LOCUS       NM_006742               3497 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens protein serine kinase H1 (PSKH1), mRNA.
ACCESSION   NM_006742
VERSION     NM_006742.3
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 3497)
  AUTHORS   Maddirevula,S., Shagrani,M., Ji,A.R., Horne,C.R., Young,S.N.,
            Mather,L.J., Alqahtani,M., McKerlie,C., Wood,G., Potter,P.K.,
            Abdulwahab,F., AlSheddi,T., van der Woerd,W.L., van Gassen,K.L.I.,
            AlBogami,D., Kumar,K., Muhammad Akhtar,A.S., Binomar,H.,
            Almanea,H., Faqeih,E., Fuchs,S.A., Scott,J.W., Murphy,J.M. and
            Alkuraya,F.S.
  TITLE     Large-scale genomic investigation of pediatric cholestasis reveals
            a novel hepatorenal ciliopathy caused by PSKH1 mutations
  JOURNAL   Genet Med 26 (11), 101231 (2024)
   PUBMED   39132680
REFERENCE   2  (bases 1 to 3497)
  AUTHORS   Shrestha,S., Byrne,D.P., Harris,J.A., Kannan,N. and Eyers,P.A.
  TITLE     Cataloguing the dead: breathing new life into pseudokinase research
  JOURNAL   FEBS J 287 (19), 4150-4169 (2020)
   PUBMED   32053275
  REMARK    GeneRIF: Cataloguing the dead: breathing new life into pseudokinase
            research.
            Review article
REFERENCE   3  (bases 1 to 3497)
  AUTHORS   Buljan,M., Ciuffa,R., van Drogen,A., Vichalkovski,A., Mehnert,M.,
            Rosenberger,G., Lee,S., Varjosalo,M., Pernas,L.E., Spegg,V.,
            Snijder,B., Aebersold,R. and Gstaiger,M.
  TITLE     Kinase Interaction Network Expands Functional and Disease Roles of
            Human Kinases
  JOURNAL   Mol Cell 79 (3), 504-520 (2020)
   PUBMED   32707033
REFERENCE   4  (bases 1 to 3497)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   5  (bases 1 to 3497)
  AUTHORS   Willer,C.J., Schmidt,E.M., Sengupta,S., Peloso,G.M., Gustafsson,S.,
            Kanoni,S., Ganna,A., Chen,J., Buchkovich,M.L., Mora,S.,
            Beckmann,J.S., Bragg-Gresham,J.L., Chang,H.Y., Demirkan,A., Den
            Hertog,H.M., Do,R., Donnelly,L.A., Ehret,G.B., Esko,T.,
            Feitosa,M.F., Ferreira,T., Fischer,K., Fontanillas,P., Fraser,R.M.,
            Freitag,D.F., Gurdasani,D., Heikkila,K., Hypponen,E., Isaacs,A.,
            Jackson,A.U., Johansson,A., Johnson,T., Kaakinen,M., Kettunen,J.,
            Kleber,M.E., Li,X., Luan,J., Lyytikainen,L.P., Magnusson,P.K.E.,
            Mangino,M., Mihailov,E., Montasser,M.E., Muller-Nurasyid,M.,
            Nolte,I.M., O'Connell,J.R., Palmer,C.D., Perola,M., Petersen,A.K.,
            Sanna,S., Saxena,R., Service,S.K., Shah,S., Shungin,D., Sidore,C.,
            Song,C., Strawbridge,R.J., Surakka,I., Tanaka,T., Teslovich,T.M.,
            Thorleifsson,G., Van den Herik,E.G., Voight,B.F., Volcik,K.A.,
            Waite,L.L., Wong,A., Wu,Y., Zhang,W., Absher,D., Asiki,G.,
            Barroso,I., Been,L.F., Bolton,J.L., Bonnycastle,L.L., Brambilla,P.,
            Burnett,M.S., Cesana,G., Dimitriou,M., Doney,A.S.F., Doring,A.,
            Elliott,P., Epstein,S.E., Ingi Eyjolfsson,G., Gigante,B.,
            Goodarzi,M.O., Grallert,H., Gravito,M.L., Groves,C.J., Hallmans,G.,
            Hartikainen,A.L., Hayward,C., Hernandez,D., Hicks,A.A., Holm,H.,
            Hung,Y.J., Illig,T., Jones,M.R., Kaleebu,P., Kastelein,J.J.P.,
            Khaw,K.T., Kim,E., Klopp,N., Komulainen,P., Kumari,M.,
            Langenberg,C., Lehtimaki,T., Lin,S.Y., Lindstrom,J., Loos,R.J.F.,
            Mach,F., McArdle,W.L., Meisinger,C., Mitchell,B.D., Muller,G.,
            Nagaraja,R., Narisu,N., Nieminen,T.V.M., Nsubuga,R.N., Olafsson,I.,
            Ong,K.K., Palotie,A., Papamarkou,T., Pomilla,C., Pouta,A.,
            Rader,D.J., Reilly,M.P., Ridker,P.M., Rivadeneira,F., Rudan,I.,
            Ruokonen,A., Samani,N., Scharnagl,H., Seeley,J., Silander,K.,
            Stancakova,A., Stirrups,K., Swift,A.J., Tiret,L.,
            Uitterlinden,A.G., van Pelt,L.J., Vedantam,S., Wainwright,N.,
            Wijmenga,C., Wild,S.H., Willemsen,G., Wilsgaard,T., Wilson,J.F.,
            Young,E.H., Zhao,J.H., Adair,L.S., Arveiler,D., Assimes,T.L.,
            Bandinelli,S., Bennett,F., Bochud,M., Boehm,B.O., Boomsma,D.I.,
            Borecki,I.B., Bornstein,S.R., Bovet,P., Burnier,M., Campbell,H.,
            Chakravarti,A., Chambers,J.C., Chen,Y.I., Collins,F.S.,
            Cooper,R.S., Danesh,J., Dedoussis,G., de Faire,U., Feranil,A.B.,
            Ferrieres,J., Ferrucci,L., Freimer,N.B., Gieger,C., Groop,L.C.,
            Gudnason,V., Gyllensten,U., Hamsten,A., Harris,T.B., Hingorani,A.,
            Hirschhorn,J.N., Hofman,A., Hovingh,G.K., Hsiung,C.A.,
            Humphries,S.E., Hunt,S.C., Hveem,K., Iribarren,C., Jarvelin,M.R.,
            Jula,A., Kahonen,M., Kaprio,J., Kesaniemi,A., Kivimaki,M.,
            Kooner,J.S., Koudstaal,P.J., Krauss,R.M., Kuh,D., Kuusisto,J.,
            Kyvik,K.O., Laakso,M., Lakka,T.A., Lind,L., Lindgren,C.M.,
            Martin,N.G., Marz,W., McCarthy,M.I., McKenzie,C.A., Meneton,P.,
            Metspalu,A., Moilanen,L., Morris,A.D., Munroe,P.B., Njolstad,I.,
            Pedersen,N.L., Power,C., Pramstaller,P.P., Price,J.F., Psaty,B.M.,
            Quertermous,T., Rauramaa,R., Saleheen,D., Salomaa,V.,
            Sanghera,D.K., Saramies,J., Schwarz,P.E.H., Sheu,W.H.,
            Shuldiner,A.R., Siegbahn,A., Spector,T.D., Stefansson,K.,
            Strachan,D.P., Tayo,B.O., Tremoli,E., Tuomilehto,J., Uusitupa,M.,
            van Duijn,C.M., Vollenweider,P., Wallentin,L., Wareham,N.J.,
            Whitfield,J.B., Wolffenbuttel,B.H.R., Ordovas,J.M., Boerwinkle,E.,
            Palmer,C.N.A., Thorsteinsdottir,U., Chasman,D.I., Rotter,J.I.,
            Franks,P.W., Ripatti,S., Cupples,L.A., Sandhu,M.S., Rich,S.S.,
            Boehnke,M., Deloukas,P., Kathiresan,S., Mohlke,K.L., Ingelsson,E.
            and Abecasis,G.R.
  CONSRTM   Global Lipids Genetics Consortium
  TITLE     Discovery and refinement of loci associated with lipid levels
  JOURNAL   Nat Genet 45 (11), 1274-1283 (2013)
   PUBMED   24097068
REFERENCE   6  (bases 1 to 3497)
  AUTHORS   Brede,G., Solheim,J., Troen,G. and Prydz,H.
  TITLE     Characterization of PSKH1, a novel human protein serine kinase with
            centrosomal, golgi, and nuclear localization
  JOURNAL   Genomics 70 (1), 82-92 (2000)
   PUBMED   11087665
REFERENCE   7  (bases 1 to 3497)
  AUTHORS   Amarzguioui,M., Brede,G., Babaie,E., Grotli,M., Sproat,B. and
            Prydz,H.
  TITLE     Secondary structure prediction and in vitro accessibility of mRNA
            as tools in the selection of target sites for ribozymes
  JOURNAL   Nucleic Acids Res 28 (21), 4113-4124 (2000)
   PUBMED   11058107
REFERENCE   8  (bases 1 to 3497)
  AUTHORS   Petersen,B.O., Lukas,J., Sorensen,C.S., Bartek,J. and Helin,K.
  TITLE     Phosphorylation of mammalian CDC6 by cyclin A/CDK2 regulates its
            subcellular localization
  JOURNAL   EMBO J 18 (2), 396-410 (1999)
   PUBMED   9889196
REFERENCE   9  (bases 1 to 3497)
  AUTHORS   Larsen,F., Solheim,J., Kristensen,T., Kolsto,A.B. and Prydz,H.
  TITLE     A tight cluster of five unrelated human genes on chromosome 16q22.1
  JOURNAL   Hum Mol Genet 2 (10), 1589-1595 (1993)
   PUBMED   8268911
REFERENCE   10 (bases 1 to 3497)
  AUTHORS   Hanks,S.K.
  TITLE     Homology probing: identification of cDNA clones encoding members of
            the protein-serine kinase family
  JOURNAL   Proc Natl Acad Sci U S A 84 (2), 388-392 (1987)
   PUBMED   2948189
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC040162.5, DA429976.1 and BC062616.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006742.2.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC062616.1, SRR1660807.241585.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000291041.6/ ENSP00000291041.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AC040162.5         122606-122623       c
            19-47               DA429976.1         1-29
            48-3497             BC062616.1         1-3450
FEATURES             Location/Qualifiers
     source          1..3497
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q22.1"
     gene            1..3497
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /note="protein serine kinase H1"
                     /db_xref="GeneID:5681"
                     /db_xref="HGNC:HGNC:9529"
                     /db_xref="MIM:177015"
     exon            1..118
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /inference="alignment:Splign:2.1.0"
     exon            119..1145
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /inference="alignment:Splign:2.1.0"
     CDS             189..1463
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /EC_number="2.7.11.1"
                     /note="PSK-H1"
                     /codon_start=1
                     /product="serine/threonine-protein kinase H1"
                     /protein_id="NP_006733.1"
                     /db_xref="CCDS:CCDS10851.1"
                     /db_xref="GeneID:5681"
                     /db_xref="HGNC:HGNC:9529"
                     /db_xref="MIM:177015"
                     /translation="MGCGTSKVLPEPPKDVQLDLVKKVEPFSGTKSDVYKHFITEVDS
                     VGPVKAGFPAASQYAHPCPGPPTAGHTEPPSEPPRRARVAKYRAKFDPRVTAKYDIKA
                     LIGRGSFSRVVRVEHRATRQPYAIKMIETKYREGREVCESELRVLRRVRHANIIQLVE
                     VFETQERVYMVMELATGGELFDRIIAKGSFTERDATRVLQMVLDGVRYLHALGITHRD
                     LKPENLLYYHPGTDSKIIITDFGLASARKKGDDCLMKTTCGTPEYIAPEVLVRKPYTN
                     SVDMWALGVIAYILLSGTMPFEDDNRTRLYRQILRGKYSYSGEPWPSVSNLAKDFIDR
                     LLTVDPGARMTALQALRHPWVVSMAASSSMKNLHRSISQNLLKRASSRCQSTKSAQST
                     RSSRSTRSNKSRRVRERELRELNLRYQQQYNG"
     exon            1146..3497
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3454..3459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /note="hexamer: AGTAAA"
     polyA_site      3497
                     /gene="PSKH1"
                     /gene_synonym="PFIC13"
                     /note="major polyA site"
ORIGIN      
        1 gccacgacgc taacgcccga gaatggcggc ggcggcggcg gcggcggcgg ccgctgccat
       61 tgcccggaga tggccggcag agccgccgag acgccgaaga gcccgccgcc cgcgcgaggt
      121 gtagacgggg cactgccttc agagcaggtc ctgccagcct cgctggagag gatgccctcg
      181 tgtccgtgat gggctgtggg acaagcaagg tccttcccga gccacccaag gatgtccagc
      241 tggatctggt caagaaggtg gagcccttca gtggcactaa gagtgacgtg tacaagcact
      301 tcatcacaga ggtggacagt gttggccctg tcaaagccgg gttcccagca gcaagtcagt
      361 atgcacaccc ctgccccggt cccccgactg ctggccacac ggagcctccc tcagaaccac
      421 cacgcagggc cagggtagct aagtacaggg ccaagtttga cccacgtgtt acagctaagt
      481 atgacatcaa ggccctaatt ggccgaggca gcttcagccg agtggtacgt gtagagcacc
      541 gggcaacccg gcagccgtat gccatcaaga tgattgagac caagtaccgg gaggggcggg
      601 aggtgtgtga gtcggagctg cgtgtgctgc gtcgggtgcg tcatgccaac atcatccagc
      661 tggtggaggt gttcgagaca caggagcggg tgtacatggt gatggagctg gccactggtg
      721 gagagctctt tgaccgcatc attgccaagg gctccttcac cgagcgtgac gccacgcggg
      781 tgctgcagat ggtgctggat ggcgtccggt atctgcatgc actgggcatc acacaccgag
      841 acctcaaacc tgagaatctg ctctactacc atccgggcac tgactccaag atcatcatca
      901 ccgacttcgg cctggccagt gctcgcaaga agggtgatga ctgcttgatg aagaccacct
      961 gtggcacgcc tgagtacatt gccccagaag tcctggtccg caagccatac accaactcag
     1021 tggacatgtg ggcgctgggc gtcattgcct acatcctact cagtggcacc atgccgtttg
     1081 aggatgacaa ccgtacccgg ctgtaccggc agatcctcag gggcaagtac agttactctg
     1141 gggagccctg gcctagtgtg tccaacctgg ccaaggactt cattgaccgc ctgctgacag
     1201 tggaccctgg agcccgtatg actgcactgc aggccctgag gcacccgtgg gtggtgagca
     1261 tggctgcctc ttcatccatg aagaacctgc accgctccat atcccagaac ctccttaaac
     1321 gtgcctcctc gcgctgccag agcaccaaat ctgcccagtc cacgcgttcc agccgctcca
     1381 cacgctccaa taagtcacgc cgtgtgcggg aacgggagct gcgggagctc aacctgcgct
     1441 accagcagca atacaatggc tgagccgcct ggctgtgcac acatgcagca cgacccagcc
     1501 tggccacaca ctgtggtgcc atctgggtcc gatgccctct ctggagatag gcctatgtgg
     1561 cccacagtag gtgaagaatg tctggctcca gccctttctc tgtgccttca gcagcccctg
     1621 tcctcaccat gggcctgggc caggtgtgac agagtagagg tagcacaggg ggctgtgact
     1681 ccccctgaac tgggagcctg gcctggcact gatacccctc ttggtgggca gctgctctgg
     1741 tggagttggg aagggatagg acctggcctt cactgtctcc cttgcccttt gacttttccc
     1801 caatcaaagg gaactgcagt gctgggtgga gtgtcctgtg gcctcaggac cctttgggac
     1861 agttacttct gggaccccct ttcctccaca gagcccttct ccctggtttc acacattccc
     1921 atgcatcctg atccttaaga ttatgctcca gtgggagacc ctggtaggca caaagcttgt
     1981 gccttgactg gacccgtagc ccctggctag gtcgaaacag ccctccacct cccagccaag
     2041 atctgtcttc cttcatggtg cctccaggga gccttcctgg tcccaggacc tctggtggag
     2101 ggccatggcg tggaccttca cccttctgga ctgtgtggcc atgctggtca tcggcttgcc
     2161 caggctccag cctctccaga ttctgagggg tctcagccca ccgcccttgg tgccttcttt
     2221 gtagagccca ccgctacctc cctctccccg ttggatgtcc attccattcc ccaggtgcct
     2281 ccttcccaac tgggggtggt taaagggagc cccactgctg ctacctgggg aatggggcac
     2341 ctgggggcca aggcagaggg aagggggtcc tcccgattag ggtcgagtgt cagcctgggt
     2401 tctatccttt ggtgcagccc cattgccttt tcccttcagg ctctgttgct ccctcctctg
     2461 cagctgcacg aaggcgccat ctggtgtctg catgggtgtt ggcagcctgg gagtgatcac
     2521 tgcacgccca tcgtgcacac ctgcccatcg tgcacaccca cccatggtgc acacctgtag
     2581 tcctccatga ggacatggga aggtaggagt tgccgccctg ggggagggtc ccgggctgct
     2641 cacctctccc cttctgctga gcttctgcgc acccctccct ggaacttagc catactgtgt
     2701 gacctgcctc tgaaaccagg gtgccagggg cactgccttc tcacagctgg ccttgccccg
     2761 tccaccctgt gctgcttccc ttcacagcat taaccttcca gtctgggtcc cactgagcct
     2821 caagctggaa ggagcccctg cgggaggtgg gtggggttgg gtggctgctt tcccagaggc
     2881 ctgagccaga accatcccca tttcttttgt ggtatctccc cctaccacaa accaggctgg
     2941 aacccaagcc ccttcctcca cagctgcctt cagtgggtag aatggggcca gggcccagct
     3001 ttggccttag cttgacggca gggcccctgc cattgcagga gggtttggtt cccactcagc
     3061 ttctgccggt cggcagcctg ggccaggccc ttttcctgca tgtgccacct ccagtgggaa
     3121 acaaaactaa agagaccact ctgtgccaag tcgactatgc cttagacaca tcctcctacc
     3181 gtccccaatg ccccctgggc aggaggcagt ggagaaccaa gccccatggc ctcagaattt
     3241 ccccccagtt ccccaagtgt ctctggggac ctgaagccct ggggcttacg ttctctcttg
     3301 cccagggtgg gcctggtcct gagggcagga cagggggttt ggagatgtgg gcctttgata
     3361 gacccacttg ggccttcatg ccatggcctg tggatggaga atgtgcagtt atttattatg
     3421 cgtattcagt ttgtaaacgt atcctctgta ttcagtaaac aggctgcctc tccagggagg
     3481 gctgccattc attccaa
//
