LOCUS       NM_000281                787 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens pterin-4 alpha-carbinolamine dehydratase 1 (PCBD1),
            transcript variant 1, mRNA.
ACCESSION   NM_000281
VERSION     NM_000281.4
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 787)
  AUTHORS   Goos,H., Kinnunen,M., Salokas,K., Tan,Z., Liu,X., Yadav,L.,
            Zhang,Q., Wei,G.H. and Varjosalo,M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 787)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 787)
  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   4  (bases 1 to 787)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 787)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 787)
  AUTHORS   Sourdive,D.J., Transy,C., Garbay,S. and Yaniv,M.
  TITLE     The bifunctional DCOH protein binds to HNF1 independently of its
            4-alpha-carbinolamine dehydratase activity
  JOURNAL   Nucleic Acids Res 25 (8), 1476-1484 (1997)
   PUBMED   9092652
  REMARK    GeneRIF: Pcbd1 is a moonlighting protein that has dehydratase
            activity in addition to functioning as a cofactor which regulates
            HNF1alpha.
REFERENCE   7  (bases 1 to 787)
  AUTHORS   Thony,B., Neuheiser,F., Blau,N. and Heizmann,C.W.
  TITLE     Characterization of the human PCBD gene encoding the bifunctional
            protein pterin-4 alpha-carbinolamine dehydratase/dimerization
            cofactor for the transcription factor HNF-1 alpha
  JOURNAL   Biochem Biophys Res Commun 210 (3), 966-973 (1995)
   PUBMED   7763270
REFERENCE   8  (bases 1 to 787)
  AUTHORS   Thony,B., Heizmann,C.W. and Mattei,M.G.
  TITLE     Chromosomal location of two human genes encoding
            tetrahydrobiopterin-metabolizing enzymes:
            6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and
            pterin-4 alpha-carbinolamine dehydratase maps to 10q22
  JOURNAL   Genomics 19 (2), 365-368 (1994)
   PUBMED   8188266
REFERENCE   9  (bases 1 to 787)
  AUTHORS   Citron,B.A., Kaufman,S., Milstien,S., Naylor,E.W., Greene,C.L. and
            Davis,M.D.
  TITLE     Mutation in the 4a-carbinolamine dehydratase gene leads to mild
            hyperphenylalaninemia with defective cofactor metabolism
  JOURNAL   Am J Hum Genet 53 (3), 768-774 (1993)
   PUBMED   8352282
REFERENCE   10 (bases 1 to 787)
  AUTHORS   Mendel,D.B., Khavari,P.A., Conley,P.B., Graves,M.K., Hansen,L.P.,
            Admon,A. and Crabtree,G.R.
  TITLE     Characterization of a cofactor that regulates dimerization of a
            mammalian homeodomain protein
  JOURNAL   Science 254 (5039), 1762-1767 (1991)
   PUBMED   1763325
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ685076.1 and BC006324.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000281.3.
            
            Summary: This gene encodes a member of the
            pterin-4-alpha-carbinolamine dehydratase family. The encoded
            protein has been identified as a moonlighting protein based on its
            ability to perform mechanistically distinct functions. The encoded
            protein functions as both a dehydratase involved in
            tetrahydrobiopterin biosynthesis, and as a cofactor for
            HNF1A-dependent transcription. A deficiency of this enzyme leads to
            hyperphenylalaninemia. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            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 :: AF082858.1, SRR5189661.168037.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000299299.4/
                                               ENSP00000299299.3
            multifunctional gene product(s) :: PMID: 9092652
            RefSeq Select criteria          :: based on conservation,
                                               expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BQ685076.1         220-233
            15-787              BC006324.2         1-773
FEATURES             Location/Qualifiers
     source          1..787
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q22.1"
     gene            1..787
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="pterin-4 alpha-carbinolamine dehydratase 1"
                     /db_xref="GeneID:5092"
                     /db_xref="HGNC:HGNC:8646"
                     /db_xref="MIM:126090"
     exon            1..35
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /inference="alignment:Splign:2.1.0"
     CDS             33..347
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /EC_number="4.2.1.96"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dimerizing cofactor for HNF1; 6-pyruvoyl-tetrahydropterin
                     synthase/dimerization cofactor of hepatocyte nuclear
                     factor 1 alpha (TCF1); phenylalanine
                     hydroxylase-stimulating protein;
                     4-alpha-hydroxy-tetrahydropterin dehydratase; pterin-4
                     alpha-carbinolamine dehydratase/dimerization cofactor of
                     hepatocyte nuclear factor 1 alpha"
                     /codon_start=1
                     /product="pterin-4-alpha-carbinolamine dehydratase isoform
                     1"
                     /protein_id="NP_000272.1"
                     /db_xref="CCDS:CCDS31217.1"
                     /db_xref="GeneID:5092"
                     /db_xref="HGNC:HGNC:8646"
                     /db_xref="MIM:126090"
                     /translation="MAGKAHRLSAEERDQLLPNLRAVGWNELEGRDAIFKQFHFKDFN
                     RAFGFMTRVALQAEKLDHHPEWFNVYNKVHITLSTHECAGLSERDINLASFIEQVAVS
                     MT"
     exon            36..167
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /inference="alignment:Splign:2.1.0"
     exon            168..248
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /inference="alignment:Splign:2.1.0"
     exon            249..787
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      765..770
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="hexamer: AATAAA"
     polyA_site      787
                     /gene="PCBD1"
                     /gene_synonym="DCOH; PCBD; PCD; PHS"
                     /note="major polyA site"
ORIGIN      
        1 ctctccgctg gccacctgct gccgcccgcg ccatggctgg caaagcacac aggctgagcg
       61 ctgaggagag ggaccagctg ctgccaaacc tgagggctgt ggggtggaat gagctggaag
      121 gccgtgatgc catcttcaag cagtttcatt tcaaagactt caacagggcc tttgggttca
      181 tgacaagagt ggccctgcag gctgagaaac tggaccacca tcctgaatgg tttaacgtgt
      241 acaacaaggt ccacatcacg ctgagcaccc atgagtgtgc cggcctttca gaacgggaca
      301 taaacctggc cagcttcatc gaacaagtag cagtgtccat gacatagacc ctgcccttcc
      361 tctttgaatt cttccggggg aaggggtgac tgaactggga gtccagggag ggagctgagg
      421 agcccttacc ctcccaccac tcccctccca agacccagcc gccgccgttg agggctgagt
      481 ccttgctgtg ggatgtgcca gtgtccccac caacaccagg aatttagacc ttttccctgc
      541 accactctct tcatcctggg ggctctgtta cactaatttg aataaactct cccctttctt
      601 tgcaacttcc cagcaacaat aatgattttc ttgccaggcc gtctcttgct ccctaattca
      661 tttcccagga agctgtgata cagggtgaaa taaagtcttg tcttagaaac caggacccta
      721 aaccccacac tatgtaatag aaacacatgt gtttttatgt ctcaaataaa actattatat
      781 cacttgg
//
