNFVL KTSADVKALT YCGLQQLSSR 

       670        680        690        700        710        720 
GLAEVLRLYP EYGAAFRAGL PRDLTFNLRQ GSDTSGLSRF SRSPRLSQPR SESLGSSSDK 

       730        740        750        760        770        780 
TLPSITEAES GAEPGGGPRP RRPLLLPNLS PARPRGSLVS LLGEELPPFS ALVSSPSLSP 

       790        800        810        820        830        840 
SLSPALAGQG HSASPHGPPR CSAAWKPPQL LIPPLGTFGP PDLSPRIVDG IEDSGSTAEA 

       850        860        870        880        890        900 
PSFRFSRRPE LPRPRSQAPP TGTRPSPELA SEAEEVKEKV CRLNQEISRL NQEVSQLSRE 

       910        920        930        940        950        960 
LRHIMGLLQA RLGPPGHPAG SAWTPDPPCP QLRPPCLSPC ASRPPPSLQD TTLAEVHCPA 

       970        980        990       1000       1010 
SVGTMETGTA LLDLRPSILP PYPSEPDPLG PSPVPEASPP TPSLLRHSFQ SRSDTFH 

« Hide

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB022698 mRNA. Translation: BAA83592.1.
RefSeqNP_036417.1. NM_012285.2.
UniGeneHs.304081.

3D structure databases

ProteinModelPortalQ9UQ05.
SMRQ9UQ05. Positions 11-136, 426-477, 484-691.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000264661.

Chemistry

ChEMBLCHEMBL2362996.

PTM databases

PhosphoSiteQ9UQ05.

Polymorphism databases

DMDM26006815.

Proteomic databases

PaxDbQ9UQ05.
PRIDEQ9UQ05.

Protocols and materials databases

DNASU23415.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264661; ENSP00000264661; ENSG00000089558.
ENST00000607371; ENSP00000475564; ENSG00000089558.
GeneID23415.
KEGGhsa:23415.
UCSCuc002hzb.2. human.

Organism-specific databases

CTD23415.
GeneCardsGC17M040308.
HGNCHGNC:6253. KCNH4.
MIM604528. gene.
neXtProtNX_Q9UQ05.
PharmGKBPA30039.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2202.
HOGENOMHOG000230794.
HOVERGENHBG052232.
InParanoidQ9UQ05.
KOK04907.
OMAVPKAVWD.
OrthoDBEOG7QG43V.
PhylomeDBQ9UQ05.
TreeFamTF313130.

Enzyme and pathway databases

ReactomeREACT_13685. Neuronal System.

Gene expression databases

BgeeQ9UQ05.
CleanExHS_KCNH4.
GenevestigatorQ9UQ05.

Family and domain databases

Gene3D2.60.120.10. 1 hit.
InterProIPR018490. 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]
PfamPF00520. Ion_trans. 1 hit.
PF13426. PAS_9. 1 hit.
[Graphical view]
PRINTSPR01463. EAGCHANLFMLY.
PR01465. ELKCHANNEL.
SMARTSM00100. cNMP. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 1 hit.
[Graphical view]
SUPFAMSSF51206. SSF51206. 1 hit.
SSF55785. SSF55785. 1 hit.
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS50042. CNMP_BINDING_3. 1 hit.
PS50113. PAC. 1 hit.
PS50112. PAS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiKCNH4.
GenomeRNAi23415.
NextBio45619.
PROQ9UQ05.
SOURCESearch...

Entry information

Entry nameKCNH4_HUMAN
AccessionPrimary (citable) accession number: Q9UQ05
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2002
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 127 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

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 17

Human chromosome 17: entries, gene names and cross-references to MIM