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Q9Y3Q4

- HCN4_HUMAN

UniProt

Q9Y3Q4 - HCN4_HUMAN

Protein

Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4

Gene

HCN4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 126 (01 Oct 2014)
      Sequence version 1 (01 Nov 1999)
      Previous versions | rss
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    Functioni

    Hyperpolarization-activated ion channel with very slow activation and inactivation exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat. May contribute to the native pacemaker currents in neurons (Ih). May mediate responses to sour stimuli.5 Publications

    Enzyme regulationi

    Activated by cAMP. cAMP binding causes a conformation change that leads to the assembly of an active tetramer and channel opening.3 Publications

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi659 – 6624cAMP2 Publications
    Nucleotide bindingi669 – 6702cAMP2 Publications
    Nucleotide bindingi710 – 7134cAMP2 Publications

    GO - Molecular functioni

    1. cAMP binding Source: UniProtKB-KW
    2. cation channel activity Source: ProtInc
    3. identical protein binding Source: IntAct
    4. intracellular cAMP activated cation channel activity Source: UniProtKB
    5. voltage-gated potassium channel activity Source: UniProtKB
    6. voltage-gated sodium channel activity Source: UniProt

    GO - Biological processi

    1. blood circulation Source: ProtInc
    2. cation transport Source: ProtInc
    3. cellular response to cAMP Source: UniProtKB
    4. cellular response to cGMP Source: UniProt
    5. in utero embryonic development Source: Ensembl
    6. muscle contraction Source: ProtInc
    7. potassium ion transmembrane transport Source: UniProtKB
    8. regulation of heart rate Source: UniProtKB
    9. regulation of membrane potential Source: UniProt
    10. sodium ion transmembrane transport Source: UniProt
    11. synaptic transmission Source: Reactome

    Keywords - Molecular functioni

    Ion channel, Ligand-gated ion channel, Potassium channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Potassium transport, Sodium transport, Transport

    Keywords - Ligandi

    cAMP, cAMP-binding, Nucleotide-binding, Potassium, Sodium

    Enzyme and pathway databases

    ReactomeiREACT_75862. HCN channels.

    Protein family/group databases

    TCDBi1.A.1.5.10. the voltage-gated ion channel (vic) superfamily.
    1.A.1.5.11. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4
    Gene namesi
    Name:HCN4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:16882. HCN4.

    Subcellular locationi

    Cell membrane 3 Publications; Multi-pass membrane protein 3 Publications

    GO - Cellular componenti

    1. integral component of plasma membrane Source: RefGenome
    2. intrinsic component of plasma membrane Source: UniProtKB
    3. plasma membrane Source: UniProt
    4. terminal bouton Source: Ensembl

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Sick sinus syndrome 2 (SSS2) [MIM:163800]: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti485 – 4851A → V in SSS2; results in a significant reduction of current density compared to wild-type. 1 Publication
    VAR_066614
    Natural varianti672 – 6721S → R in SSS2; shifts the current activation range to hyperpolarized voltages, slows channel opening and speeds up channel closure, decreases affinity for cAMP, but does not abolish activation by cAMP. 1 Publication
    VAR_026535
    Brugada syndrome 8 (BRGDA8) [MIM:613123]: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Brugada syndrome, Disease mutation

    Organism-specific databases

    MIMi163800. phenotype.
    613123. phenotype.
    Orphaneti130. Brugada syndrome.
    166282. Familial sick sinus syndrome.
    PharmGKBiPA394.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12031203Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4PRO_0000054117Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi458 – 4581N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9Y3Q4.
    PRIDEiQ9Y3Q4.

    PTM databases

    PhosphoSiteiQ9Y3Q4.

    Expressioni

    Tissue specificityi

    Highly expressed in thalamus, testis and in heart, both in ventricle and atrium. Detected at much lower levels in amygdala, substantia nigra, cerebellum and hippocampus.2 Publications

    Gene expression databases

    BgeeiQ9Y3Q4.
    CleanExiHS_HCN4.
    GenevestigatoriQ9Y3Q4.

    Interactioni

    Subunit structurei

    Homotetramer. The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-1753521,EBI-1753521

    Protein-protein interaction databases

    BioGridi115338. 3 interactions.
    DIPiDIP-52325N.
    IntActiQ9Y3Q4. 2 interactions.
    STRINGi9606.ENSP00000261917.

    Structurei

    Secondary structure

    1
    1203
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi522 – 54019
    Helixi545 – 55915
    Helixi566 – 5716
    Helixi575 – 58511
    Helixi587 – 5915
    Helixi594 – 5974
    Helixi601 – 6088
    Beta strandi612 – 6165
    Beta strandi621 – 6233
    Beta strandi631 – 6377
    Beta strandi640 – 6434
    Beta strandi645 – 6473
    Beta strandi650 – 6523
    Helixi661 – 6655
    Beta strandi666 – 6683
    Beta strandi670 – 6778
    Beta strandi679 – 6857
    Helixi686 – 69510
    Helixi697 – 6993
    Helixi700 – 71213

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2MNGNMR-A579-707[»]
    3OTFX-ray2.40A521-739[»]
    3U11X-ray2.50A/B521-723[»]
    4HBNX-ray2.60A521-724[»]
    4KL1X-ray2.70A/B/C/D521-713[»]
    4NVPX-ray2.50A521-723[»]
    ProteinModelPortaliQ9Y3Q4.
    SMRiQ9Y3Q4. Positions 463-717.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9Y3Q4.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 266266CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini288 – 2936ExtracellularSequence Analysis
    Topological domaini315 – 34026CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini362 – 3687ExtracellularSequence Analysis
    Topological domaini390 – 42031CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini442 – 46423ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini487 – 49610ExtracellularSequence Analysis
    Topological domaini518 – 1203686CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei465 – 48622Pore-forming; Name=Segment H5Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei267 – 28721Helical; Name=Segment S1Sequence AnalysisAdd
    BLAST
    Transmembranei294 – 31421Helical; Name=Segment S2Sequence AnalysisAdd
    BLAST
    Transmembranei341 – 36121Helical; Name=Segment S3Sequence AnalysisAdd
    BLAST
    Transmembranei369 – 38921Helical; Voltage-sensor; Name=Segment S4Sequence AnalysisAdd
    BLAST
    Transmembranei421 – 44121Helical; Name=Segment S5Sequence AnalysisAdd
    BLAST
    Transmembranei497 – 51721Helical; Name=Segment S6Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni209 – 26052Involved in subunit assemblyBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi924 – 1076153Pro-richAdd
    BLAST

    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

    Belongs to the potassium channel HCN family.Curated
    Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0664.
    HOGENOMiHOG000230717.
    HOVERGENiHBG039490.
    InParanoidiQ9Y3Q4.
    KOiK04957.
    OMAiGFGHFHK.
    OrthoDBiEOG7VMP6X.
    PhylomeDBiQ9Y3Q4.
    TreeFamiTF318250.

    Family and domain databases

    Gene3Di2.60.120.10. 1 hit.
    InterProiIPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR005821. Ion_trans_dom.
    IPR013621. Ion_trans_N.
    IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view]
    PfamiPF00027. cNMP_binding. 1 hit.
    PF00520. Ion_trans. 1 hit.
    PF08412. Ion_trans_N. 1 hit.
    [Graphical view]
    PRINTSiPR01463. EAGCHANLFMLY.
    SMARTiSM00100. cNMP. 1 hit.
    [Graphical view]
    SUPFAMiSSF51206. SSF51206. 1 hit.
    PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9Y3Q4-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDKLPPSMRK RLYSLPQQVG AKAWIMDEEE DAEEEGAGGR QDPSRRSIRL     50
    RPLPSPSPSA AAGGTESRSS ALGAADSEGP ARGAGKSSTN GDCRRFRGSL 100
    ASLGSRGGGS GGTGSGSSHG HLHDSAEERR LIAEGDASPG EDRTPPGLAA 150
    EPERPGASAQ PAASPPPPQQ PPQPASASCE QPSVDTAIKV EGGAAAGDQI 200
    LPEAEVRLGQ AGFMQRQFGA MLQPGVNKFS LRMFGSQKAV EREQERVKSA 250
    GFWIIHPYSD FRFYWDLTML LLMVGNLIII PVGITFFKDE NTTPWIVFNV 300
    VSDTFFLIDL VLNFRTGIVV EDNTEIILDP QRIKMKYLKS WFMVDFISSI 350
    PVDYIFLIVE TRIDSEVYKT ARALRIVRFT KILSLLRLLR LSRLIRYIHQ 400
    WEEIFHMTYD LASAVVRIVN LIGMMLLLCH WDGCLQFLVP MLQDFPDDCW 450
    VSINNMVNNS WGKQYSYALF KAMSHMLCIG YGRQAPVGMS DVWLTMLSMI 500
    VGATCYAMFI GHATALIQSL DSSRRQYQEK YKQVEQYMSF HKLPPDTRQR 550
    IHDYYEHRYQ GKMFDEESIL GELSEPLREE IINFNCRKLV ASMPLFANAD 600
    PNFVTSMLTK LRFEVFQPGD YIIREGTIGK KMYFIQHGVV SVLTKGNKET 650
    KLADGSYFGE ICLLTRGRRT ASVRADTYCR LYSLSVDNFN EVLEEYPMMR 700
    RAFETVALDR LDRIGKKNSI LLHKVQHDLN SGVFNYQENE IIQQIVQHDR 750
    EMAHCAHRVQ AAASATPTPT PVIWTPLIQA PLQAAAATTS VAIALTHHPR 800
    LPAAIFRPPP GSGLGNLGAG QTPRHLKRLQ SLIPSALGSA SPASSPSQVD 850
    TPSSSSFHIQ QLAGFSAPAG LSPLLPSSSS SPPPGACGSP SAPTPSAGVA 900
    ATTIAGFGHF HKALGGSLSS SDSPLLTPLQ PGARSPQAAQ PSPAPPGARG 950
    GLGLPEHFLP PPPSSRSPSS SPGQLGQPPG ELSLGLATGP LSTPETPPRQ 1000
    PEPPSLVAGA SGGASPVGFT PRGGLSPPGH SPGPPRTFPS APPRASGSHG 1050
    SLLLPPASSP PPPQVPQRRG TPPLTPGRLT QDLKLISASQ PALPQDGAQT 1100
    LRRASPHSSG ESMAAFPLFP RAGGGSGGSG SSGGLGPPGR PYGAIPGQHV 1150
    TLPRKTSSGS LPPPLSLFGA RATSSGGPPL TAGPQREPGA RPEPVRSKLP 1200
    SNL 1203
    Length:1,203
    Mass (Da):129,042
    Last modified:November 1, 1999 - v1
    Checksum:i7EFDD2D69CF1F9D9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti110 – 1101S → T in CAB52754. (PubMed:10430953)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti485 – 4851A → V in SSS2; results in a significant reduction of current density compared to wild-type. 1 Publication
    VAR_066614
    Natural varianti553 – 5531D → N in a patient with cardiac arrhythmia. 1 Publication
    VAR_026534
    Natural varianti672 – 6721S → R in SSS2; shifts the current activation range to hyperpolarized voltages, slows channel opening and speeds up channel closure, decreases affinity for cAMP, but does not abolish activation by cAMP. 1 Publication
    VAR_026535

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132429 mRNA. Translation: CAB42604.1.
    AJ238850 mRNA. Translation: CAB52754.1.
    CCDSiCCDS10248.1.
    RefSeqiNP_005468.1. NM_005477.2.
    UniGeneiHs.86941.

    Genome annotation databases

    EnsembliENST00000261917; ENSP00000261917; ENSG00000138622.
    GeneIDi10021.
    KEGGihsa:10021.
    UCSCiuc002avp.3. human.

    Polymorphism databases

    DMDMi38605641.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ132429 mRNA. Translation: CAB42604.1 .
    AJ238850 mRNA. Translation: CAB52754.1 .
    CCDSi CCDS10248.1.
    RefSeqi NP_005468.1. NM_005477.2.
    UniGenei Hs.86941.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2MNG NMR - A 579-707 [» ]
    3OTF X-ray 2.40 A 521-739 [» ]
    3U11 X-ray 2.50 A/B 521-723 [» ]
    4HBN X-ray 2.60 A 521-724 [» ]
    4KL1 X-ray 2.70 A/B/C/D 521-713 [» ]
    4NVP X-ray 2.50 A 521-723 [» ]
    ProteinModelPortali Q9Y3Q4.
    SMRi Q9Y3Q4. Positions 463-717.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115338. 3 interactions.
    DIPi DIP-52325N.
    IntActi Q9Y3Q4. 2 interactions.
    STRINGi 9606.ENSP00000261917.

    Chemistry

    BindingDBi Q9Y3Q4.
    ChEMBLi CHEMBL1250417.
    GuidetoPHARMACOLOGYi 403.

    Protein family/group databases

    TCDBi 1.A.1.5.10. the voltage-gated ion channel (vic) superfamily.
    1.A.1.5.11. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei Q9Y3Q4.

    Polymorphism databases

    DMDMi 38605641.

    Proteomic databases

    PaxDbi Q9Y3Q4.
    PRIDEi Q9Y3Q4.

    Protocols and materials databases

    DNASUi 10021.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000261917 ; ENSP00000261917 ; ENSG00000138622 .
    GeneIDi 10021.
    KEGGi hsa:10021.
    UCSCi uc002avp.3. human.

    Organism-specific databases

    CTDi 10021.
    GeneCardsi GC15M073612.
    GeneReviewsi HCN4.
    HGNCi HGNC:16882. HCN4.
    MIMi 163800. phenotype.
    605206. gene.
    613123. phenotype.
    neXtProti NX_Q9Y3Q4.
    Orphaneti 130. Brugada syndrome.
    166282. Familial sick sinus syndrome.
    PharmGKBi PA394.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0664.
    HOGENOMi HOG000230717.
    HOVERGENi HBG039490.
    InParanoidi Q9Y3Q4.
    KOi K04957.
    OMAi GFGHFHK.
    OrthoDBi EOG7VMP6X.
    PhylomeDBi Q9Y3Q4.
    TreeFami TF318250.

    Enzyme and pathway databases

    Reactomei REACT_75862. HCN channels.

    Miscellaneous databases

    EvolutionaryTracei Q9Y3Q4.
    GeneWikii HCN4.
    GenomeRNAii 10021.
    NextBioi 37865.
    PROi Q9Y3Q4.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9Y3Q4.
    CleanExi HS_HCN4.
    Genevestigatori Q9Y3Q4.

    Family and domain databases

    Gene3Di 2.60.120.10. 1 hit.
    InterProi IPR018490. cNMP-bd-like.
    IPR018488. cNMP-bd_CS.
    IPR000595. cNMP-bd_dom.
    IPR005821. Ion_trans_dom.
    IPR013621. Ion_trans_N.
    IPR003938. K_chnl_volt-dep_EAG/ELK/ERG.
    IPR014710. RmlC-like_jellyroll.
    [Graphical view ]
    Pfami PF00027. cNMP_binding. 1 hit.
    PF00520. Ion_trans. 1 hit.
    PF08412. Ion_trans_N. 1 hit.
    [Graphical view ]
    PRINTSi PR01463. EAGCHANLFMLY.
    SMARTi SM00100. cNMP. 1 hit.
    [Graphical view ]
    SUPFAMi SSF51206. SSF51206. 1 hit.
    PROSITEi PS00888. CNMP_BINDING_1. 1 hit.
    PS50042. CNMP_BINDING_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Two pacemaker channels from human heart with profoundly different activation kinetics."
      Ludwig A., Zong X., Stieber J., Hullin R., Hofmann F., Biel M.
      EMBO J. 18:2323-2329(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Heart.
    2. "Molecular characterization of a slowly gating human hyperpolarization-activated channel predominantly expressed in thalamus, heart, and testis."
      Seifert R., Scholten A., Gauss R., Mincheva A., Lichter P., Kaupp U.B.
      Proc. Natl. Acad. Sci. U.S.A. 96:9391-9396(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
      Tissue: Thalamus.
    3. Cited for: FUNCTION, INVOLVEMENT IN BRGDA8.
    4. "Structural basis for the cAMP-dependent gating in the human HCN4 channel."
      Xu X., Vysotskaya Z.V., Liu Q., Zhou L.
      J. Biol. Chem. 285:37082-37091(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 521-739 IN COMPLEX WITH CAMP, NUCLEOTIDE-BINDING, FUNCTION, ENZYME REGULATION, SUBUNIT.
    5. "Tetramerization dynamics of C-terminal domain underlies isoform-specific cAMP gating in hyperpolarization-activated cyclic nucleotide-gated channels."
      Lolicato M., Nardini M., Gazzarrini S., Moller S., Bertinetti D., Herberg F.W., Bolognesi M., Martin H., Fasolini M., Bertrand J.A., Arrigoni C., Thiel G., Moroni A.
      J. Biol. Chem. 286:44811-44820(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 521-723 IN COMPLEX WITH CAMP, NUCLEOTIDE-BINDING, ENZYME REGULATION, SUBUNIT.
    6. "Local and global interpretations of a disease-causing mutation near the ligand entry path in hyperpolarization-activated cAMP-gated channel."
      Xu X., Marni F., Wu S., Su Z., Musayev F., Shrestha S., Xie C., Gao W., Liu Q., Zhou L.
      Structure 20:2116-2123(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 521-724, CHARACTERIZATION OF VARIANT SSS2 ARG-672.
    7. "Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia."
      Ueda K., Nakamura K., Hayashi T., Inagaki N., Takahashi M., Arimura T., Morita H., Higashiuesato Y., Hirano Y., Yasunami M., Takishita S., Yamashina A., Ohe T., Sunamori M., Hiraoka M., Kimura A.
      J. Biol. Chem. 279:27194-27198(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CARDIAC ARRHYTHMIA ASN-553.
    8. "Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel."
      Milanesi R., Baruscotti M., Gnecchi-Ruscone T., DiFrancesco D.
      N. Engl. J. Med. 354:151-157(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SSS2 ARG-672, FUNCTION, ENZYME REGULATION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANT SSS2 ARG-672.
    9. Cited for: VARIANT SSS2 VAL-485, CHARACTERIZATION OF VARIANT SSS2 VAL-485.

    Entry informationi

    Entry nameiHCN4_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y3Q4
    Secondary accession number(s): Q9UMQ7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 28, 2003
    Last sequence update: November 1, 1999
    Last modified: October 1, 2014
    This is version 126 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

    Miscellaneous

    Inhibited by extracellular cesium ions.

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 15
      Human chromosome 15: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3