LOCUS       NM_004197               1211 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens winged helix repair factor 1 (WHR1), transcript
            variant 1, mRNA.
ACCESSION   NM_004197
VERSION     NM_004197.2
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 1211)
  AUTHORS   Ramadhin,A.R., Lee,S.H., Zhou,D., Salmazo,A., Gonzalo-Hansen,C.,
            van Sluis,M., Blom,C.M.A., Janssens,R.C., Raams,A., Dekkers,D.,
            Bezstarosti,K., Slade,D., Vermeulen,W., Pines,A., Demmers,J.A.A.,
            Bernecky,C., Sixma,T.K. and Marteijn,J.A.
  TITLE     STK19 drives transcription-coupled repair by stimulating repair
            complex stability, RNA Pol II ubiquitylation, and TFIIH recruitment
  JOURNAL   Mol Cell 84 (24), 4740-4757 (2024)
   PUBMED   39547223
REFERENCE   2  (bases 1 to 1211)
  AUTHORS   van den Heuvel,D., Rodriguez-Martinez,M., van der Meer,P.J., Nieto
            Moreno,N., Park,J., Kim,H.S., van Schie,J.J.M., Wondergem,A.P.,
            D'Souza,A., Yakoub,G., Herlihy,A.E., Kashyap,K., Boissiere,T.,
            Walker,J., Mitter,R., Apelt,K., de Lint,K., Kirdok,I., Ljungman,M.,
            Wolthuis,R.M.F., Cramer,P., Scharer,O.D., Kokic,G., Svejstrup,J.Q.
            and Luijsterburg,M.S.
  TITLE     STK19 facilitates the clearance of lesion-stalled RNAPII during
            transcription-coupled DNA repair
  JOURNAL   Cell 187 (25), 7107-7125 (2024)
   PUBMED   39547229
REFERENCE   3  (bases 1 to 1211)
  AUTHORS   Mevissen,T.E.T., Kummecke,M., Schmid,E.W., Farnung,L. and
            Walter,J.C.
  TITLE     STK19 positions TFIIH for cell-free transcription-coupled DNA
            repair
  JOURNAL   Cell 187 (25), 7091-7106 (2024)
   PUBMED   39547228
REFERENCE   4  (bases 1 to 1211)
  AUTHORS   Tan,Y., Gao,M., Huang,Y., Zhan,D., Wu,S., An,J., Zhang,X. and Hu,J.
  TITLE     STK19 is a transcription-coupled repair factor that participates in
            UVSSA ubiquitination and TFIIH loading
  JOURNAL   Nucleic Acids Res 52 (21), 12767-12783 (2024)
   PUBMED   39353615
REFERENCE   5  (bases 1 to 1211)
  AUTHORS   Li,J., Ma,X., Wang,X., Hu,X., Fang,S., Jin,G., Liu,K. and Dong,Z.
  TITLE     Mutations found in cancer patients compromise DNA binding of the
            winged helix protein STK19
  JOURNAL   Sci Rep 14 (1), 14098 (2024)
   PUBMED   38890355
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1211)
  AUTHORS   Yang,Z., Shen,L., Dangel,A.W., Wu,L.C. and Yu,C.Y.
  TITLE     Four ubiquitously expressed genes, RD (D6S45)-SKI2W
            (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement
            component genes factor B and C4 in the class III region of the HLA
  JOURNAL   Genomics 53 (3), 338-347 (1998)
   PUBMED   9799600
REFERENCE   7  (bases 1 to 1211)
  AUTHORS   Ulgiati,D., Townend,D.C., Christiansen,F.T., Dawkins,R.L. and
            Abraham,L.J.
  TITLE     Complete sequence of the complement C4 gene from the HLA-A1, B8,
            C4AQ0, C4B1, DR3 haplotype
  JOURNAL   Immunogenetics 43 (4), 250-252 (1996)
   PUBMED   8575831
REFERENCE   8  (bases 1 to 1211)
  AUTHORS   Shen,L., Wu,L.C., Sanlioglu,S., Chen,R., Mendoza,A.R., Dangel,A.W.,
            Carroll,M.C., Zipf,W.B. and Yu,C.Y.
  TITLE     Structure and genetics of the partially duplicated gene RP located
            immediately upstream of the complement C4A and the C4B genes in the
            HLA class III region. Molecular cloning, exon-intron structure,
            composite retroposon, and breakpoint of gene duplication
  JOURNAL   J Biol Chem 269 (11), 8466-8476 (1994)
   PUBMED   8132574
REFERENCE   9  (bases 1 to 1211)
  AUTHORS   Sargent,C.A., Anderson,M.J., Hsieh,S.L., Kendall,E.,
            Gomez-Escobar,N. and Campbell,R.D.
  TITLE     Characterisation of the novel gene G11 lying adjacent to the
            complement C4A gene in the human major histocompatibility complex
  JOURNAL   Hum Mol Genet 3 (3), 481-488 (1994)
   PUBMED   8012361
REFERENCE   10 (bases 1 to 1211)
  AUTHORS   Yu,C.Y.
  TITLE     The complete exon-intron structure of a human complement component
            C4A gene. DNA sequences, polymorphism, and linkage to the
            21-hydroxylase gene
  JOURNAL   J Immunol 146 (3), 1057-1066 (1991)
   PUBMED   1988494
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL645922.12.
            
            On Jul 1, 2020 this sequence version replaced NM_004197.1.
            
            Summary: This gene encodes a serine/threonine kinase which
            localizes predominantly to the nucleus. Its specific function is
            unknown; it is possible that phosphorylation of this protein is
            involved in transcriptional regulation. This gene localizes to the
            major histocompatibility complex (MHC) class III region on
            chromosome 6 and expresses two transcript variants. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) uses an alternate splice site
            in the coding region, compared to variant 2. It encodes isoform 1
            which is shorter compared to isoform 2. Although isoforms 1 and 2
            differ in the kinase domain, it appears that there is no difference
            in kinase activity between isoforms 1 and 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 :: BC143833.1, SRR18074968.2168765.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000685781.1/ ENSP00000509445.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AL645922.12        68629-68777
            150-286             AL645922.12        68887-69023
            287-382             AL645922.12        75169-75264
            383-522             AL645922.12        75680-75819
            523-620             AL645922.12        76717-76814
            621-768             AL645922.12        76920-77067
            769-1211            AL645922.12        77270-77712
FEATURES             Location/Qualifiers
     source          1..1211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..1211
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /note="winged helix repair factor 1"
                     /db_xref="GeneID:8859"
                     /db_xref="HGNC:HGNC:11398"
                     /db_xref="MIM:604977"
     exon            1..149
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..814
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /EC_number="2.7.11.1"
                     /note="isoform 1 is encoded by transcript variant 1; MHC
                     class III HLA-RP1; serine/threonine-protein kinase 19;
                     nuclear serine/threonine protein kinase; inactive
                     serine/threonine-protein kinase 19; serine/threonine
                     kinase 19; Tandem Winged Helix protein previously known as
                     STK19"
                     /codon_start=1
                     /product="inactive serine/threonine-protein kinase 19
                     isoform 1"
                     /protein_id="NP_004188.2"
                     /db_xref="CCDS:CCDS34417.2"
                     /db_xref="GeneID:8859"
                     /db_xref="HGNC:HGNC:11398"
                     /db_xref="MIM:604977"
                     /translation="MSWKRHHLIPETFGVKRRRKRGPVESDPLRGEPGSARAAVSELM
                     QLFPRGLFEDALPPIVLRSQVYSLVPDRTVADRQLKELQEQGEIRIVQLGFDLDAHGI
                     IFTEDYRTRVLKACDGRPYAGAVQKFLASVLPACGDLSFQQDQMTQTFGFRDSEITHL
                     VNAGVLTVRDAGSWWLAVPGAGRFIKYFVKGRQAVLSMVRKAKYRELLLSELLGRRAP
                     VVVRLGLTYHVHDLIGAQLVDCISTTSGTLLRLPET"
     exon            150..286
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     exon            287..382
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     exon            383..522
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     exon            523..620
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     exon            621..768
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     exon            769..1211
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1190..1195
                     /regulatory_class="polyA_signal_sequence"
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /note="hexamer: AATAAA"
     polyA_site      1211
                     /gene="WHR1"
                     /gene_synonym="D6S60; D6S60E; G11; HLA-RP1; RP1; STK19;
                     TWH19"
                     /note="major polyA site"
ORIGIN      
        1 ctcttccctc cattcctacc ccttccccgg taccataaaa tcccgggata tgagctggaa
       61 gaggcatcac ctgatcccgg agacctttgg agttaagagg cggcggaagc gagggcctgt
      121 ggagtcggat cctcttcggg gtgagccagg gtcggcgcgc gcggctgtct cagaactcat
      181 gcagctgttc ccgcgaggcc tgtttgagga cgcgctgccg cccatcgtgc tgaggagcca
      241 ggtgtacagc cttgtgcctg acaggaccgt ggccgaccgg cagctgaagg agcttcaaga
      301 gcagggggag atcagaatcg tccagctggg cttcgacttg gatgcccatg gaattatctt
      361 cactgaggac tacaggacca gagtcctcaa ggcctgtgat ggccgaccgt atgctggggc
      421 agtgcagaaa tttctagctt cagtacttcc agcctgtggg gaccttagtt tccagcagga
      481 ccaaatgaca cagacctttg gcttcaggga ctcagaaatc acgcatctgg tgaatgctgg
      541 agtcctcacc gtccgagatg ctgggagctg gtggctagct gtgcctggag ctgggagatt
      601 catcaagtac tttgttaaag ggcgccaggc tgtccttagc atggtccgga aggcaaagta
      661 ccgggaactg ctcctatcag agctcctggg ccggcgggcg cctgtcgtgg tgcggcttgg
      721 cctcacctac catgtgcacg acctcattgg ggcccagcta gtggactgca tctctaccac
      781 ttcaggaacc ctcctccgcc tgccagagac atgaagattc tgctcatcat tgctcagctc
      841 ctcagagtgg gccgggaggg gactagaaga gctgcatgat ggtggctgag acagggtcac
      901 cttgggaagg cttgggagcc aggatgagtg tcgggctctc gtgtgtgcaa aaggtcagat
      961 gtgactgctg ctgtttgcct ggtttctgac ccagtggtgg ggtttgagca atgcttctct
     1021 gcccttccat ggaaagtgga accagaaatg gtgccaaggc tgtggctgtt ccctttcgtg
     1081 taaaatggtg ctgttattac tctgtcttga aataggaagg tgggatttct ggggaggctg
     1141 gtgaaggagg gcagggttct tttctctacg tgtcatgtta aaattgccaa ataaagtacc
     1201 tctgcctgtg a
//
