LOCUS       NM_032151               2365 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens pterin-4 alpha-carbinolamine dehydratase 2 (PCBD2),
            mRNA.
ACCESSION   NM_032151
VERSION     NM_032151.5
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 2365)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   2  (bases 1 to 2365)
  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 2365)
  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 2365)
  AUTHORS   Zhang,D.L. and Yang,N.
  TITLE     MiR-3174 functions as an oncogene in rectal cancer by targeting
            PCBD2
  JOURNAL   Eur Rev Med Pharmacol Sci 23 (6), 2417-2426 (2019)
   PUBMED   30964167
  REMARK    GeneRIF: MiR-3174 functions as an oncogene in rectal cancer by
            targeting PCBD2.
REFERENCE   5  (bases 1 to 2365)
  AUTHORS   Mahajan,A., Go,M.J., Zhang,W., Below,J.E., Gaulton,K.J.,
            Ferreira,T., Horikoshi,M., Johnson,A.D., Ng,M.C., Prokopenko,I.,
            Saleheen,D., Wang,X., Zeggini,E., Abecasis,G.R., Adair,L.S.,
            Almgren,P., Atalay,M., Aung,T., Baldassarre,D., Balkau,B., Bao,Y.,
            Barnett,A.H., Barroso,I., Basit,A., Been,L.F., Beilby,J.,
            Bell,G.I., Benediktsson,R., Bergman,R.N., Boehm,B.O.,
            Boerwinkle,E., Bonnycastle,L.L., Burtt,N., Cai,Q., Campbell,H.,
            Carey,J., Cauchi,S., Caulfield,M., Chan,J.C., Chang,L.C.,
            Chang,T.J., Chang,Y.C., Charpentier,G., Chen,C.H., Chen,H.,
            Chen,Y.T., Chia,K.S., Chidambaram,M., Chines,P.S., Cho,N.H.,
            Cho,Y.M., Chuang,L.M., Collins,F.S., Cornelis,M.C., Couper,D.J.,
            Crenshaw,A.T., van Dam,R.M., Danesh,J., Das,D., de Faire,U.,
            Dedoussis,G., Deloukas,P., Dimas,A.S., Dina,C., Doney,A.S.,
            Donnelly,P.J., Dorkhan,M., van Duijn,C., Dupuis,J., Edkins,S.,
            Elliott,P., Emilsson,V., Erbel,R., Eriksson,J.G., Escobedo,J.,
            Esko,T., Eury,E., Florez,J.C., Fontanillas,P., Forouhi,N.G.,
            Forsen,T., Fox,C., Fraser,R.M., Frayling,T.M., Froguel,P.,
            Frossard,P., Gao,Y., Gertow,K., Gieger,C., Gigante,B., Grallert,H.,
            Grant,G.B., Grrop,L.C., Groves,C.J., Grundberg,E., Guiducci,C.,
            Hamsten,A., Han,B.G., Hara,K., Hassanali,N., Hattersley,A.T.,
            Hayward,C., Hedman,A.K., Herder,C., Hofman,A., Holmen,O.L.,
            Hovingh,K., Hreidarsson,A.B., Hu,C., Hu,F.B., Hui,J.,
            Humphries,S.E., Hunt,S.E., Hunter,D.J., Hveem,K., Hydrie,Z.I.,
            Ikegami,H., Illig,T., Ingelsson,E., Islam,M., Isomaa,B.,
            Jackson,A.U., Jafar,T., James,A., Jia,W., Jockel,K.H., Jonsson,A.,
            Jowett,J.B., Kadowaki,T., Kang,H.M., Kanoni,S., Kao,W.H.,
            Kathiresan,S., Kato,N., Katulanda,P., Keinanen-Kiukaanniemi,K.M.,
            Kelly,A.M., Khan,H., Khaw,K.T., Khor,C.C., Kim,H.L., Kim,S.,
            Kim,Y.J., Kinnunen,L., Klopp,N., Kong,A., Korpi-Hyovalti,E.,
            Kowlessur,S., Kraft,P., Kravic,J., Kristensen,M.M., Krithika,S.,
            Kumar,A., Kumate,J., Kuusisto,J., Kwak,S.H., Laakso,M., Lagou,V.,
            Lakka,T.A., Langenberg,C., Langford,C., Lawrence,R., Leander,K.,
            Lee,J.M., Lee,N.R., Li,M., Li,X., Li,Y., Liang,J., Liju,S.,
            Lim,W.Y., Lind,L., Lindgren,C.M., Lindholm,E., Liu,C.T., Liu,J.J.,
            Lobbens,S., Long,J., Loos,R.J., Lu,W., Luan,J., Lyssenko,V.,
            Ma,R.C., Maeda,S., Magi,R., Mannisto,S., Matthews,D.R., Meigs,J.B.,
            Melander,O., Metspalu,A., Meyer,J., Mirza,G., Mihailov,E.,
            Moebus,S., Mohan,V., Mohlke,K.L., Morris,A.D., Muhleisen,T.W.,
            Muller-Nurasyid,M., Musk,B., Nakamura,J., Nakashima,E., Navarro,P.,
            Ng,P.K., Nica,A.C., Nilsson,P.M., Njolstad,I., Nothen,M.M.,
            Ohnaka,K., Ong,T.H., Owen,K.R., Palmer,C.N., Pankow,J.S.,
            Park,K.S., Parkin,M., Pechlivanis,S., Pedersen,N.L., Peltonen,L.,
            Perry,J.R., Peters,A., Pinidiyapathirage,J.M., Platou,C.G.,
            Potter,S., Price,J.F., Qi,L., Radha,V., Rallidis,L., Rasheed,A.,
            Rathman,W., Rauramaa,R., Raychaudhuri,S., Rayner,N.W., Rees,S.D.,
            Rehnberg,E., Ripatti,S., Robertson,N., Roden,M., Rossin,E.J.,
            Rudan,I., Rybin,D., Saaristo,T.E., Salomaa,V., Saltevo,J.,
            Samuel,M., Sanghera,D.K., Saramies,J., Scott,J., Scott,L.J.,
            Scott,R.A., Segre,A.V., Sehmi,J., Sennblad,B., Shah,N., Shah,S.,
            Shera,A.S., Shu,X.O., Shuldiner,A.R., Sigurdsson,G., Sijbrands,E.,
            Silveira,A., Sim,X., Sivapalaratnam,S., Small,K.S., So,W.Y.,
            Stancakova,A., Stefansson,K., Steinbach,G., Steinthorsdottir,V.,
            Stirrups,K., Strawbridge,R.J., Stringham,H.M., Sun,Q., Suo,C.,
            Syvanen,A.C., Takayanagi,R., Takeuchi,F., Tay,W.T., Teslovich,T.M.,
            Thorand,B., Thorleifsson,G., Thorsteinsdottir,U., Tikkanen,E.,
            Trakalo,J., Tremoli,E., Trip,M.D., Tsai,F.J., Tuomi,T.,
            Tuomilehto,J., Uitterlinden,A.G., Valladares-Salgado,A.,
            Vedantam,S., Veglia,F., Voight,B.F., Wang,C., Wareham,N.J.,
            Wennauer,R., Wickremasinghe,A.R., Wilsgaard,T., Wilson,J.F.,
            Wiltshire,S., Winckler,W., Wong,T.Y., Wood,A.R., Wu,J.Y., Wu,Y.,
            Yamamoto,K., Yamauchi,T., Yang,M., Yengo,L., Yokota,M., Young,R.,
            Zabaneh,D., Zhang,F., Zhang,R., Zheng,W., Zimmet,P.Z.,
            Altshuler,D., Bowden,D.W., Cho,Y.S., Cox,N.J., Cruz,M., Hanis,C.L.,
            Kooner,J., Lee,J.Y., Seielstad,M., Teo,Y.Y., Boehnke,M.,
            Parra,E.J., Chambers,J.C., Tai,E.S., McCarthy,M.I. and Morris,A.P.
  CONSRTM   DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
            Consortium; Asian Genetic Epidemiology Network Type 2 Diabetes
            (AGEN-T2D) Consortium; South Asian Type 2 Diabetes (SAT2D)
            Consortium; Mexican American Type 2 Diabetes (MAT2D) Consortium;
            Type 2 Diabetes Genetic Exploration by Nex-generation sequencing in
            muylti-Ethnic Samples (T2D-GENES) Consortium
  TITLE     Genome-wide trans-ancestry meta-analysis provides insight into the
            genetic architecture of type 2 diabetes susceptibility
  JOURNAL   Nat Genet 46 (3), 234-244 (2014)
   PUBMED   24509480
REFERENCE   6  (bases 1 to 2365)
  AUTHORS   Schaaf,C.P., Benzing,J., Schmitt,T., Erz,D.H., Tewes,M.,
            Bartram,C.R. and Janssen,J.W.
  TITLE     Novel interaction partners of the TPR/MET tyrosine kinase
  JOURNAL   FASEB J 19 (2), 267-269 (2005)
   PUBMED   15546961
REFERENCE   7  (bases 1 to 2365)
  AUTHORS   Rose,R.B., Pullen,K.E., Bayle,J.H., Crabtree,G.R. and Alber,T.
  TITLE     Biochemical and structural basis for partially redundant enzymatic
            and transcriptional functions of DCoH and DCoH2
  JOURNAL   Biochemistry 43 (23), 7345-7355 (2004)
   PUBMED   15182178
REFERENCE   8  (bases 1 to 2365)
  AUTHORS   Arias,J.M., Murbartian,J. and Perez-Reyes,E.
  TITLE     Cloning of a novel one-repeat calcium channel-like gene
  JOURNAL   Biochem Biophys Res Commun 303 (1), 31-36 (2003)
   PUBMED   12646162
  REMARK    GeneRIF: PMID: 12646162 concludes Alu repeats interfere with
            splicing of DCOHM and CAVL such that transcripts containing exons
            of both genes exist.
REFERENCE   9  (bases 1 to 2365)
  AUTHORS   Lim,S., Jin,K. and Friedman,E.
  TITLE     Mirk protein kinase is activated by MKK3 and functions as a
            transcriptional activator of HNF1alpha
  JOURNAL   J Biol Chem 277 (28), 25040-25046 (2002)
   PUBMED   11980910
  REMARK    Erratum:[J Biol Chem. 2004 Feb 6;279(6):5047]
REFERENCE   10 (bases 1 to 2365)
  AUTHORS   Suzuki,H., Fukunishi,Y., Kagawa,I., Saito,R., Oda,H., Endo,T.,
            Kondo,S., Bono,H., Okazaki,Y. and Hayashizaki,Y.
  TITLE     Protein-protein interaction panel using mouse full-length cDNAs
  JOURNAL   Genome Res 11 (10), 1758-1765 (2001)
   PUBMED   11591653
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC054021.1, AC008670.6 and BU730195.1.
            
            On Jul 31, 2019 this sequence version replaced NM_032151.4.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            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 :: SRR11853562.26300.1,
                                           SRR14243140.8581094.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000254908.11/ ENSP00000254908.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-471               BC054021.1         15-485
            472-1806            AC008670.6         48170-49504         c
            1807-2365           BU730195.1         20-578              c
FEATURES             Location/Qualifiers
     source          1..2365
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.1"
     gene            1..2365
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /note="pterin-4 alpha-carbinolamine dehydratase 2"
                     /db_xref="GeneID:84105"
                     /db_xref="HGNC:HGNC:24474"
                     /db_xref="MIM:609836"
     exon            1..93
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..402
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /EC_number="4.2.1.96"
                     /note="6-pyruvoyl-tetrahydropterin synthase/dimerization
                     cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2;
                     dimerization cofactor of hepatocyte nuclear factor 1
                     (HNF1) from muscle; DcoH-like protein DCoHm; PHS 2;
                     HNF-1-alpha dimerization cofactor;
                     4-alpha-hydroxy-tetrahydropterin dehydratase 2;
                     dimerization cofactor of hepatocyte nuclear factor 1 from
                     muscle; pterin-4 alpha-carbinolamine
                     dehydratase/dimerization cofactor of hepatocyte nuclear
                     factor 1 alpha (TCF1) 2"
                     /codon_start=1
                     /product="pterin-4-alpha-carbinolamine dehydratase 2"
                     /protein_id="NP_115527.3"
                     /db_xref="CCDS:CCDS43364.1"
                     /db_xref="GeneID:84105"
                     /db_xref="HGNC:HGNC:24474"
                     /db_xref="MIM:609836"
                     /translation="MAAVLGALGATRRLLAALRGQSLGLAAMSSGTHRLTAEERNQAI
                     LDLKAAGWSELSERDAIYKEFSFHNFNQAFGFMSRVALQAEKMNHHPEWFNVYNKVQI
                     TLTSHDCGELTKKDVKLAKFIEKAAASV"
     exon            94..225
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /inference="alignment:Splign:2.1.0"
     exon            226..306
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /inference="alignment:Splign:2.1.0"
     exon            307..2365
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      478
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /note="major polyA site"
     polyA_site      922
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
     regulatory      2344..2349
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /note="hexamer: ATTAAA"
     polyA_site      2365
                     /gene="PCBD2"
                     /gene_synonym="DCOH2; DCOHM; PHS2"
                     /note="major polyA site"
ORIGIN      
        1 agacggccaa tggcggcggt gctcggggcg ctcggggcga cgcggcgctt gttggcggcg
       61 ctgcgaggcc agagcctagg gctagcggcc atgtcatcag gtactcacag gttgactgca
      121 gaggagagga accaagctat acttgacctt aaagcagcag gatggtcgga attaagtgag
      181 agagatgcca tctacaaaga attctccttc cacaatttta atcaggcatt tggctttatg
      241 tcccgagttg ccctacaagc agagaagatg aatcatcacc cagaatggtt caatgtatac
      301 aacaaggtcc agataactct cacctcacat gactgtggtg aactgaccaa aaaagatgtg
      361 aagctggcca agtttattga aaaagcagct gcttctgtgt gatttcttcc aaaatacatg
      421 taaaatcttg tacacatctt agctgcaatg tatgttgaag gaaatttatg tgaacaaata
      481 gagttgttct ttttctcttt tttttaagac agagtgttgc tctgtcgccc aggccagagt
      541 gcagtggtat gatctcggct cactgtaacc tccgcctccc aggttcaggt gattctcctg
      601 cctcagcctc ctgagtagct gggattacaa gcacgtgtca ccacgcctgg ctaatttttg
      661 tatttttagt atagacaggg ttttaccacg ttggtcaggc tggtctcgaa ctcctgacct
      721 cgtgatccgc ctgcctcagc ctcccaaagt gctgggatta caggcatgag ccaccatgcc
      781 tggctgttga attgttctta aggcatcata tctagaagca aagaaaaaag aaaaataaca
      841 atttaagttg tgtaaattgt ttgcctttat atattacatt tggtaaaatc agtgcttaaa
      901 tacgcaatga tttaaactgg aacctgaggt atttttcatg ctatctaatc atatacctaa
      961 gataaaccaa cccagttact tatattaata atattcagaa agagaagtgg cttttttttt
     1021 tttttgagac ggagtcttgc tctgtcacca ggctggagtg cagtggcggg atctcggctc
     1081 actgcaacct ctgcctccca ggttcaaatg attctcctgc cacagcctcc cgagtagctg
     1141 ggactatagg cacgtgccac tgcgcctagc taatttttgt atttttagta gagatggggt
     1201 ttcattatgt tggccaggat ggtctcgatc tactgacctc gtgatccacc tgcctccacc
     1261 tccgaaagtg ttgggatcac aggcatgagc caccgcgctt ggccagaagt ggcattctta
     1321 aattcaagaa attgggatgg ggagtattca cacattttat aacccagaaa ttcaagcaat
     1381 tctggtgact acaaatgcat tgttttggag aatagttgta aggtggaaaa agaattagga
     1441 actcgacaga tagtgagttt taactttaaa taacaattct tcttttgttt tgttttgttt
     1501 gagacggggt ctcgctctgc tgcccaggct ggagtgcagt ggcaggatca cggtttattg
     1561 cagccttaac ctcctgggct caagcagttc tccctcctca gcctccagag tagctgggac
     1621 tataggcaag tgccaccacg cctgactaat ttttaaattt tttgtagaga tggggtctcc
     1681 catcttgccc aggctggcct tgaactcttg ggctcaagca agcctcccac ctctgcctcc
     1741 caaagtccaa ggattacagg tgtgagccat tgcccccagc cagtataaca gtttgtgtgt
     1801 gtgtgtgtgt gtgtgtgtgt gtgtgtgttt gacacggggt ctcattctgt tgcccaggca
     1861 gtagtgtagt ggtgcgacca tggctcactg tagtcttgac ttctcaggct caagtgatcc
     1921 tctcacctca gcctcctgag tagcagcggt tacaggcatg catcaccaca cctggcttat
     1981 ttttaaaact tttttgtgga gacagggtct tactatgttg ccatggctgg tctagaactt
     2041 ctgggctcga gtaatcctcc tgccttggcc tctcaaaatg ttgggattac aggtgtgagc
     2101 cactgtgtca taacaattat tttaaaattt ttatttattt atttttaata attatacaag
     2161 atggagtctc actatgttgc ccaggctggt cttgaatgcc tgggctcaaa tgatcttcct
     2221 gccttgaccc cccaaagtgc tgggattaca ggcgtgagcc actgcgcctg gcctataaca
     2281 attcttatga agctaaagtt gatttggatt ttagctgccg ttactactta tataattaat
     2341 tagattaaac aagtcacaaa aattg
//
