LOCUS       NM_001322799            5447 bp    mRNA    linear   PRI 08-DEC-2024
DEFINITION  Homo sapiens potassium voltage-gated channel modifier subfamily S
            member 1 (KCNS1), transcript variant 2, mRNA.
ACCESSION   NM_001322799 XM_005260409
VERSION     NM_001322799.2
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 5447)
  AUTHORS   Langford,D.J., West,C., Elboim,C., Cooper,B.A., Abrams,G.,
            Paul,S.M., Schmidt,B.L., Levine,J.D., Merriman,J.D., Dhruva,A.,
            Neuhaus,J., Leutwyler,H., Baggott,C., Sullivan,C.W., Aouizerat,B.E.
            and Miaskowski,C.
  TITLE     Variations in potassium channel genes are associated with breast
            pain in women prior to breast cancer surgery
  JOURNAL   J Neurogenet 28 (1-2), 122-135 (2014)
   PUBMED   24392765
  REMARK    GeneRIF: For KCNS1 rs4499491, individuals homozygous for the rare A
            allele (CC+ CA versus AA) had a 3.0-fold increase in the odds of
            reporting preoperative breast pain.
REFERENCE   2  (bases 1 to 5447)
  AUTHORS   George,S.Z., Parr,J.J., Wallace,M.R., Wu,S.S., Borsa,P.A., Dai,Y.
            and Fillingim,R.B.
  TITLE     Biopsychosocial influence on exercise-induced injury: genetic and
            psychological combinations are predictive of shoulder pain
            phenotypes
  JOURNAL   J Pain 15 (1), 68-80 (2014)
   PUBMED   24373571
  REMARK    GeneRIF: There was moderate statistical evidence for interactions
            shoulder pain phenotypes between KCNS1 and depressive symptoms,
            pain catastrophizing, or kinesiophobia
REFERENCE   3  (bases 1 to 5447)
  AUTHORS   Hendry,L., Lombard,Z., Wadley,A. and Kamerman,P.
  TITLE     KCNS1, but not GCH1, is associated with pain intensity in a black
            southern African population with HIV-associated sensory neuropathy:
            a genetic association study
  JOURNAL   J Acquir Immune Defic Syndr 63 (1), 27-30 (2013)
   PUBMED   23314412
  REMARK    GeneRIF: Several haplotypes of population-specific tagSNPs
            correlated with pain intensity in black southern African population
            with HIV-associated sensory neuropathy.
REFERENCE   4  (bases 1 to 5447)
  AUTHORS   Lee,H.J., Woo,H.G., Greenwood,T.A., Kripke,D.F. and Kelsoe,J.R.
  TITLE     A genome-wide association study of seasonal pattern mania
            identifies NF1A as a possible susceptibility gene for bipolar
            disorder
  JOURNAL   J Affect Disord 145 (2), 200-207 (2013)
   PUBMED   22925353
REFERENCE   5  (bases 1 to 5447)
  AUTHORS   Costigan,M., Belfer,I., Griffin,R.S., Dai,F., Barrett,L.B.,
            Coppola,G., Wu,T., Kiselycznyk,C., Poddar,M., Lu,Y., Diatchenko,L.,
            Smith,S., Cobos,E.J., Zaykin,D., Allchorne,A., Gershon,E.,
            Livneh,J., Shen,P.H., Nikolajsen,L., Karppinen,J., Mannikko,M.,
            Kelempisioti,A., Goldman,D., Maixner,W., Geschwind,D.H., Max,M.B.,
            Seltzer,Z. and Woolf,C.J.
  TITLE     Multiple chronic pain states are associated with a common amino
            acid-changing allele in KCNS1
  JOURNAL   Brain 133 (9), 2519-2527 (2010)
   PUBMED   20724292
  REMARK    GeneRIF: Thia study presented the KCNS1 allele rs734784 as one of
            the first prognostic indicators of chronic pain risk.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Brain. 2011 Jul;134(7):2186. Gershon, Edith [added];
            Livneh, Jessica [added]]
REFERENCE   6  (bases 1 to 5447)
  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 5447)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   8  (bases 1 to 5447)
  AUTHORS   Fossey,S.C., Mychaleckyj,J.C., Pendleton,J.K., Snyder,J.R.,
            Bensen,J.T., Hirakawa,S., Rich,S.S., Freedman,B.I. and Bowden,D.W.
  TITLE     A high-resolution 6.0-megabase transcript map of the type 2
            diabetes susceptibility region on human chromosome 20
  JOURNAL   Genomics 76 (1-3), 45-57 (2001)
   PUBMED   11549316
REFERENCE   9  (bases 1 to 5447)
  AUTHORS   Shepard,A.R. and Rae,J.L.
  TITLE     Electrically silent potassium channel subunits from human lens
            epithelium
  JOURNAL   Am J Physiol 277 (3), C412-C424 (1999)
   PUBMED   10484328
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z93016.2, AK289735.1 and
            CA449742.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001322799.1.
            
            Summary: Voltage-gated potassium channels form the largest and most
            diversified class of ion channels and are present in both excitable
            and nonexcitable cells. Their main functions are associated with
            the regulation of the resting membrane potential and the control of
            the shape and frequency of action potentials. The alpha subunits
            are of 2 types: those that are functional by themselves and those
            that are electrically silent but capable of modulating the activity
            of specific functional alpha subunits. The protein encoded by this
            gene is not functional by itself but can form heteromultimers with
            member 1 and with member 2 (and possibly other members) of the
            Shab-related subfamily of potassium voltage-gated channel proteins.
            This gene belongs to the S subfamily of the potassium channel
            family. [provided by RefSeq, Jul 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC132957.1, AK289735.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537075.3/ ENSP00000445595.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                Z93016.2           101894-101911       c
            19-2147             AK289735.1         1-2129
            2148-5441           Z93016.2           92004-95297         c
            5442-5447           CA449742.1         15-20               c
FEATURES             Location/Qualifiers
     source          1..5447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q13.12"
     gene            1..5447
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /note="potassium voltage-gated channel modifier subfamily
                     S member 1"
                     /db_xref="GeneID:3787"
                     /db_xref="HGNC:HGNC:6300"
                     /db_xref="MIM:602905"
     exon            1..207
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /inference="alignment:Splign:2.1.0"
     exon            208..286
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             211..1791
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /note="potassium voltage-gated channel subfamily S member
                     1; voltage-gated potassium channel subunit Kv9.1;
                     delayed-rectifier K(+) channel alpha subunit 1; potassium
                     voltage-gated channel, delayed-rectifier, subfamily S,
                     member 1; delayed-rectifier potassium channel subunit
                     Kv9.1"
                     /codon_start=1
                     /product="delayed-rectifier potassium channel regulatory
                     subunit KCNS1"
                     /protein_id="NP_001309728.1"
                     /db_xref="CCDS:CCDS13342.1"
                     /db_xref="GeneID:3787"
                     /db_xref="HGNC:HGNC:6300"
                     /db_xref="MIM:602905"
                     /translation="MLMLLVRGTHYENLRSKVVLPTPLGGRSTETFVSEFPGPDTGIR
                     WRRSDEALRVNVGGVRRQLSARALARFPGTRLGRLQAAASEEQARRLCDDYDEAAREF
                     YFDRHPGFFLSLLHFYRTGHLHVLDELCVFAFGQEADYWGLGENALAACCRARYLERR
                     LTQPHAWDEDSDTPSSVDPCPDEISDVQRELARYGAARCGRLRRRLWLTMENPGYSLP
                     SKLFSCVSISVVLASIAAMCIHSLPEYQAREAAAAVAAVAAGRSPEGVRDDPVLRRLE
                     YFCIAWFSFEVSSRLLLAPSTRNFFCHPLNLIDIVSVLPFYLTLLAGVALGDQGGKEF
                     GHLGKVVQVFRLMRIFRVLKLARHSTGLRSLGATLKHSYREVGILLLYLAVGVSVFSG
                     VAYTAEKEEDVGFNTIPACWWWGTVSMTTVGYGDVVPVTVAGKLAASGCILGGILVVA
                     LPITIIFNKFSHFYRRQKALEAAVRNSNHQEFEDLLSSIDGVSEASLETSRETSQEGQ
                     SADLESQAPSEPPHPQMY"
     exon            287..1320
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..5447
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4334..4339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /note="hexamer: AATAAA"
     polyA_site      4352
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /note="major polyA site"
     regulatory      5420..5425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
                     /note="hexamer: AATAAA"
     polyA_site      5447
                     /gene="KCNS1"
                     /gene_synonym="hKv9.1; Kv9.1"
ORIGIN      
        1 ctcactccct cctccggcag cgatcgatgc ggccttcagc cgcgggggac taggcaagga
       61 agaaggaagg agagggcagc ggggccgcct gcagcaggag gctcggcggg gccggcgggg
      121 cagaggcgag accgagtata gccagcggct cccagcctcg gtggctttgg gacagacacg
      181 cgaggcgccc gggaggtgcc accacaggtg atgctgatgc tgctggtccg gggaacacac
      241 tatgagaacc tccggtctaa agtggtgctg ccaacacccc taggagggag gagcactgaa
      301 acctttgtga gcgagttccc gggccccgac accgggatcc gctggcggcg aagcgacgag
      361 gcgctgcgcg tgaacgtggg tggcgtgcgg cggcagctga gcgcgcgcgc cctggcgcgc
      421 ttcccgggca cgcggctggg ccgcctgcag gccgcggcgt cggaggagca ggcgcggcgc
      481 ctgtgcgacg actacgacga ggcggcgcgc gaattctact tcgaccggca cccgggcttc
      541 ttcctgagcc tgctgcactt ctaccgcact ggccacctgc acgtgctcga cgagctgtgc
      601 gtcttcgcct ttggccagga ggccgactac tggggcctag gcgagaacgc gcttgccgcg
      661 tgctgccgcg cgcgctacct ggagaggcgg ctgacccagc cgcacgcctg ggacgaggac
      721 agcgacacgc cgagcagcgt ggacccgtgc cccgacgaga tctccgacgt gcagcgagaa
      781 ctggcgcgct atggcgcggc gcgctgtggc cgcctgcgcc gccgcctctg gctgaccatg
      841 gagaacccgg gctactcgct gccgagcaag ctcttcagct gcgtctccat cagcgtggtg
      901 ctcgcctcca tcgccgccat gtgcatccac agcctgcccg agtaccaggc ccgcgaggcg
      961 gcggccgccg tggctgcggt ggccgcgggc cgcagcccgg aaggcgtgcg cgacgacccg
     1021 gtgctgcgac gcctcgagta cttctgcatc gcctggttca gcttcgaggt gtcgtcgcgc
     1081 ctcctgctgg cgcccagtac gcgcaacttc ttctgccacc cgctcaacct catcgacatt
     1141 gtgtctgtgc tgcccttcta tctcacgctg ctggctggtg tggcactggg cgaccagggc
     1201 ggcaaggagt tcggccacct gggcaaggtg gtgcaggtgt tccgcctcat gcgcatcttc
     1261 cgcgtactca agttggcgcg ccattccacc gggctgcgct cgctgggagc cacgctcaag
     1321 cacagctacc gtgaggtggg catcttgctg ctgtacctgg ctgtgggtgt gtcagtgttc
     1381 tctggtgtgg cctacacagc tgaaaaggag gaggacgtgg gctttaacac catcccagcc
     1441 tgctggtggt ggggcacagt gagcatgacc accgtgggct atggggatgt ggtgccagtg
     1501 acggtggctg gcaagctggc agcctcaggc tgcatcctag ggggcatcct ggtggtagca
     1561 ctccccatca ccatcatctt caacaagttc tcccacttct accggcgcca gaaggctctg
     1621 gaggcagccg tgcgcaacag caaccaccaa gagtttgagg acttgctgag cagcattgat
     1681 ggggtgtcgg aggcatctct ggagacatcc cgagaaacct ctcaggaggg acagtctgca
     1741 gatctagaga gccaggcccc cagtgagcct ccacaccctc agatgtatta aaaccaggga
     1801 tccgtgaccc cctgccatgc ccctacagta gagattcctc ccctgctaaa gttcttcatg
     1861 gtagtgagcc tcccaggatc actcatgctg tcctgagaaa tgagattcaa aagctgcatt
     1921 ccttcctcca aaggcccagg acaggacagt gctaccctag attctgtgag attctgcaag
     1981 caactcagaa agctttataa acctgcctcc aagccattca tgaagcaggc atgagccaga
     2041 gggaggaagt tgaaaggata ctaatgattc ctgagcacct cctgtacatg aaccaggtca
     2101 tgtttggcct tgtgttggag aaagagaatt atccccactt cacagatgag gaaaccaagg
     2161 ctaagagatg agcgatgcct ctcccagatg tcacaattag aagtggcaga gtcaggtttg
     2221 gaatctgggc ttgttggtgt gcctggagca atgctccatc aactccatct ttcttctgcc
     2281 ctcatgaagt ttgcgtgtgt tttttggtga ttcatggatc cccagagttg atccacaaga
     2341 taagaaatcc ctttcagagc cagggaaggg tccagacagg agatttggat ataggagctc
     2401 tggatctcag ctgtggttcc tttctaggag catccaacag gagtcagcaa tcaaagatga
     2461 gtcctggagg gaaggaggat gagtcctggg aggaagtacc atagcattgt acttgcctct
     2521 ttagctggta tgcaagattt gctaagcaat aatcttccga ccttcctccc agggctgatg
     2581 tgagagaaag aaaatctgaa gggcccctgg cctgagatct agacaaccta gctgcgccaa
     2641 gacctgctgt gtaaagtggt ccaatccctg cccccaagtc cagattccag cccctctgtc
     2701 aaatggtcag aatctgtgac ccagagggca atgaaagcca aggagagcag aggggtctct
     2761 aacttaaagc cagctcagct ctgaaatgtt cagagggctg acatatatga atactggctt
     2821 ctaagaccct cccccaacag tctgaccttg gcagttcctt tctgcccatc acacagacgt
     2881 ccagccctac attgtccagc cctacctaga gtacccatcc aggcccatgt gtgagagtcc
     2941 tctcccttct ggccagctcc agccccctca cccttgctgg gggcatatct ctcataccca
     3001 cctgctgaat cttctcttca cttgctgaga aagtcagagg aggggatcca gtagcccttt
     3061 ccacatactg tggctacagc acccagcact gtgctgttgt tgtctgactg tggctatctc
     3121 tgtcccatca ccctgagcct caagatggaa gacattgtct gcttgaactc tgggcttggt
     3181 gcagagtagg tatttggtaa atgttgaata gatcaaccaa ttcctacagc ccactgggtg
     3241 ccaagctcag agggggaaaa aaagatagcc agagagagac ctggccctca aaaaggtgtg
     3301 aacaagactg aaaaggaggt ccgttcagct ccgcctgccc tgtccctgct tggttcttga
     3361 agtttttaca atatattcct tgtaggttct tcactcactc actcaacaaa tacccgttgg
     3421 aagagtctta aactggggct tcatgtgtgg cctgcagtca tgtttcggct tagtccaaca
     3481 gtgtttttat tatattttaa gaatctgaat gcctttgcgt gaggcatgca ctctcaggtt
     3541 ccccatagtg tctcccccgc tgccacccac aaacagacac acatgccgtt gtgttatgcc
     3601 cagccactct gatatactgg cttctgactt atgggctgct tactagtctc aagagataca
     3661 gtggtggaaa aatatatccc tatactcatg aagcttaccg actagtaggg aagatagact
     3721 ctaatgcaat aatcacataa atatagcgag ctctactaag tacaggtgtg tataatgtat
     3781 cagggaccat ggcccgagaa agtgagaagg ctttcctgag caagtgacaa tctaacctgc
     3841 catccaaatg ataaattgct aattaagcaa atgaggttcc aggggggagt actccaagca
     3901 gagagaatgg catgtgtgaa ggtgtgtgtc atacacaggg cctagtacat agtgggcccc
     3961 ctacatacgc atggattctg ggtctccaga ttggaacaga ggatggagct aagcagcaaa
     4021 gggcctccct tgaattcacc acacacatac cagcccttct gcacactctg ctccttacat
     4081 ctaggcccag ctgaacccag gttaggggca gatcagaagg gctgcgtgta gcacccttat
     4141 ggtcttgcag aacacaccaa gaaacccgac ggcttccata ttttctgacc ctacaaacag
     4201 gtccctaata ctgatgtgga gaaagctcaa gagggaatca tctggcctga gcctaccatg
     4261 aggctgtttg tggtcctggc agaaaagcaa caactcgctc cccttcccat gtatcagtga
     4321 aaaccattat gcaaataaag agctgggccc caggacgtgt ttctgcttgt atggagatgg
     4381 ctccctgaca tgctgtctga gtgattggag agggtgggca atatgtggaa tgacttggaa
     4441 tccacattct caggctccag tcctggattt ggcacaaact ttgtggttgt gccagccaga
     4501 acaggttgca agtgacagga attcagttgg aacaaacttg gtcaaaaagg gtaatttata
     4561 aaataattaa agtgatgaat gactgttaac aattagagtt tgagggtata agcaacaaac
     4621 tgacatcaag caaaaaatga atttattgga agatatatta gtttccagca gctgctgtaa
     4681 caaattcaaa caaacttgat ggcttaaaac agtagaagtg tattctctga cagttctgga
     4741 ggccagaaat ccaaaatcaa gatgtcagca gggccaccct ccctctggag actccagggg
     4801 gaaaccctct ccttttctct tctagtttgt ggtggctgcc accattcttg gctttccttg
     4861 gctgtggctg catcactcaa gtctctgcct ctgatctcac ttcagtgtct gtgtatgtca
     4921 agtcttccag tgcctctgtc ttacaaggac acttttgatg acatttaggc ccaccaggat
     4981 aatccaagat gacctcatct caggatcctt aacttaacca catttgcaaa aagacccttt
     5041 cccaaataag gtaatagtta cgggttccag agattaaaat atggacaggt gtttggggcc
     5101 accatctggc ccactacaga agggtatctg tgaaattcac ccgaccaaag gaagagctga
     5161 ctgacgaggc ctcaggaaat acaggaatga ggggagctct agggacctca gtagcaagac
     5221 tcatgaacct tctgtttaag acactgctac ccacatgatc tgcctccagt caacttcctt
     5281 ccctgtatca tcctgctcac agttccaatc ccaggagaga gtctgatttc acttgagtca
     5341 tatgcctctc tcttgggagg gatggagggc aaggtaccgt attagtattt gcggcagttg
     5401 gaggaaaggt acttacccaa ataaaagacc acctattgtc accaaaa
//
