LOCUS       NM_001034842            3574 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens patched domain containing 3 (gene/pseudogene)
            (PTCHD3), transcript variant 1, mRNA.
ACCESSION   NM_001034842 XM_370541
VERSION     NM_001034842.5
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 3574)
  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   2  (bases 1 to 3574)
  AUTHORS   Manning,A.K., Hivert,M.F., Scott,R.A., Grimsby,J.L.,
            Bouatia-Naji,N., Chen,H., Rybin,D., Liu,C.T., Bielak,L.F.,
            Prokopenko,I., Amin,N., Barnes,D., Cadby,G., Hottenga,J.J.,
            Ingelsson,E., Jackson,A.U., Johnson,T., Kanoni,S., Ladenvall,C.,
            Lagou,V., Lahti,J., Lecoeur,C., Liu,Y., Martinez-Larrad,M.T.,
            Montasser,M.E., Navarro,P., Perry,J.R., Rasmussen-Torvik,L.J.,
            Salo,P., Sattar,N., Shungin,D., Strawbridge,R.J., Tanaka,T., van
            Duijn,C.M., An,P., de Andrade,M., Andrews,J.S., Aspelund,T.,
            Atalay,M., Aulchenko,Y., Balkau,B., Bandinelli,S., Beckmann,J.S.,
            Beilby,J.P., Bellis,C., Bergman,R.N., Blangero,J., Boban,M.,
            Boehnke,M., Boerwinkle,E., Bonnycastle,L.L., Boomsma,D.I.,
            Borecki,I.B., Bottcher,Y., Bouchard,C., Brunner,E., Budimir,D.,
            Campbell,H., Carlson,O., Chines,P.S., Clarke,R., Collins,F.S.,
            Corbaton-Anchuelo,A., Couper,D., de Faire,U., Dedoussis,G.V.,
            Deloukas,P., Dimitriou,M., Egan,J.M., Eiriksdottir,G., Erdos,M.R.,
            Eriksson,J.G., Eury,E., Ferrucci,L., Ford,I., Forouhi,N.G.,
            Fox,C.S., Franzosi,M.G., Franks,P.W., Frayling,T.M., Froguel,P.,
            Galan,P., de Geus,E., Gigante,B., Glazer,N.L., Goel,A., Groop,L.,
            Gudnason,V., Hallmans,G., Hamsten,A., Hansson,O., Harris,T.B.,
            Hayward,C., Heath,S., Hercberg,S., Hicks,A.A., Hingorani,A.,
            Hofman,A., Hui,J., Hung,J., Jarvelin,M.R., Jhun,M.A., Johnson,P.C.,
            Jukema,J.W., Jula,A., Kao,W.H., Kaprio,J., Kardia,S.L.,
            Keinanen-Kiukaanniemi,S., Kivimaki,M., Kolcic,I., Kovacs,P.,
            Kumari,M., Kuusisto,J., Kyvik,K.O., Laakso,M., Lakka,T.,
            Lannfelt,L., Lathrop,G.M., Launer,L.J., Leander,K., Li,G., Lind,L.,
            Lindstrom,J., Lobbens,S., Loos,R.J., Luan,J., Lyssenko,V., Magi,R.,
            Magnusson,P.K., Marmot,M., Meneton,P., Mohlke,K.L., Mooser,V.,
            Morken,M.A., Miljkovic,I., Narisu,N., O'Connell,J., Ong,K.K.,
            Oostra,B.A., Palmer,L.J., Palotie,A., Pankow,J.S., Peden,J.F.,
            Pedersen,N.L., Pehlic,M., Peltonen,L., Penninx,B., Pericic,M.,
            Perola,M., Perusse,L., Peyser,P.A., Polasek,O., Pramstaller,P.P.,
            Province,M.A., Raikkonen,K., Rauramaa,R., Rehnberg,E., Rice,K.,
            Rotter,J.I., Rudan,I., Ruokonen,A., Saaristo,T., Sabater-Lleal,M.,
            Salomaa,V., Savage,D.B., Saxena,R., Schwarz,P., Seedorf,U.,
            Sennblad,B., Serrano-Rios,M., Shuldiner,A.R., Sijbrands,E.J.,
            Siscovick,D.S., Smit,J.H., Small,K.S., Smith,N.L., Smith,A.V.,
            Stancakova,A., Stirrups,K., Stumvoll,M., Sun,Y.V., Swift,A.J.,
            Tonjes,A., Tuomilehto,J., Trompet,S., Uitterlinden,A.G.,
            Uusitupa,M., Vikstrom,M., Vitart,V., Vohl,M.C., Voight,B.F.,
            Vollenweider,P., Waeber,G., Waterworth,D.M., Watkins,H.,
            Wheeler,E., Widen,E., Wild,S.H., Willems,S.M., Willemsen,G.,
            Wilson,J.F., Witteman,J.C., Wright,A.F., Yaghootkar,H.,
            Zelenika,D., Zemunik,T., Zgaga,L., Wareham,N.J., McCarthy,M.I.,
            Barroso,I., Watanabe,R.M., Florez,J.C., Dupuis,J., Meigs,J.B. and
            Langenberg,C.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Multiple Tissue Human Expression Resource (MUTHER)
            Consortium
  TITLE     A genome-wide approach accounting for body mass index identifies
            genetic variants influencing fasting glycemic traits and insulin
            resistance
  JOURNAL   Nat Genet 44 (6), 659-669 (2012)
   PUBMED   22581228
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3574)
  AUTHORS   Ghahramani Seno,M.M., Kwan,B.Y., Lee-Ng,K.K., Moessner,R.,
            Lionel,A.C., Marshall,C.R. and Scherer,S.W.
  TITLE     Human PTCHD3 nulls: rare copy number and sequence variants suggest
            a non-essential gene
  JOURNAL   BMC Med Genet 12, 45 (2011)
   PUBMED   21439084
  REMARK    GeneRIF: PTCHD3 nulls: rare copy number and sequence variants
            suggest a non-essential gene.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3574)
  AUTHORS   Fan,J., Akabane,H., Zheng,X., Zhou,X., Zhang,L., Liu,Q.,
            Zhang,Y.L., Yang,J. and Zhu,G.Z.
  TITLE     Male germ cell-specific expression of a novel Patched-domain
            containing gene Ptchd3
  JOURNAL   Biochem Biophys Res Commun 363 (3), 757-761 (2007)
   PUBMED   17904097
  REMARK    GeneRIF: Results indicate that Ptchd3 is a novel male germ
            cell-specific gene and may be involved in the Hh signaling to
            regulate sperm development and/or sperm function.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355493.14.
            
            On Aug 3, 2021 this sequence version replaced NM_001034842.4.
            
            Transcript Variant: This variant (1) represents the allele encoded
            by the reference genome (GRCh38) and encodes isoform 1.
            
            Sequence Note: This RefSeq record was created from the genomic
            sequence data to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK126025.1, BC107139.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1186              AL355493.14        129508-130693       c
            1187-1308           AL355493.14        128154-128275       c
            1309-1454           AL355493.14        119558-119703       c
            1455-3574           AL355493.14        113467-115586       c
FEATURES             Location/Qualifiers
     source          1..3574
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3574
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /note="patched domain containing 3 (gene/pseudogene)"
                     /db_xref="GeneID:374308"
                     /db_xref="HGNC:HGNC:24776"
                     /db_xref="MIM:611791"
     exon            1..1186
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..2401
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     patched domain-containing protein 3; patched-related
                     protein"
                     /codon_start=1
                     /product="patched domain-containing protein 3 isoform 1"
                     /protein_id="NP_001030014.2"
                     /db_xref="GeneID:374308"
                     /db_xref="HGNC:HGNC:24776"
                     /db_xref="MIM:611791"
                     /translation="MPWVEPKPRPGPEQKPKLTKPDSATGPQWYQESQESESEGKQPP
                     PGPLAPPKSPEPSGPLASEQDAPLPEGDDAPPRPSMLDDAPRLPLELDDAPLPEEETP
                     EPTAICRHRHRCHTDCLEGLLSRTFQWLGWQVGAHPWIFLLAPLMLTAALGTGFLYLP
                     KDEEEDLEEHYTPVGSPAKAERRFVQGHFTTNDSYRFSASRRSTEANFVSLLVVSYSD
                     SLLDPATFAEVSKLDGAVQDLRVAREKGSQIQYQQVCARYRALCVPPNPILYAWQVNK
                     TLNLSSISFPAYNHGRHPLYLTGFFGGYILGGSLGMGQLLLRAKAMRLLYYLKTEDPE
                     YDVQSKQWLTHLLDQFTNIKNILALKKIEVVHFTSLSRQLEFEATSVTVIPVFHLAYI
                     LIILFAVTSCFRFDCIRNKMCVAAFGVISAFLAVVSGFGLLLHIGVPFVIIVANSPFL
                     ILGVGVDDMFIMISAWHKTNLADDIRERMSNVYSKAAVSITITTITNILALYTGIMSS
                     FRSVQCFCIYTGMTLLFCYFYNITCFGAFMALDGKREVVCLCWLKKADPKWPSFKKFC
                     CFPFGSVPDEHGTDIHPISLFFRDYFGPFLTRSESKYFVVFIYVLYIISSIYGCFHVQ
                     EGLDLRNLASDDSYITPYFNVEENYFSDYGPRVMVIVTKKVDYWDKDVRQKLENCTKI
                     FEKNVYVDKNLTEFWLDAYVQYLKGNSQDPNEKNTFMNNIPDFLSNFPNFQHDINISS
                     SNEIISSRGFIQTTDVSSSAKKKILLF"
     exon            1187..1308
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1454
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..3574
                     /gene="PTCHD3"
                     /gene_synonym="PTR; SLC65C3"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aggagagcgt tgggtggggc caggaaaccg tctggtggga tctccgcagc tgcttttcac
       61 ctgctgttcc tcctgcgctt cctaagagga agaatcaatg ccgtgggtgg agcccaagcc
      121 caggccgggg ccggagcaga agcccaagct caccaaaccg gactctgcca ccgggccgca
      181 gtggtaccag gaatctcagg aatcggagtc ggaaggcaag cagccacccc cgggacccct
      241 ggcacccccg aaatcccccg aaccctcagg acccctggcg tcggagcagg atgcacccct
      301 gccagagggg gacgatgcac ccccccggcc gtcgatgctg gacgatgcac cccgcctgcc
      361 gctggagctg gacgatgcac ccctgccgga ggaggaaacc cccgaaccca cggccatctg
      421 caggcaccgg caccgctgtc acaccgactg cctagagggg ctgctgtccc gcaccttcca
      481 gtggctgggg tggcaggtgg gcgcgcaccc ctggatcttc ctgctggcgc ccttgatgct
      541 gacagccgcg ctgggcaccg gcttcctgta cctacccaag gacgaagagg aagacctaga
      601 ggagcattac acccctgtgg ggagcccggc caaggcggag cggcgcttcg tgcagggcca
      661 tttcaccacc aacgactcct accgcttctc cgcctccagg aggagcaccg aagccaattt
      721 cgtctcgctt ctggtggtct cctacagcga ctcactgctg gacccagcta cctttgcaga
      781 agtcagcaaa ctggacggcg cggtgcagga tctgcgcgtg gcgcgggaaa agggaagcca
      841 gatccagtac cagcaggtgt gcgcgaggta cagggcgctc tgcgtgcccc ccaacccgat
      901 cctgtacgcc tggcaggtga acaaaacgct caacctgagc agcatctcct tccccgccta
      961 caaccacggc aggcatcccc tctacctgac cggcttcttc ggaggataca tcttgggggg
     1021 cagcctagga atgggccagt tactcctgcg ggccaaagcc atgcggctgc tgtactacct
     1081 gaagaccgag gaccctgagt acgacgtgca gagcaagcag tggctcaccc atttgctcga
     1141 tcaatttacc aacattaaga acatcttggc cttgaaaaaa attgaggtag tccactttac
     1201 atcgctttcc agacaactgg aatttgaggc aacttctgtg actgtgatcc ctgtgtttca
     1261 cctggcatac attctcatca ttctgtttgc agtcacatca tgctttaggt ttgactgcat
     1321 acgaaacaaa atgtgtgttg cggcctttgg agtgatttct gctttcttgg cagtggtgag
     1381 cggctttggc ctgctgttgc acattggggt gccatttgtc atcatagttg ccaattcacc
     1441 atttcttatt ctaggtgttg gggtcgatga catgtttatc atgatttctg cctggcataa
     1501 gaccaacctt gcagatgaca tacgagagcg gatgtccaat gtctattcaa aagcggcagt
     1561 gtctattaca atcaccacca tcactaacat cctggcctta tatacaggga ttatgagctc
     1621 ttttaggtct gtacaatgtt tttgcatcta tacaggaatg accctgttat tttgctattt
     1681 ttataacatc acgtgttttg gagcatttat ggccttggat ggtaaaagag aagtagtctg
     1741 cctatgctgg ttgaaaaagg ctgacccaaa atggccctca tttaaaaagt tctgctgttt
     1801 cccatttggt tctgtcccag atgaacatgg aactgatatc catccaataa gtttgttttt
     1861 tagagactat tttggcccct ttctcacaag gagtgagtcc aagtattttg tagtctttat
     1921 atatgttttg tacatcataa gcagtatata tgggtgtttc catgtgcagg aaggtttaga
     1981 ccttcgaaat ctggcaagtg acgattccta catcacacca tattttaacg tagaggagaa
     2041 ttatttttca gattatggtc ccagggttat ggttattgtt actaaaaaag ttgactactg
     2101 ggataaagat gttaggcaaa aactggaaaa ctgtactaaa atttttgaaa aaaatgtcta
     2161 tgtagataaa aatcttacag agttttggtt agatgcatat gtgcaatatt taaaaggtaa
     2221 cagccaagat cctaatgaga agaatacttt tatgaacaat attcctgatt ttttaagcaa
     2281 ttttccaaat tttcagcatg atattaatat ttcttcatca aatgaaatca tttcttcccg
     2341 gggcttcatt cagacaacag atgtttcttc ctcagccaaa aagaaaatat tgttattcta
     2401 attacgacgc atagctgaag actgtcaaat tcccctaatg gtgtataacc aggcatttat
     2461 atattttgat cagtatgctg caatattaga agacactgtt agaaatgtat tggttgcatc
     2521 agcagctatg ttcattgttt ccttattgtt aatcccttat ccattgtgtt ccttgtgggt
     2581 gacttttgct attggttctg tgattgtagg ggtaacgggt ttcatggcat tctggaaagt
     2641 caatcttgat tccatatcca tgattaatct tgtcatttgt atagggtttt ctttcgattt
     2701 ttctgtacac atttcctatg catttgtttc tagttctcaa ccctcagtaa accaaaaatc
     2761 agttgaggca ttgtatcttc taggctaccc agtgttacaa agtgcaattt caacaataat
     2821 aggggtgtgt gttttagctg cagcgaaagc atacatcttc agaacatttt ttaagattat
     2881 gtttcttgtt atgatatttg gggcagctca tggcctaatt tttattccag tattcttaac
     2941 cttttttgga aggtttattt gaatatccac taacaagtca aagaccaatt ctagaattcc
     3001 tgattgccct attccaatct gattttttta aatgcactat taagaatagt caacaaacta
     3061 ctgggaggcc aaggtgggtg gatcacctga ggtcaagaat tcgagaccag cctggccaac
     3121 atggtgaaac ctcgacacta ctgaaaatac aaaaattatc caggcatggt ggcgtgcacc
     3181 tataatccca gctacctggg aggctgaggc aggagaatcg cttgaacctg ggagatggag
     3241 gttgcagtga gctggagtgc accaggcact ccagcctggg tgacaagaat gagactccgt
     3301 ctcagaaaaa aaaaaaaaag tcaacaaacc aaaaacaagg gcatgtttcc ttgacttgga
     3361 aatcccattt taaattatta tttaaaatat actgataaaa attaattagt cttatgttaa
     3421 aatatcttca ctaaattagg aagtgttatc tttcttacag tctttacaat caagtacaag
     3481 gtacaacttt tctgttattt tttcccttta tatttatgcc tgaaattcaa ctattgtatg
     3541 tattgttcat actataaatg gaatattatt ttca
//
