LOCUS       NM_001354919            1170 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens patched 1 (PTCH1), transcript variant 9, mRNA.
ACCESSION   NM_001354919
VERSION     NM_001354919.2
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 1170)
  AUTHORS   Patel,H.V., Joshi,J.S. and Shah,F.D.
  TITLE     Implicating clinical utility of altered expression of PTCH1 & SMO
            in oral squamous cell carcinoma
  JOURNAL   J Mol Histol 55 (4), 379-389 (2024)
   PUBMED   38954185
  REMARK    GeneRIF: Implicating clinical utility of altered expression of
            PTCH1 & SMO in oral squamous cell carcinoma.
REFERENCE   2  (bases 1 to 1170)
  AUTHORS   Yu,P., Yang,J. and Zhang,Y.
  TITLE     Identification and characterization of two novel PTCH1 splice
            variants
  JOURNAL   Biochem Biophys Res Commun 487 (1), 68-75 (2017)
   PUBMED   28390897
  REMARK    GeneRIF: Thus, our study clearly demonstrated the unique
            involvement of the two novel PTCH1 splice variants in HH signal
            transduction.
REFERENCE   3  (bases 1 to 1170)
  AUTHORS   Wu,F., Zhang,Y., Sun,B., McMahon,A.P. and Wang,Y.
  TITLE     Hedgehog Signaling: From Basic Biology to Cancer Therapy
  JOURNAL   Cell Chem Biol 24 (3), 252-280 (2017)
   PUBMED   28286127
  REMARK    Review article
REFERENCE   4  (bases 1 to 1170)
  AUTHORS   Shimokawa,T., Svard,J., Heby-Henricson,K., Teglund,S., Toftgard,R.
            and Zaphiropoulos,P.G.
  TITLE     Distinct roles of first exon variants of the tumor-suppressor
            Patched1 in Hedgehog signaling
  JOURNAL   Oncogene 26 (34), 4889-4896 (2007)
   PUBMED   17310997
REFERENCE   5  (bases 1 to 1170)
  AUTHORS   Nagao,K., Toyoda,M., Takeuchi-Inoue,K., Fujii,K., Yamada,M. and
            Miyashita,T.
  TITLE     Identification and characterization of multiple isoforms of a
            murine and human tumor suppressor, patched, having distinct first
            exons
  JOURNAL   Genomics 85 (4), 462-471 (2005)
   PUBMED   15780749
  REMARK    GeneRIF: Seven isoforms of human PTCH mRNA were identified.
REFERENCE   6  (bases 1 to 1170)
  AUTHORS   Johnson,R.L., Rothman,A.L., Xie,J., Goodrich,L.V., Bare,J.W.,
            Bonifas,J.M., Quinn,A.G., Myers,R.M., Cox,D.R., Epstein,E.H. Jr.
            and Scott,M.P.
  TITLE     Human homolog of patched, a candidate gene for the basal cell nevus
            syndrome
  JOURNAL   Science 272 (5268), 1668-1671 (1996)
   PUBMED   8658145
REFERENCE   7  (bases 1 to 1170)
  AUTHORS   Hahn,H., Christiansen,J., Wicking,C., Zaphiropoulos,P.G.,
            Chidambaram,A., Gerrard,B., Vorechovsky,I., Bale,A.E., Toftgard,R.,
            Dean,M. and Wainwright,B.
  TITLE     A mammalian patched homolog is expressed in target tissues of sonic
            hedgehog and maps to a region associated with developmental
            abnormalities
  JOURNAL   J Biol Chem 271 (21), 12125-12128 (1996)
   PUBMED   8647801
REFERENCE   8  (bases 1 to 1170)
  AUTHORS   Muller,E. II and Hudgins,L.
  TITLE     9q22.3 Microdeletion - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21850767
REFERENCE   9  (bases 1 to 1170)
  AUTHORS   Tekendo-Ngongang,C., Muenke,M. and Kruszka,P.
  TITLE     Holoprosencephaly Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301702
REFERENCE   10 (bases 1 to 1170)
  AUTHORS   Evans,D.G.
  TITLE     Nevoid Basal Cell Carcinoma Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301330
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC043542.1 and AL161729.27.
            
            On May 20, 2020 this sequence version replaced NM_001354919.1.
            
            Summary: This gene encodes a member of the patched family of
            proteins and a component of the hedgehog signaling pathway.
            Hedgehog signaling is important in embryonic development and
            tumorigenesis. The encoded protein is the receptor for the secreted
            hedgehog ligands, which include sonic hedgehog, indian hedgehog and
            desert hedgehog. Following binding by one of the hedgehog ligands,
            the encoded protein is trafficked away from the primary cilium,
            relieving inhibition of the G-protein-coupled receptor smoothened,
            which results in activation of downstream signaling. Mutations of
            this gene have been associated with basal cell nevus syndrome and
            holoprosencephaly. [provided by RefSeq, Aug 2017].
            
            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 :: BC043542.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1168              BC043542.1         87-1254
            1169-1170           AL161729.27        79024-79025
FEATURES             Location/Qualifiers
     source          1..1170
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.32"
     gene            1..1170
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /note="patched 1"
                     /db_xref="GeneID:5727"
                     /db_xref="HGNC:HGNC:9585"
                     /db_xref="MIM:601309"
     exon            1..503
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /inference="alignment:Splign:2.1.0"
     CDS             501..1052
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /note="isoform 9 is encoded by transcript variant 9;
                     protein patched homolog 1"
                     /codon_start=1
                     /product="protein patched homolog 1 isoform 9"
                     /protein_id="NP_001341848.1"
                     /db_xref="CCDS:CCDS87661.1"
                     /db_xref="GeneID:5727"
                     /db_xref="HGNC:HGNC:9585"
                     /db_xref="MIM:601309"
                     /translation="MGKATGRKAPLWLRAKFQRLLFKLGCYIQKNCGKFLVVGLLIFG
                     AFAVGLKAANLETNVEELWVEVGGRVSRELNYTRQKIGEEAMFNPQLMIQTPKEEGAN
                     VLTTEALLQHLDSALQASRVHVYMYNRQWKLEHLCYKSGELITETGYMDQIIEYLYPC
                     LIITPLDCFWEGAKLQSGTAYLL"
     exon            504..696
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /inference="alignment:Splign:2.1.0"
     exon            697..886
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /inference="alignment:Splign:2.1.0"
     exon            887..956
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1170
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1150..1155
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /note="hexamer: AATAAA"
     polyA_site      1170
                     /gene="PTCH1"
                     /gene_synonym="BCNS; BCNS1; NBCCS; PTC; PTC1; PTCH;
                     SLC65B1"
                     /note="major polyA site"
ORIGIN      
        1 ctgtttaccc aggagggctg tgctgatagc acgttcctcg agtttacttt gctttccttg
       61 agtttattgt aaaggggtaa agttttcgga tccgtcacgt gaccctgaca ggtcctgcct
      121 atggcgcggc agaccaccca cgccgagggc catggaactg cttaatagaa acaggcttgt
      181 aattgtgagt ccgcgctgca ctccgccgaa agcctccggc ggcccagcgc gccggggttt
      241 ttacactttc cgttcctttt gtaaagacgg aggaggagga gaagaagaag aagaaaacgg
      301 aggagaagaa aaagacgaca ggggagacaa agagacccgc agcgacaagg caagggggag
      361 acgagggaag actgggagaa gacggaggag cggaggacga ggaaaggggg gccagggaaa
      421 aaaaaggaat tgatgtgaaa tccaagccca gcgtccgcgc catcggcacc cgcgctccga
      481 gcaggggttg acggccggct atggggaagg ctactggccg gaaagcgccg ctgtggctga
      541 gagcgaagtt tcagagactc ttatttaaac tgggttgtta cattcaaaaa aactgcggca
      601 agttcttggt tgtgggcctc ctcatatttg gggccttcgc ggtgggatta aaagcagcga
      661 acctcgagac caacgtggag gagctgtggg tggaagttgg aggacgagta agtcgtgaat
      721 taaattatac tcgccagaag attggagaag aggctatgtt taatcctcaa ctcatgatac
      781 agacccctaa agaagaaggt gctaatgtcc tgaccacaga agcgctccta caacacctgg
      841 actcggcact ccaggccagc cgtgtccatg tatacatgta caacaggcag tggaaattgg
      901 aacatttgtg ttacaaatca ggagagctta tcacagaaac aggttacatg gatcagataa
      961 tagaatatct ttacccttgt ttgattatta cacctttgga ctgcttctgg gaaggggcga
     1021 aattacagtc tgggacagca tacctcctgt aagtgtgtga tcatgctttc tgatgtctgt
     1081 gacttctcta ggactcagtg tttctaatgt tgcttatcat tgtttgttcc atttcagttt
     1141 tgaacaagaa ataaaaacat tgaaattcca
//
