LOCUS       NM_144633               5077 bp    mRNA    linear   PRI 20-OCT-2024
DEFINITION  Homo sapiens potassium voltage-gated channel subfamily H member 8
            (KCNH8), mRNA.
ACCESSION   NM_144633
VERSION     NM_144633.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5077)
  AUTHORS   Dierich,M. and Leitner,M.G.
  TITLE     Kv12.1 channels are not sensitive to GqPCR-triggered activation of
            phospholipase Cbeta
  JOURNAL   Channels (Austin) 12 (1), 228-239 (2018)
   PUBMED   30136882
  REMARK    GeneRIF: Kv12.1 channels add to the growing list of K(+) channels
            that are insensitive to phospholipase C beta signaling
REFERENCE   2  (bases 1 to 5077)
  AUTHORS   Li,X., Anishkin,A., Liu,H., van Rossum,D.B., Chintapalli,S.V.,
            Sassic,J.K., Gallegos,D., Pivaroff-Ward,K. and Jegla,T.
  TITLE     Bimodal regulation of an Elk subfamily K+ channel by
            phosphatidylinositol 4,5-bisphosphate
  JOURNAL   J Gen Physiol 146 (5), 357-374 (2015)
   PUBMED   26503718
REFERENCE   3  (bases 1 to 5077)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 5077)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 5077)
  AUTHORS   Kiel,D.P., Demissie,S., Dupuis,J., Lunetta,K.L., Murabito,J.M. and
            Karasik,D.
  TITLE     Genome-wide association with bone mass and geometry in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S14 (2007)
   PUBMED   17903296
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5077)
  AUTHORS   Gutman,G.A., Chandy,K.G., Grissmer,S., Lazdunski,M., McKinnon,D.,
            Pardo,L.A., Robertson,G.A., Rudy,B., Sanguinetti,M.C., Stuhmer,W.
            and Wang,X.
  TITLE     International Union of Pharmacology. LIII. Nomenclature and
            molecular relationships of voltage-gated potassium channels
  JOURNAL   Pharmacol Rev 57 (4), 473-508 (2005)
   PUBMED   16382104
  REMARK    Review article
REFERENCE   7  (bases 1 to 5077)
  AUTHORS   Zou,A., Lin,Z., Humble,M., Creech,C.D., Wagoner,P.K., Krafte,D.,
            Jegla,T.J. and Wickenden,A.D.
  TITLE     Distribution and functional properties of human KCNH8 (Elk1)
            potassium channels
  JOURNAL   Am J Physiol Cell Physiol 285 (6), C1356-C1366 (2003)
   PUBMED   12890647
REFERENCE   8  (bases 1 to 5077)
  AUTHORS   Baxter,D.F., Kirk,M., Garcia,A.F., Raimondi,A., Holmqvist,M.H.,
            Flint,K.K., Bojanic,D., Distefano,P.S., Curtis,R. and Xie,Y.
  TITLE     A novel membrane potential-sensitive fluorescent dye improves
            cell-based assays for ion channels
  JOURNAL   J Biomol Screen 7 (1), 79-85 (2002)
   PUBMED   11897058
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099538.2, AC135452.2,
            AC116098.3, AC015542.17, AC138315.2 and AC061958.11.
            
            On Nov 26, 2018 this sequence version replaced NM_144633.2.
            
            Summary: Voltage-gated potassium (Kv) channels represent the most
            complex class of voltage-gated ion channels from both functional
            and structural standpoints. Their diverse functions include
            regulating neurotransmitter release, heart rate, insulin secretion,
            neuronal excitability, epithelial electrolyte transport, smooth
            muscle contraction, and cell volume. This gene encodes a member of
            the potassium channel, voltage-gated, subfamily H. This member is a
            pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY053503.1, SRR1803617.40684.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000328405.7/ ENSP00000328813.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-286               AC099538.2         131491-131776
            287-520             AC135452.2         68619-68852
            521-652             AC135452.2         96163-96294
            653-780             AC116098.3         100109-100236
            781-1021            AC116098.3         105247-105487
            1022-1179           AC015542.17        86653-86810         c
            1180-1387           AC015542.17        81980-82187         c
            1388-1585           AC015542.17        38930-39127         c
            1586-1785           AC015542.17        26986-27185         c
            1786-2035           AC015542.17        25887-26136         c
            2036-2250           AC015542.17        20309-20523         c
            2251-2289           AC138315.2         19900-19938         c
            2290-2645           AC138315.2         16976-17331         c
            2646-2752           AC138315.2         14873-14979         c
            2753-2829           AC138315.2         12227-12303         c
            2830-5077           AC061958.11        5100-7347
FEATURES             Location/Qualifiers
     source          1..5077
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p24.3"
     gene            1..5077
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /note="potassium voltage-gated channel subfamily H member
                     8"
                     /db_xref="GeneID:131096"
                     /db_xref="HGNC:HGNC:18864"
                     /db_xref="MIM:608260"
     exon            1..286
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             211..3534
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /note="ether-a-go-go-like potassium channel 1; potassium
                     voltage-gated channel, subfamily H (eag-related), member
                     8; ether-a-go-go-like potassium channel 3; hElk1; ELK
                     channel 3; voltage-gated potassium channel subunit Kv12.1;
                     potassium channel, voltage gated eag related subfamily H,
                     member 8"
                     /codon_start=1
                     /product="voltage-gated delayed rectifier potassium
                     channel KCNH8"
                     /protein_id="NP_653234.2"
                     /db_xref="CCDS:CCDS2632.1"
                     /db_xref="GeneID:131096"
                     /db_xref="HGNC:HGNC:18864"
                     /db_xref="MIM:608260"
                     /translation="MPVMKGLLAPQNTFLDTIATRFDGTHSNFILANAQVAKGFPIVY
                     CSDGFCELAGFARTEVMQKSCSCKFLFGVETNEQLMLQIEKSLEEKTEFKGEIMFYKK
                     NGSPFWCLLDIVPIKNEKGDVVLFLASFKDITDTKVKITPEDKKEDKVKGRSRAGTHF
                     DSARRRSRAVLYHISGHLQRREKNKLKINNNVFVDKPAFPEYKVSDAKKSKFILLHFS
                     TFKAGWDWLILLATFYVAVTVPYNVCFIGNDDLSTTRSTTVSDIAVEILFIIDIILNF
                     RTTYVSKSGQVIFEARSICIHYVTTWFIIDLIAALPFDLLYAFNVTVVSLVHLLKTVR
                     LLRLLRLLQKLDRYSQHSTIVLTLLMSMFALLAHWMACIWYVIGKMEREDNSLLKWEV
                     GWLHELGKRLESPYYGNNTLGGPSIRSAYIAALYFTLSSLTSVGFGNVSANTDAEKIF
                     SICTMLIGALMHALVFGNVTAIIQRMYSRWSLYHTRTKDLKDFIRVHHLPQQLKQRML
                     EYFQTTWSVNNGIDSNELLKDFPDELRSDITMHLNKEILQLSLFECASRGCLRSLSLH
                     IKTSFCAPGEYLLRQGDALQAIYFVCSGSMEVLKDSMVLAILGKGDLIGANLSIKDQV
                     IKTNADVKALTYCDLQCIILKGLFEVLDLYPEYAHKFVEDIQHDLTYNLREGHESDVI
                     SRLSNKSMVSQSEPKGNGNINKRLPSIVEDEEEEEEGEEEEAVSLSPICTRGSSSRNK
                     KVGSNKAYLGLSLKQLASGTVPFHSPIRVSRSNSPKTKQEIDPPNHNKRKEKNLKLQL
                     STLNNAGPPDLSPRIVDGIEDGNSSEESQTFDFGSERIRSEPRISPPLGDPEIGAAVL
                     FIKAEETKQQINKLNSEVTTLTQEVSQLGKDMRNVIQLLENVLSPQQPSRFCSLHSTS
                     VCPSRESLQTRTSWSAHQPCLHLQTGGAAYTQAQLCSSNITSDIWSVDPSSVGSSPQR
                     TGAHEQNPADSELYHSPSLDYSPSHYQVVQEGHLQFLRCISPHSDSTLTPLQSISATL
                     SSSVCSSSETSLHLVLPSRSEEGSFSQGTVSSFSLENLPGSWNQEGMASASTKPLENL
                     PLEVVTSTAEVKDNKAINV"
     exon            287..520
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            521..652
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            653..780
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            781..1021
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1179
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1387
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1585
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1785
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1786..2035
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2036..2250
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2251..2289
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..2645
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2646..2752
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2753..2829
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     exon            2830..5077
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5058..5063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /note="hexamer: ATTAAA"
     polyA_site      5077
                     /gene="KCNH8"
                     /gene_synonym="ELK; ELK1; elk3; hElk-1; Kv12.1"
                     /note="major polyA site"
ORIGIN      
        1 gctcttgggg ctcctcctgc cacagccggg gcggctggaa ctctctccct ttctccctcc
       61 atccttccac ttcccctgct cggccccgcc gtcaggccgg gtcccccttc cctgccgtca
      121 tcaggttccc cttctccctt cttggcactt tcctttcgaa ccatccttct ggacaaactt
      181 tgatggagaa tttcacacca cgctggaaaa atgccggtta tgaaaggatt actggcgccg
      241 caaaacacct tcctggacac catcgccacc cgttttgacg gaacacatag caacttcatc
      301 cttgccaatg cccaggtggc taagggtttc cccatagtct actgttccga tggcttctgc
      361 gagcttgctg gatttgcccg aactgaagtc atgcagaaga gttgtagctg caagttctta
      421 tttggggttg aaaccaatga gcaactgatg cttcaaatag aaaagtcact ggaggagaaa
      481 acagaattca aaggagaaat tatgttctac aagaaaaacg ggtctccatt ttggtgccta
      541 ctggatattg ttcccataaa gaatgaaaaa ggagatgtag tactttttct ggcctcgttc
      601 aaagatataa cagatacaaa agtgaagatt actccagaag ataaaaaaga agacaaagtc
      661 aaaggaagat caagagcagg gacccacttt gactcagccc ggagacggag tcgagcagtc
      721 ctttatcaca tctctgggca cctgcaaaga agagaaaaga acaaattgaa aataaataac
      781 aatgtttttg tagataaacc agcatttccg gagtataaag tttctgatgc aaaaaagtcc
      841 aaattcatac ttctgcattt tagcactttt aaagctggct gggactggct tattttgttg
      901 gcaacgtttt atgttgctgt gactgtacct tacaacgttt gctttattgg caatgacgac
      961 ctgtccacaa ctcggagcac aaccgtcagt gacattgcag tggagattct ttttattata
     1021 gatattattt taaatttccg aacaacttat gtcagcaagt ctggccaagt tatctttgaa
     1081 gcaagatcaa tttgcatcca ctatgtcaca acctggttca tcattgattt aatcgctgcc
     1141 ctgccttttg atcttctgta tgctttcaac gtcacagtgg tgtctctcgt gcatcttcta
     1201 aagacagtgc gcctcttgcg tcttttgcgt ctgctgcaga agttagaccg ctattcccaa
     1261 cacagtacta tcgtcctgac tctgctcatg tccatgtttg cactccttgc acactggatg
     1321 gcgtgtatct ggtacgtcat tggaaaaatg gagagggaag acaacagcct tctgaagtgg
     1381 gaagttggtt ggcttcatga gttgggaaag agactggaat ctccatacta tggcaacaat
     1441 accttggggg gcccgtcgat ccgaagtgcc tatattgccg ctctgtactt cacgctgagc
     1501 agcctcacca gcgtgggttt tgggaacgtc tctgctaata cagatgcaga aaagatcttc
     1561 tccatctgca ccatgctgat tggtgccttg atgcacgcct tggtgtttgg aaacgtgaca
     1621 gcaatcatac agaggatgta ctccagatgg tccctctatc acactagaac taaggatctg
     1681 aaagatttca tccgtgtcca tcacttgccc caacaactca agcagaggat gctcgaatat
     1741 tttcaaacaa cctggtcagt caacaatgga atagattcaa atgagctttt gaaagacttt
     1801 ccagatgaac tgcgttctga catcactatg cacttgaaca aggagatctt acagttgtcc
     1861 ctttttgaat gtgccagccg gggctgcctc aggtctctgt ctctacacat caaaacctct
     1921 ttctgtgctc cgggggagta tctgctgcgt caaggggatg ctttgcaggc catctacttt
     1981 gtatgctcgg gctccatgga agttcttaaa gacagcatgg tgctggctat tcttgggaaa
     2041 ggggatttaa ttggagcaaa tctatcaatt aaggaccaag tgatcaagac caatgcagat
     2101 gtaaaggctt taacctactg tgatctccag tgtatcatcc tcaaaggact ctttgaagtg
     2161 ctagaccttt acccagaata tgctcacaaa ttcgtggaag acattcagca tgacctcaca
     2221 tacaacctcc gagaaggtca tgagagtgat gtgatatcaa gactatcaaa caaatctatg
     2281 gtctcacagt cagagcccaa gggaaatggc aacatcaaca agcgactccc atccattgtg
     2341 gaagatgagg aagaggagga ggagggggag gaagaggagg cagtctccct ctctcccatc
     2401 tgcacaaggg gatcttcttc gcgcaacaag aaggttggaa gcaataaagc ctacctgggc
     2461 ttaagcttaa agcaactggc ctcgggaacg gtgccctttc actcgcctat cagagtctcc
     2521 aggtcaaatt cccccaaaac caagcaggaa attgaccccc ccaaccataa taaaaggaaa
     2581 gagaagaact tgaaattgca actttcaact ttgaataatg ctggaccccc agacctcagt
     2641 ccaaggattg ttgatggaat tgaagatgga aacagcagtg aagaaagtca gacttttgat
     2701 tttggctctg aacgaatcag atcagagccc agaatttctc ctcctcttgg agatccagag
     2761 attggagctg ctgttctctt catcaaagca gaggagacca agcagcagat aaacaaactc
     2821 aacagtgagg taacaacatt gactcaggaa gtttctcagt tgggtaaaga catgagaaat
     2881 gtgatccagc ttctggaaaa cgttctgtca cctcagcagc catcacggtt ttgctctttg
     2941 cacagcacct ctgtgtgtcc ctccagggag agcttacaga ccagaacgag ctggagtgca
     3001 caccagcctt gcctacactt gcaaacaggc ggggctgctt atacccaagc acaactttgt
     3061 agcagtaata tcacctcaga catttggagt gtggatccct cctctgtggg gagcagcccc
     3121 caacgaactg gagctcatga gcaaaatcct gcagacagtg aactttatca ttctccaagc
     3181 cttgattatt caccttccca ctaccaggtt gtccaagaag gtcatttgca atttttaagg
     3241 tgcatctctc cacattcaga ttctacgttg acgcctctgc agtccatttc agcaactctc
     3301 tcatcttctg tctgctcctc ttcggaaaca tctttgcacc tagttctccc aagcagatca
     3361 gaggagggca gcttcagtca gggaactgtg agttccttca gtctggaaaa cttaccagga
     3421 tcttggaacc aggaaggaat ggcatcagct tctacaaaac ctttggagaa ccttccactg
     3481 gaagttgtca caagcacagc agaagtgaaa gataacaaag ccataaatgt atgatattag
     3541 tgcccatgat gcagcagcta atttcaaacc taccactgca tgacagtttt agtttgcctt
     3601 tttgcctctg gtgggcatga agactgagca aagctgggaa tcctgcagaa aagagtgtga
     3661 ggagccaggg aaaggcagaa ccacctccat gctgtagcaa acaatttcta gatactagaa
     3721 gcataataga aacatttttc tgtacaggta ttaaactact ggtctgtttg acagactttg
     3781 gtaacaatcc aaagaccctg agggtctgag cagctagaag tcctagacaa agaacttgtg
     3841 gatgactttt gtcccatgtg gcttttgtga agtatggcaa aggtttttca tgagtgcctg
     3901 attgttattc ctgaacaata tccatagcac tgttggcctc aggagtgcac agctcctgct
     3961 gatgtatttt tctttttgtg aaggcaaagg gacaattatc actgcatgtc atctcctaga
     4021 caatcagtca aatagagctg gtggccagtg gttagctatt cgcacgttat ttgccatgta
     4081 aatgaaaacg tctttattta tcaaaaaaac acagaggcta tttttatatc cttggtatga
     4141 aatatgtatt taaactattt aaatatttat aaagaaatga atgttttctt ttcattttgg
     4201 taaaaaaaaa gcttgctgtt ttaacaagaa atgcactact gttgtgtata gtagatcaaa
     4261 aattatttat tactaagagg atgtagtttc caaaggaatc ccccattttt tctgcatgca
     4321 gtttgcaaca aatgtattct catgcttctg gattataaaa gaaaagtgaa gtcatatttt
     4381 gttaatgaaa taaaaacatg gactgagtgt caactacatg agctttggca tggggataga
     4441 gaggctccat ctaggctctg ccaactcatg tcaatgacat gatttaaggt cgttgtgcca
     4501 gcagaaatgt ctctcctcta ggtatcgtat tttgttgctc aagaatccaa aatgggtctg
     4561 tggacatagg gcaatttggg gctcaaagtg agggagaaaa cctgggtgtg tcctttccca
     4621 gtgcttttct tttacaagag gtagtagact agtggaaatc cccaaatgga gccaagactt
     4681 ctgagctata acttgtggga gtaataccag cttgcaatgg gtcagcactt tacctttttt
     4741 ctttaaggct cccaacaatg ctatacagcg cagttgtttc cattcctatt tttaataaat
     4801 ctcaggggaa gcctcagaga ttacacagtt aggatgctga cacagtctag aatccataat
     4861 gctccctaca tctcacacta acaggcaaat tcagatgctg ggattggcaa tgatttaagc
     4921 accttcacta aagtcttatt ttatgtttta gaacagttac agtctaattg tcttggacat
     4981 tttgggaaga tatattgggt tcacattctg gagttctctt tattttccac cacaaaaaat
     5041 aatctgagaa ttgtatcatt aaaagtatct aaacaca
//
