U.S. flag

An official website of the United States government

Homo sapiens potassium channel tetramerization domain containing 3 (KCTD3), transcript variant 3, mRNA

NCBI Reference Sequence: NM_001319295.2

FASTA Graphics 

LOCUS       NM_001319295            4085 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 3
            (KCTD3), transcript variant 3, mRNA.
ACCESSION   NM_001319295
VERSION     NM_001319295.2
KEYWORDS    RefSeq.
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 4085)
  AUTHORS   Faqeih,E.A., Almannai,M., Saleh,M.M., AlWadei,A.H., Samman,M.M. and
            Alkuraya,F.S.
  TITLE     Phenotypic characterization of KCTD3-related developmental
            epileptic encephalopathy
  JOURNAL   Clin Genet 93 (5), 1081-1086 (2018)
   PUBMED   29406573
  REMARK    GeneRIF: this largest series to date on KCTD3-mutated patients, we
            show that biallelic loss of function mutations in KCTD3 lead to a
            consistent phenotype of developmental epileptic encephalopathy and
            abnormal cerebellum on brain imaging.
REFERENCE   2  (bases 1 to 4085)
  AUTHORS   Alazami,A.M., Patel,N., Shamseldin,H.E., Anazi,S., Al-Dosari,M.S.,
            Alzahrani,F., Hijazi,H., Alshammari,M., Aldahmesh,M.A., Salih,M.A.,
            Faqeih,E., Alhashem,A., Bashiri,F.A., Al-Owain,M., Kentab,A.Y.,
            Sogaty,S., Al Tala,S., Temsah,M.H., Tulbah,M., Aljelaify,R.F.,
            Alshahwan,S.A., Seidahmed,M.Z., Alhadid,A.A., Aldhalaan,H.,
            AlQallaf,F., Kurdi,W., Alfadhel,M., Babay,Z., Alsogheer,M.,
            Kaya,N., Al-Hassnan,Z.N., Abdel-Salam,G.M., Al-Sannaa,N., Al
            Mutairi,F., El Khashab,H.Y., Bohlega,S., Jia,X., Nguyen,H.C.,
            Hammami,R., Adly,N., Mohamed,J.Y., Abdulwahab,F., Ibrahim,N.,
            Naim,E.A., Al-Younes,B., Meyer,B.F., Hashem,M., Shaheen,R.,
            Xiong,Y., Abouelhoda,M., Aldeeri,A.A., Monies,D.M. and
            Alkuraya,F.S.
  TITLE     Accelerating novel candidate gene discovery in neurogenetic
            disorders via whole-exome sequencing of prescreened multiplex
            consanguineous families
  JOURNAL   Cell Rep 10 (2), 148-161 (2015)
   PUBMED   25558065
REFERENCE   3  (bases 1 to 4085)
  AUTHORS   Cao-Ehlker,X., Zong,X., Hammelmann,V., Gruner,C., Fenske,S.,
            Michalakis,S., Wahl-Schott,C. and Biel,M.
  TITLE     Up-regulation of hyperpolarization-activated cyclic
            nucleotide-gated channel 3 (HCN3) by specific interaction with K+
            channel tetramerization domain-containing protein 3 (KCTD3)
  JOURNAL   J Biol Chem 288 (11), 7580-7589 (2013)
   PUBMED   23382386
  REMARK    GeneRIF: KCTD3 is an accessory subunit of native HCN3 complexes
REFERENCE   4  (bases 1 to 4085)
  AUTHORS   Poot,M., Beyer,V., Schwaab,I., Damatova,N., Van't Slot,R.,
            Prothero,J., Holder,S.E. and Haaf,T.
  TITLE     Disruption of CNTNAP2 and additional structural genome changes in a
            boy with speech delay and autism spectrum disorder
  JOURNAL   Neurogenetics 11 (1), 81-89 (2010)
   PUBMED   19582487
REFERENCE   5  (bases 1 to 4085)
  AUTHORS   Lehner,B. and Sanderson,C.M.
  TITLE     A protein interaction framework for human mRNA degradation
  JOURNAL   Genome Res 14 (7), 1315-1323 (2004)
   PUBMED   15231747
REFERENCE   6  (bases 1 to 4085)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL365315.8, HY029594.1,
            BC143963.1, BC094879.1 and CK902987.1.
            
            On May 31, 2019 this sequence version replaced NM_001319295.1.
            
            Summary: This gene encodes a member of the potassium channel
            tetramerization-domain containing (KCTD) protein family. Members of
            this protein family regulate the biophysical characteristics of ion
            channels. In mouse, this protein interacts with
            hyperpolarization-activated cyclic nucleotide-gated channel complex
            3 and enhances its cell surface expression and current density.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Feb 2016].
            
            Transcript Variant: This variant (3) differs in the 5' UTR, lacks a
            portion of the 5' coding region and uses an  alternate start codon,
            compared to variant 1. It encodes isoform 3, which has a shorter
            and distinct C-terminus, compared to isoform 1.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803611.55845.1 [ECO:0000331]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-75                AL365315.8         48758-48832
            76-193              HY029594.1         2-119
            194-979             BC143963.1         1-786
            980-3843            BC094879.1         782-3645
            3844-4085           CK902987.1         24-265              c
FEATURES             Location/Qualifiers
     source          1..4085
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q41"
     gene            1..4085
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="potassium channel tetramerization domain containing
                     3"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
     exon            1..465
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            466..519
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            520..565
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            566..639
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            640..698
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            699..851
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    743..745
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="upstream in-frame stop codon"
     CDS             761..2896
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="isoform 3 is encoded by transcript variant 3;
                     NY-REN-45 antigen; BTB/POZ domain-containing protein
                     KCTD3; renal carcinoma antigen NY-REN-45; potassium
                     channel tetramerisation domain containing 3"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD3 isoform
                     3"
                     /protein_id="NP_001306224.1"
                     /db_xref="GeneID:51133"
                     /db_xref="HGNC:HGNC:21305"
                     /db_xref="MIM:613272"
                     /translation="MFLVRRLLLCEELERSSCGSVLFHGYLPPPGIPSRKINNTVRSA
                     DSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGFPVDPRKVLIVAGHHNWIVAAYAHF
                     AVCYRIKESSGWQQVFTSPYLDWTIERVALNAKVVGGPHGDKDKMVAVASESSIILWS
                     VQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKVGVWNAVTQHWQVQDVVPITS
                     YDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELYHDPSNDAITALSVYLTPK
                     TSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVHRSPVTKIMLSEKHLVS
                     VCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHGSYSSGNDIGPFGER
                     DDQQVFIQKVVPITNKLFVRLSSTGKRICEIQAVDCTTISSFTVRECEGSSRMGSRPR
                     RYLFTGHTNGSIQMWDLTTAMDMVNKSEDKGGPTEEELLKLLDQCDLSTSRCATPNIS
                     PATSVVQHSHLRESNSSLQLQHHDTTHEAATYGSMRPYRESPLLARARRTESFHSYRD
                     FQTINLNRNVERAVPENGNLGPIQAEVKGATGECNISERKSPGVEIKSLRELDSGLEV
                     HKIAEGFSESKKRSSEDENENKIEFRKKGGFEGGGFLGRKKVPYLASSPSTSDGGTDS
                     PGTASPSPTKTTPSPRHKKSDSSGQEYSL"
     exon            852..989
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1080
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1271
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1387
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1388..1475
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1592
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1763
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1919
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            1920..2016
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            2017..2201
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            2202..2334
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     exon            2335..4085
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3990..3995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: AATAAA"
     polyA_site      4009
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="major polyA site"
     regulatory      4057..4062
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: ATTAAA"
     regulatory      4066..4071
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="hexamer: AATAAA"
     polyA_site      4076
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
     polyA_site      4085
                     /gene="KCTD3"
                     /gene_synonym="NY-REN-45"
                     /note="major polyA site"
ORIGIN      
        1 attctaggcg gcagtggcgg gcgaagcgtg agcgctgcgg tattttgtcc cgaacggtga
       61 cccctcctcc caggcaggct gcggcggcgt cggtggcagc ggagcacgga gaagaggccc
      121 gggcggcccg gcggcctgga ggccgcgaaa ggtggaggcc gggccgccct tgtgcaccgc
      181 aggattgacc cgggaagggg cagaagctag cgagccccgc ccggccgccg ggaaggtggg
      241 ggaagccccg tgcacccccc gccctccggc cgccgccgcc ccgctggccc tgcagccgtc
      301 gccgctgcct cgggctacag ccccgggctc ggcggtcccg gctggggaag gagggcggcg
      361 agcgcgtccg gagccgccgg agatggcggg agggcactgc ggcagcttcc ccgcggcggc
      421 ggccggcagc ggcgagatcg tccaactgaa cgtagggggg accagattta gtacctcaag
      481 acaaactctt atgtggattc cagattcttt tttttccagt ttgctgagtg ggagaatttc
      541 aacacttcga gatgaaactg gtgctatatt tattgataga gatccagcag catttgcacc
      601 cattttaaat tttcttcgga caaaagaact agacttaagg ggagtgagta ttaatgttct
      661 caggcatgaa gcagaatttt acgggatcac tccattagag aaaataaaaa tggagtactg
      721 tttttctgtt tgcatgtact cttgacaagt ttgctttgaa atgtttttag taagaaggct
      781 tctcttatgt gaagaattgg agcgttcctc ttgtggcagt gtcctttttc atggttactt
      841 gcccccacca ggtattccta gtcgtaaaat aaacaacaca gtcagatctg ctgattctag
      901 gaatggtcta aattctacag aaggtgaagc ccggggaaat ggtacacagc ctgttctctc
      961 tggaacggga gaagaaactg ttaggctagg atttcctgtg gatccacgaa aggtgctaat
     1021 agtagctggc catcacaact ggattgtagc tgcatatgcc cattttgctg tgtgttacag
     1081 aatcaaagaa tcttcaggat ggcagcaagt gtttacgagc ccatatttgg attggactat
     1141 cgaacgagta gctttaaatg caaaggtggt tggagggcca catggagaca aagacaaaat
     1201 ggttgctgtt gcctcagaga gtagcatcat cttgtggagt gttcaggatg ggggaagtgg
     1261 aagtgaaatt ggagtgttca gcctgggtgt tcctgtagat gctctcttct ttattggtaa
     1321 ccagttggtg gccacgagtc atacagggaa agtgggagtg tggaatgctg tcactcagca
     1381 ctggcaggtt caagatgttg ttcctataac tagttatgac actgctggat cattccttct
     1441 gcttggatgt aacaatggat caatatatta catagatatg cagaagttcc ccttgcgaat
     1501 gaaagataat gatcttcttg taactgaact gtatcatgat ccttcaaatg atgctattac
     1561 tgctctgagt gtttacctca cacccaaaac aagtgtcagt ggtaactgga tcgagatcgc
     1621 ctatggtacg agctctggag cagtacgagt gattgtacaa cacccagaga cagttgggtc
     1681 aggtcctcag ctttttcaga ctttcacagt tcaccgaagt cccgtaacaa aaatcatgct
     1741 atcagagaag catcttgtat cagtctgtgc agataataat catgtccgga cgtggacagt
     1801 aacacgattc agaggaatga tctctactca gccaggttct actcctttag cgtcattcaa
     1861 gatactatcc ctggaggaga cagaaagtca tggtagctat tcctctggaa atgacatagg
     1921 accttttgga gagcgagacg atcaacaggt gtttatccag aaagttgttc ccatcaccaa
     1981 caaactattt gtaagactct catcgactgg aaaaagaata tgtgagatcc aggctgttga
     2041 ctgtactaca atatcctcat ttacagtgag ggaatgtgag ggatccagta ggatgggctc
     2101 aagaccaagg cgctacttgt tcacaggcca tacaaatggc agtattcaaa tgtgggatct
     2161 gaccactgct atggatatgg ttaacaaaag tgaagataag ggtggtccaa ccgaagaaga
     2221 gctactcaaa ttactcgatc aatgtgattt gagcacatct cgctgtgcta ctcctaacat
     2281 cagtccagca acttccgtag ttcagcatag ccacttacga gaatcaaatt ctagccttca
     2341 gcttcagcac catgatacca cccatgaagc agctacttac ggttccatga ggccttacag
     2401 agaaagtcct ttattagcaa gggcaagaag gactgagagc tttcacagtt atagggactt
     2461 ccagactatt aatttgaaca gaaatgtaga aagagctgtc cctgaaaatg gtaacttggg
     2521 tccaatacaa gctgaagtga aaggggcaac aggggaatgt aatatatctg agagaaagtc
     2581 tcctggagta gaaataaaaa gtttgagaga attggatagt ggattggaag tgcataaaat
     2641 agctgaaggt ttttcagaat ccaagaaaag gtcatcagaa gatgaaaatg aaaataaaat
     2701 agagtttagg aagaaaggag gatttgaagg gggaggattc cttggaagaa agaaagttcc
     2761 ctatctggcg tcatcaccaa gtacttccga tggaggaact gactcacctg gtactgcgtc
     2821 cccatctcct acaaagacta ctccatctcc tcggcataaa aaaagtgatt cttcaggtca
     2881 ggagtacagc ttgtgaaaac tcaccaaaat gaatagttgt ttcgttacat ttagatgaaa
     2941 gttaaacttt actgaatttc agtacattag tttttacact aaaactttac aagataaaat
     3001 tggacttcat ttagtatctt tttaacagaa ttacttggaa taatgagata caataatcat
     3061 atctcttttg acattttgga aattttttta attttacaag tacatttaac agatcattta
     3121 taaagcagga gtccatttta acacttaccg actttttttg gtttggaaac atattaccac
     3181 gtcttaatag gatggtgccc atataggtga gcatcccttt agatcatggg aaccagcaga
     3241 ctgcattcct aatcttcatt atgcctgaga cttgtcttac aatgttacct ttaagtgaat
     3301 cacataattg tctttggaac ttggtctccc aacacttatt gtgattgcaa agtgtttacc
     3361 agatatttga tgaggtgcta tgtttgtgaa aaacatatca tgtaattcaa aaacactatt
     3421 gatattgaat accagatacc actatgtagt aagtctttta ggatgatttt aatttagtcg
     3481 tgcgtcattt tctgattctc atcattggga gatcttaaat cttagcaagc attagcaata
     3541 ttaaatgcca aaattccatt gaaactttca agttggagca attgtctgtg tttgaaaaga
     3601 tgaaataaaa ataataatca agggcaaagc tttgagtgcc cagaagggaa agctgtacca
     3661 gttgctaacc tgtcttgttt caggagccac catgtttttt tttcagtgtt aacaacaatc
     3721 atgataatta aattaaaaca ctagtttgtt cacttgtagg actgcagttc tgaattttgg
     3781 gttaaaggtt ttggctgctg taagaatgtg aatttgaatg tattttgaat tgtaagagca
     3841 aaagaacgtt tttgtacaat tttttttcat ttaattggaa tgatcttcag gtttctacaa
     3901 atagggtaat tgtaaattta aagcattagc atttattggt gaataatgta tatatcccca
     3961 ttccaagaaa tataagtgag tgaagttgaa ataaaatctt taaaatttac tatattgcca
     4021 gtggtttcac aacagttctc ttgtatttat ttatcaatta aatcaaataa aaatgattat
     4081 gtcaa
//
Feature
Display: FASTA GenBank Help
Details

Supplemental Content

Change region shown

Customize view

Reference sequence information

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
External link. Please review our privacy policy.