LOCUS       NM_001410910            4342 bp    mRNA    linear   PRI 01-JAN-2023
DEFINITION  Homo sapiens patched domain containing 4 (PTCHD4), transcript
            variant 4, mRNA.
ACCESSION   NM_001410910 XM_017010896
VERSION     NM_001410910.1
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 4342)
  AUTHORS   Chung JH, Larsen AR, Chen E and Bunz F.
  TITLE     A PTCH1 homolog transcriptionally activated by p53 suppresses
            Hedgehog signaling
  JOURNAL   J Biol Chem 289 (47), 33020-33031 (2014)
   PUBMED   25296753
  REMARK    GeneRIF: Data indicate that tumor suppressor p53 can suppress
            canonical Hedgehog signaling via induction of patched domain
            containing 4 (PTCH53), a PTCH1 homolog.
REFERENCE   2  (bases 1 to 4342)
  AUTHORS   Guan W, Steffen BT, Lemaitre RN, Wu JHY, Tanaka T, Manichaikul A,
            Foy M, Rich SS, Wang L, Nettleton JA, Tang W, Gu X, Bandinelli S,
            King IB, McKnight B, Psaty BM, Siscovick D, Djousse L, Chen YI,
            Ferrucci L, Fornage M, Mozafarrian D, Tsai MY and Steffen LM.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   3  (bases 1 to 4342)
  AUTHORS   Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B,
            Yusuf S, Gerstein HC, Engert JC and Anand S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   4  (bases 1 to 4342)
  AUTHORS   Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt
            TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M,
            Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ,
            Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S,
            Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD,
            Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE
            and Hingorani AD.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL353138.10, AL121973.2 and AL161622.12.
            
            On Aug 17, 2022 this sequence version replaced XM_017010896.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.567907.1,
                                           SRR14038196.3238848.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540 [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-149               AL353138.10        57132-57280         c
            150-1123            AL353138.10        15036-16009         c
            1124-1535           AL353138.10        14313-14724         c
            1536-2016           AL121973.2         37539-38019         c
            2017-4342           AL161622.12        104867-107192       c
FEATURES             Location/Qualifiers
     source          1..4342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p12.3"
     gene            1..4342
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="patched domain containing 4"
                     /db_xref="GeneID:442213"
                     /db_xref="HGNC:HGNC:21345"
                     /db_xref="MIM:616908"
     exon            1..149
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /inference="alignment:Splign:2.1.0"
     exon            150..1123
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    1098..1100
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="upstream in-frame stop codon"
     CDS             1119..2045
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="isoform 4 is encoded by transcript variant 4;
                     patched domain-containing protein C6orf138; patched
                     domain-containing protein 4; p53-regulated patched
                     protein"
                     /codon_start=1
                     /product="patched domain-containing protein 4 isoform 4"
                     /protein_id="NP_001397839.1"
                     /db_xref="CCDS:CCDS93930.1"
                     /db_xref="GeneID:442213"
                     /db_xref="HGNC:HGNC:21345"
                     /db_xref="MIM:616908"
                     /translation="

MRRPGAPASWIWWRMLRQVLRRGLQSFCHRLGLCVSRHPVFFLTVPAVLTITFGLSALNRFQPEGDLERLVAPSHSLAKIERSLASSLFPLDQSKSQLYSDLHTPGRYGRVILLSPTGDNILLQAEGILQTHRAVLEMKDGRNSFIGHQLGGVVEVPNSKDQRVKSARAIQITYYLQTYGSATQDLIGEKWENEFCKLIRKLQEEHQELQLYSLASFSLWRDFHKTSILARSKVLVSLVLILTTATLSSSMKDCLRSKPFLGLLGVLTVCISIITAAGIFFITDGKYNSTLLGIPFFAMGISTEFTSS"

     misc_feature    1551..>2021
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="Patched family; Region: Patched; pfam02460"
                     /db_xref="CDD:308203"
     exon            1124..1535
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..2016
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /inference="alignment:Splign:2.1.0"
     exon            2017..4342
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4322..4327
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="hexamer: AATAAA"
     polyA_site      4342
                     /gene="PTCHD4"
                     /gene_synonym="C6orf138; dJ402H5.2; PTCH53"
                     /note="major polyA site"
ORIGIN      

agtgagaagtctggccatcggtagagggatgcagccactaccaaccacagtatggcagagaagtagcagagaagaaataaaagaaatcccctctcactctccaattctgttgttgcctccatgcgccaatccaaaccgaaagccagaaggcaaaactacctggtgtgtctggaagtgtctgtttctggaattccactcacaggggaaaattagcctgaaccagatggcttgaaacagtcctcatgggtgaggggtggaaggagacactggaaaaggggactgaaatcagctttaggaactttctgtcctttaatctcaagaatacagaaagtgaatgtaacatgttatgagaaacctcatattgcctgtagatcttcactttcaatacacacacacgcacacgcacacgcacacaggctactgctattggcaaatgcctcctctccagccatcagaggaaagaagctatccagacggtcccaacgcaccagggatagatggagtctccgcagccctcagctgcagcggactggtctgtggaatcacagcgaggaaggtgttgcgaggaaatcccttgcatgctgtgtggtgtgttaaaaatgcagcatcatcctctctgctccttttcttcgctgaaaagcagaattcgagggcacagggaaactggaggggcgagaaggctgtctcctggagccctggggctgtctccctccatgccccactccttgggctctaattgcccttgctccaatgggccagcagcaccttcaccatttatttcctcttcaattcactccagcggggagggaagagggaacacaaaactctaaaaataactgtcagcatcttaaaaaaagaaaaaagcttatctgcccccccacccccaacgtgctcccgcccttctccctcctctccccccctcagccccccccccctttatggggcacatgtctgcttcttacaacaccgaggcacatggttccagttaggcaccgaaccccaccaagacagagaggaaatccacatctgtgggacgctccacacggaaccacctccagcgagggaggccaggggactgcagcaccgagatgaagggctagaccgagggaacgctgctcatgcgacggccgggagcgcctgcgagctggatctggtggaggatgctgcggcaggtgcttcgcagagggctccagtcgttctgccacaggctgggtttgtgcgtgagccggcacccggtctttttcctcaccgtgcccgcagtcctgacaatcaccttcggcctcagcgcgctcaaccgcttccagcccgagggcgacctggagcgcctggtcgctcccagccacagcctggccaagatcgagcgcagcctggccagcagccttttccccctggaccagtccaaaagccagctctattcggacttacacacccctgggaggtatggcagggtgatcctcctctccccaaccggggacaatattttgctccaggctgaggggatcctgcagacccaccgagccgtgctggaaatgaaggatgggaggaacagttttattggacaccaactgggcggggtagtggaagtgccaaacagcaaagatcagcgggtcaagtcagccagagccattcaaatcacctactacctccagacctatggctctgccacccaagacctcataggggagaagtgggagaatgagttctgtaagcttataaggaagctccaggaggagcatcaagaactccagctctactctttagcatcctttagcctctggagggactttcataagaccagcatcctggccagaagcaaggtcctggtgagcctcgtgctgatcctgaccacagccaccctctccagctccatgaaggactgcttgcgcagtaagcccttcctgggcctcctgggggtgctcacagtatgcatctccatcatcacagcagcagggatcttcttcatcaccgatggaaagtacaactccaccctgctgggaatcccgttcttcgccatgggcatctccactgaatttacctcaagctagaaacaaatttagtttggaagaaagaaaggagagaaggaaggagagaaaaaactggagaggagaaaaatatcacatttggaagattatatgtgaagactcctaggatacaataaaatcatcatcatcgtcatcatcatcatcatcaccaccaataccatcagagcaatctgagagttcattctagtctaagaacccagccctctattttttggaggttaagtatcctccaggtatttctttcctccctgtgcttaacagctgtgtgtctgtaacccatactgtcttttctatctcccacctgactcctctcatgggaaactaaattggtttaaatcatatggaagcattataagtactgtttagtgatgaaaataaattgattccaatcatataggtactttcctaaatactgactgatgaagtttagatgtgctgtaatttataaataaaatgaaggaggttacctggcaatatgtgagagggaggaacaattatcgtgtttgagatttaaaggaaagagtaatgaacacttcccaaataattctatgagataaatattaccctgatactaaaaccagacaaaaacatcacaaggaaggaaaactacaggttaataactttatgaacttgagtgtaaaaattctcaataaaatactagcaagccaaattcaatgaacaaatgaggtttatttctatttatttttatttttttttatttttattttattttattattttttttttttgagacggagtcttgctctgtcgcccaggccggactgcggactgcagtggcgcaatctcggctcactgcaagctccgcctcccaggttcacgccattctcctgcctcagcctcccgagtagctgggactacaggcgcccgccaccgcgcccggctaattttttgtatttttagtagagacggggtttcaccttgttagccaggatggtctcgatctcctgacctcatgatccacccgcctcggcctcccaaagtgctgggattacaggcgtgagccaccatgcccggcccaaatgaggtttattttataaatgcaagagtggtttaacatttgaaaatcattaacataatataccatcaatagaattaaggtcaaaaaccgcatggtcatctcaatagacaaagaaagggcatttgacaaactctaacaacattttatgacaacaaaataactctcaacaaactagtaatagaagggaacttgcttaatctgatacagatatccataaaaacccaaagctaatatcatatttaatggagaaagaatgaacttaaaagttgtacttcaatgaataccatcaagaaagtgaaaaacaaactcacagaatgggagaaaatattttcaaattatctatcttataagagacttgtatacagaatatttaaaggactattacagcttaataataaaaacacaacccaatttcaaagtggacagaagattcgaatagacatttattctaagaagataaacaagtggccaaaagtatatttaaaatgctcaaaataattagttattaaagaaatgcaaatcaaaaccacattgagcacatcatatccattaggatgactaaaatcaagaagtaaggcaataacaagtattgatgaggtaggttaggaactctttacacattgctgatgaaaatgtaaatgatgcagctcttttggaaaatagtctgacagttcctaaaaatgctaaacttagtattagcattttgattcagtaattccactgctaggtatatactcaagagaaatgaaaatatttatccacacaaaactgtacaaatgttcatagcaatattattcataatggcaaaaggtagacacaatccaaatgtccatcaactgatgaatggaaacataaaaagtggtatatgcatacaatggaatattattcagccattaaaaaggaaacaagtactgatacatgctccaatatggatgagcattgaaaatattttgataagtgaaagaagtcatgaaagtgtacataattgcatgattctatatatatgaaatgttcagagtaggcaaatatgtagagacaggaagtagatgagtagttgctgaggattggtgggttaggggatgaagccagggaatggagtcactgctaatgatacagaagttctttcaggttgatgaaatgttctgaaattgattatggcaatcattgcacaactttgtagtatactagaaacttttaaattgtacacttttaatcaatgaattgcttggcattatatcacaataaagctgttaaaaacaaa

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