LOCUS       NM_001100915            2952 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens potassium channel tetramerization domain containing 19
            (KCTD19), mRNA.
ACCESSION   NM_001100915
VERSION     NM_001100915.3
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 2952)
  AUTHORS   Zhang,Y., Huang,X., Xu,Q., Yu,M., Shu,M., Shan,S., Fan,Y., Li,S.,
            Tao,C., Zhao,Y., Ji,J., Qin,Y., Lu,C., Xia,Y. and Zhang,F.
  TITLE     Homozygous nonsense variants of KCTD19 cause male infertility in
            humans and mice
  JOURNAL   J Genet Genomics 50 (8), 615-619 (2023)
   PUBMED   37257643
  REMARK    GeneRIF: Homozygous nonsense variants of KCTD19 cause male
            infertility in humans and mice.
REFERENCE   2  (bases 1 to 2952)
  AUTHORS   Wang,W., Su,L., Meng,L., He,J., Tan,C., Yi,D., Cheng,D., Zhang,H.,
            Lu,G., Du,J., Lin,G., Zhang,Q., Tu,C. and Tan,Y.Q.
  TITLE     Biallelic variants in KCTD19 associated with male factor
            infertility and oligoasthenoteratozoospermia
  JOURNAL   Hum Reprod 38 (7), 1399-1411 (2023)
   PUBMED   37192818
  REMARK    GeneRIF: Biallelic variants in KCTD19 associated with male factor
            infertility and oligoasthenoteratozoospermia.
REFERENCE   3  (bases 1 to 2952)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2952)
  AUTHORS   Bosch,D.G., Boonstra,F.N., de Leeuw,N., Pfundt,R., Nillesen,W.M.,
            de Ligt,J., Gilissen,C., Jhangiani,S., Lupski,J.R., Cremers,F.P.
            and de Vries,B.B.
  TITLE     Novel genetic causes for cerebral visual impairment
  JOURNAL   Eur J Hum Genet 24 (5), 660-665 (2016)
   PUBMED   26350515
REFERENCE   5  (bases 1 to 2952)
  AUTHORS   Choma,M.K., Lumb,J., Kozik,P. and Robinson,M.S.
  TITLE     A Genome-Wide Screen for Machinery Involved in Downregulation of
            MHC Class I by HIV-1 Nef
  JOURNAL   PLoS One 10 (10), e0140404 (2015)
   PUBMED   26466362
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC117335.1 and BC094790.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001100915.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK302748.1, BC117335.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000304372.6/ ENSP00000305702.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2894              BC117335.1         18-2911
            2895-2952           BC094790.1         4859-4916
FEATURES             Location/Qualifiers
     source          1..2952
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..2952
                     /gene="KCTD19"
                     /note="potassium channel tetramerization domain containing
                     19"
                     /db_xref="GeneID:146212"
                     /db_xref="HGNC:HGNC:24753"
                     /db_xref="MIM:619943"
     exon            1..37
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..2815
                     /gene="KCTD19"
                     /note="potassium channel tetramerisation domain containing
                     19; testicular tissue protein Li 101; potassium channel
                     tetramerization domain-containing protein 19"
                     /codon_start=1
                     /product="BTB/POZ domain-containing protein KCTD19"
                     /protein_id="NP_001094385.1"
                     /db_xref="CCDS:CCDS42179.1"
                     /db_xref="GeneID:146212"
                     /db_xref="HGNC:HGNC:24753"
                     /db_xref="MIM:619943"
                     /translation="MEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEAS
                     ALTSSESQRLFIDRDGSTFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTL
                     DNLKEGKHHLRVRPADLPVAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGL
                     MDTPLLDTEEEVHYCFLPLDLVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFL
                     RSQKILLPDNFSNIDVLEAEVEILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGAR
                     TASLESVKPLYTMALGLLVKYPDSALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGT
                     CRLPLTETISEVYELCAFLDKRDITYEPIKVALKTHLEPRTLAPMDVLNEWTAEITVY
                     SPQQIIKVYVGSHWYATTLQTLLKYPELLSNPQRVYWITYGQTLLIHGDGQMFRHILN
                     FLRLGKLFLPSEFKEWPLFCQEVEEYHIPSLSEALAQCEAYKSWTQEKESENEEAFSI
                     RRLHVVTEGPGSLVEFSRDTKETTAYMPVDFEDCSDRTPWNKAKGNLVRSNQMDEAEQ
                     YTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGHWGSHPESPPKKKCTTINLTQKSET
                     KDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRSSPLEEATLQLPLGSEAASQPST
                     SAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYLPPKRAGTLKDWSKQRTKERE
                     SPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFEDSIIYTTEMDNLRHTTPTA
                     SPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDPKAITAKVVSLANRLWT
                     LHISPKQFVVDLLAITGFKDDRHTQERLYSWVELTLPFARKYGRCMDLLIQRGLSRSV
                     SYSILGKYLQED"
     exon            38..334
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            335..485
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            486..677
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            678..809
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            810..1020
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1181
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1182..1282
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1283..1425
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..1509
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1510..1624
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..2252
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2253..2444
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2445..2599
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2600..2701
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     exon            2702..2952
                     /gene="KCTD19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2934..2939
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KCTD19"
                     /note="hexamer: AATAAA"
     polyA_site      2952
                     /gene="KCTD19"
                     /note="major polyA site"
ORIGIN      
        1 acaagcccgc ccgcccgctg ctggagccgc gaccatggag gagtctggca tggctcatga
       61 atcagcagag gacttgtttc atttcaacgt agggggctgg catttctcag ttcccagaag
      121 caaactctct cagtttccag actccctgct gtggaaagag gcttcagcct tgacctcttc
      181 agaaagccag aggctattta tcgacagaga tggttccaca tttaggcacg tgcactatta
      241 cctctacacc tccaaactct ccttctccag ttgtgcagaa ctgaacttgc tgtatgagca
      301 agcattgggt ttgcagctga tgcctttgct gcagactcta gataacctga aggaagggaa
      361 acaccatcta cgcgtacggc ctgcagacct acctgttgct gagagagcat ctctgaacta
      421 ctggcgtaca tggaagtgta ttagcaaacc ctcagaattt ccaattaaaa gcccagcctt
      481 tacaggccta catgataagg cacctctggg gctcatggac acacccctgt tagacacaga
      541 agaggaggtg cactactgct tcctgcccct agacctggtg gccaaatatc ccagcctagt
      601 gactgaagac aacctgctgt ggctggctga gacggtggcc ctcatcgagt gcgagtgcag
      661 cgagttccgc ttcattgtga attttcttcg ctcacagaag attttactac cggataattt
      721 ctccaacatt gatgtattag aagcagaagt ggaaattctg gaaatccctg cactcactga
      781 agccgtaagg tggtaccgga tgaacatggg tggctgttcc ccgaccacct gttctcccct
      841 gagccccggg aagggggccc gcacagccag cctggagtcc gtgaaaccgc tctacacaat
      901 ggccctgggt ctgctggtca agtacccgga ctctgcgctg ggccagcttc gcatcgagag
      961 cacgctagac ggaagccgac tgtacatcac agggaatggc gtcctctttc agcacgtcaa
     1021 gaactggctg gggacttgcc ggctgcccct gacagagacc atttccgagg tatatgagct
     1081 ctgtgccttc ctagacaaaa gggacatcac ctacgagcca atcaaagttg ctttgaagac
     1141 tcatctggag ccaaggactt tggcacccat ggatgtgctc aatgagtgga cggcagagat
     1201 cactgtgtat tccccacaac agatcatcaa agtgtatgtt ggaagccact ggtacgcaac
     1261 caccctgcag acactgctga agtatccaga actgctgtcc aaccctcaga gagtgtactg
     1321 gatcacatat ggacaaaccc tgctcatcca cggggatggc cagatgttcc gacacattct
     1381 caacttcctg agacttggca aactgttttt accatctgaa tttaaggaat ggcccctctt
     1441 ctgccaggag gtggaggaat accacattcc atccctctca gaagcccttg cacaatgtga
     1501 agcatacaag tcatggactc aggagaaaga atctgaaaat gaagaagctt tttccatcag
     1561 gaggctgcat gtggtgacag aagggccagg gtcactggtg gagttcagta gagacactaa
     1621 agaaaccaca gcctacatgc ctgtggactt cgaagactgc agtgacagga ctccatggaa
     1681 caaggctaag ggaaacctgg tcaggtccaa ccagatggat gaggctgagc agtacactcg
     1741 gcccatccag gtgtccctat gccgaaatgc caagagggct ggcaacccta gcacatactc
     1801 acactgccgt ggcttgtgta ccaatcctgg acactggggg agccaccctg agagcccccc
     1861 aaagaagaaa tgcaccacaa tcaacctcac acagaaatct gaaaccaaag accctcccgc
     1921 cactcccatg caaaaactca tctccctggt gagagaatgg gacatggtca attgcaaaca
     1981 gtgggaattc cagccactga cagccacacg gagcagcccc ttggaggagg ccaccctgca
     2041 gctccccttg ggaagcgagg ctgcttccca gcccagcacc tcagctgcct ggaaagccca
     2101 ttccacagcc tcagagaagg atccaggacc acaggcaggg gctggagctg gagcgaaaga
     2161 caaggggcca gagccaacct tcaagccata cttaccccca aaaagagctg gcaccctgaa
     2221 ggactggagc aagcagagga ccaaggagag agaaagccct gcccctgagc agcctctgcc
     2281 cgaggccagt gaggtggaca gcctaggggt tatcctcaaa gtgactcacc cccccgtggt
     2341 gggcagcgat ggcttctgca tgttctttga ggacagcatc atctatacca cggagatgga
     2401 caacctcagg cacacaacac ccacagccag tccccagccc caagaagtga ctttcctgag
     2461 tttctctctg tcctgggaag agatgtttta tgcacagaaa tgtcactgct tcctggctga
     2521 catcatcatg gattccatca ggcaaaagga ccccaaagcc atcacagcca aggtggtctc
     2581 cctggccaat cggctgtgga ccctgcacat cagccccaag cagtttgtgg tagatttgct
     2641 ggccatcacc ggcttcaagg atgaccggca cacccaggag cgcctgtaca gctgggtgga
     2701 gcttacactg cccttcgcca ggaaatatgg ccgatgcatg gacctgctca tccagagggg
     2761 cctgtctagg tctgtctctt actccatcct gggaaagtac ctacaagagg actagggtgc
     2821 ccagagatgc agcccctcat gccccacccg ccaagtctca ttttaattgg agatagccca
     2881 gaatgcatgt gcccatcaga gggtacatat cagtctattt tttattataa acaaataaaa
     2941 gattaaatca ca
//
