LOCUS       NM_014262               2631 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens prolyl 3-hydroxylase 3 (P3H3), mRNA.
ACCESSION   NM_014262
VERSION     NM_014262.5
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 2631)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2631)
  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   3  (bases 1 to 2631)
  AUTHORS   Major,J.M., Yu,K., Chung,C.C., Weinstein,S.J., Yeager,M.,
            Wheeler,W., Snyder,K., Wright,M.E., Virtamo,J., Chanock,S. and
            Albanes,D.
  TITLE     Genome-wide association study identifies three common variants
            associated with serologic response to vitamin E supplementation in
            men
  JOURNAL   J Nutr 142 (5), 866-871 (2012)
   PUBMED   22437554
REFERENCE   4  (bases 1 to 2631)
  AUTHORS   Hosgood,H.D. 3rd, Zhang,L., Shen,M., Berndt,S.I., Vermeulen,R.,
            Li,G., Yin,S., Yeager,M., Yuenger,J., Rothman,N., Chanock,S.,
            Smith,M. and Lan,Q.
  TITLE     Association between genetic variants in VEGF, ERCC3 and
            occupational benzene haematotoxicity
  JOURNAL   Occup Environ Med 66 (12), 848-853 (2009)
   PUBMED   19773279
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2631)
  AUTHORS   Chapuis,J., Hot,D., Hansmannel,F., Kerdraon,O., Ferreira,S.,
            Hubans,C., Maurage,C.A., Huot,L., Bensemain,F., Laumet,G.,
            Ayral,A.M., Fievet,N., Hauw,J.J., DeKosky,S.T., Lemoine,Y.,
            Iwatsubo,T., Wavrant-Devrieze,F., Dartigues,J.F., Tzourio,C.,
            Buee,L., Pasquier,F., Berr,C., Mann,D., Lendon,C., Alperovitch,A.,
            Kamboh,M.I., Amouyel,P. and Lambert,J.C.
  TITLE     Transcriptomic and genetic studies identify IL-33 as a candidate
            gene for Alzheimer's disease
  JOURNAL   Mol Psychiatry 14 (11), 1004-1016 (2009)
   PUBMED   19204726
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2631)
  AUTHORS   Shah,R., Smith,P., Purdie,C., Quinlan,P., Baker,L., Aman,P.,
            Thompson,A.M. and Crook,T.
  TITLE     The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for
            epigenetic silencing in breast cancer
  JOURNAL   Br J Cancer 100 (10), 1687-1696 (2009)
   PUBMED   19436308
REFERENCE   7  (bases 1 to 2631)
  AUTHORS   Vranka,J.A., Sakai,L.Y. and Bachinger,H.P.
  TITLE     Prolyl 3-hydroxylase 1, enzyme characterization and identification
            of a novel family of enzymes
  JOURNAL   J Biol Chem 279 (22), 23615-23621 (2004)
   PUBMED   15044469
REFERENCE   8  (bases 1 to 2631)
  AUTHORS   Ansari-Lari,M.A., Shen,Y., Muzny,D.M., Lee,W. and Gibbs,R.A.
  TITLE     Large-scale sequencing in human chromosome 12p13: experimental and
            computational gene structure determination
  JOURNAL   Genome Res 7 (3), 268-280 (1997)
   PUBMED   9074930
REFERENCE   9  (bases 1 to 2631)
  AUTHORS   Ansari-Lari,M.A., Muzny,D.M., Lu,J., Lu,F., Lilley,C.E., Spanos,S.,
            Malley,T. and Gibbs,R.A.
  TITLE     A gene-rich cluster between the CD4 and triosephosphate isomerase
            genes at human chromosome 12p13
  JOURNAL   Genome Res 6 (4), 314-326 (1996)
   PUBMED   8723724
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ430349.1 and BQ009002.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014262.4.
            
            Summary: The protein encoded by this gene belongs to the leprecan
            family of proteoglycans, which function as collagen prolyl
            hydroxylases that are required for proper collagen biosynthesis,
            folding and assembly. This protein, like other family members, is
            thought to reside in the endoplasmic reticulum. Epigenetic
            inactivation of this gene is associated with breast and other
            cancers, suggesting that it may function as a tumor suppressor.
            [provided by RefSeq, Aug 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK025976.1, BC017217.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290510.10/ ENSP00000478600.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2630              AJ430349.1         264-2893
            2631-2631           BQ009002.1         26-26               c
FEATURES             Location/Qualifiers
     source          1..2631
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2631
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /note="prolyl 3-hydroxylase 3"
                     /db_xref="GeneID:10536"
                     /db_xref="HGNC:HGNC:19318"
                     /db_xref="MIM:610342"
     exon            1..532
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..2245
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /EC_number="1.14.11.7"
                     /note="gene rich cluster, B; protein B;
                     procollagen-proline 3-dioxygenase; leprecan-like 2"
                     /codon_start=1
                     /product="prolyl 3-hydroxylase 3 precursor"
                     /protein_id="NP_055077.2"
                     /db_xref="CCDS:CCDS61027.1"
                     /db_xref="GeneID:10536"
                     /db_xref="HGNC:HGNC:19318"
                     /db_xref="MIM:610342"
                     /translation="MLRLLRPLLLLLLLPPPGSPEPPGLTQLSPGAPPQAPDLLYADG
                     LRAYAAGAWAPAVALLREALRSQAALGRVRLDCGASCAADPGAALPAVLLGAPEPDSG
                     PGPTQGSWERQLLRAALRRADCLTQCAARRLGPGGAARLRVGSALRDAFRRREPYNYL
                     QRAYYQLKKLDLAAAAAHTFFVANPMHLQMREDMAKYRRMSGVRPQSFRDLETPPHWA
                     AYDTGLELLGRQEAGLALPRLEEALQGSLAQMESCRADCEGPEEQQGAEEEEDGAASQ
                     GGLYEAIAGHWIQVLQCRQRCVGETATRPGRSFPVPDFLPNQLRRLHEAHAQVGNLSQ
                     AIENVLSVLLFYPEDEAAKRALNQYQAQLGEPRPGLGPREDIQRFILRSLGEKRQLYY
                     AMEHLGTSFKDPDPWTPAALIPEALREKLREDQEKRPWDHEPVKPKPLTYWKDVLLLE
                     GVTLTQDSRQLNGSERAVLDGLLTPAECGVLLQLAKDAAGAGARSGYRGRRSPHTPHE
                     RFEGLTVLKAAQLARAGTVGSQGAKLLLEVSERVRTLTQAYFSPERPLHLSFTHLVCR
                     SAIEGEQEQRMDLSHPVHADNCVLDPDTGECWREPPAYTYRDYSGLLYLNDDFQGGDL
                     FFTEPNALTVTARVRPRCGRLVAFSSGVENPHGVWAVTRGRRCALALWHTWAPEHREQ
                     EWIEAKELLQESQEEEEEEEEEMPSKDPSPEPPSRRHQRVQDKTGRAPRVREEL"
     exon            533..685
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            686..887
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            888..1019
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1020..1156
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1246
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1247..1299
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1300..1367
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1368..1492
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1594
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1595..1745
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1746..1863
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1939
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1940..2080
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     exon            2081..2631
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2608..2613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /note="hexamer: AATAAA"
     polyA_site      2631
                     /gene="P3H3"
                     /gene_synonym="GRCB; HSU47926; LEPREL2"
                     /note="major polyA site"
ORIGIN      
        1 gcatttcccc tcggctgccg gcggctccga catcatgctc cggctcctcc ggccgctgct
       61 gctactgctg ctgctgcctc ccccggggtc ccctgagccc cccggcctga cccagctgtc
      121 cccgggggcg cccccgcagg cccccgactt gctctacgct gacgggctgc gcgcctacgc
      181 ggccggggct tgggcgccgg ccgtggcgct gctgcgggag gcgctgcgga gccaggcggc
      241 gctgggccgg gtgcggctgg attgcggggc gagctgcgcg gccgatccgg gcgccgcgct
      301 ccccgccgtg cttctcgggg ccccggagcc cgactccggg ccgggaccca cgcaggggtc
      361 ctgggagcga cagcttctcc gtgcagcgct ccgccgcgca gactgcctga cccagtgcgc
      421 agcacggagg ctgggccccg ggggcgcggc gcggcttcgc gtggggagcg cgctccggga
      481 cgccttccgc cgtcgggagc cctacaacta cctgcagagg gcctattacc agttgaagaa
      541 gctggatctg gcagctgcgg cagcacacac cttctttgta gcaaacccca tgcacctgca
      601 gatgcgggag gacatggcta agtacagacg aatgtcggga gttcggcccc agagcttccg
      661 ggacctggag acgcccccac actgggcagc ctatgacact ggcctggagc tactggggcg
      721 ccaggaggca ggactggcac tgcccaggct agaggaggct cttcagggga gcctggccca
      781 gatggagagc tgccgtgctg actgtgaggg gcctgaggag cagcaggggg ctgaagaaga
      841 ggaggatggg gctgcgagcc aggggggcct ctatgaggcc attgcaggac actggattca
      901 ggtcctgcag tgccggcaac gctgtgtggg ggaaacagcc acacgccctg gtcgcagctt
      961 ccctgtccca gacttccttc ccaaccagct gaggcggcta catgaggccc atgctcaggt
     1021 gggcaatctg tcccaggcta tagaaaatgt cctgagtgtc ctgctcttct acccggagga
     1081 tgaggctgcc aagagggctc tgaaccagta ccaggcccag ctgggagagc cgagacctgg
     1141 cctcggaccc agagaggaca tccagcgctt catcctccga tccctggggg agaagaggca
     1201 gctctactat gccatggagc acctggggac cagcttcaag gatcctgacc cctggacccc
     1261 tgcagctctc atccctgagg cacttagaga aaagctcaga gaggatcaag agaagaggcc
     1321 ttgggaccat gagcccgtga agccaaagcc cttgacctac tggaaggatg tccttctcct
     1381 ggagggtgtg accttgaccc aggattccag gcagctgaat gggtcggagc gggcggtgtt
     1441 ggatgggctg ctcaccccag ccgagtgtgg ggtgctgctg cagctggcta aggatgcagc
     1501 tggggctgga gccaggtctg gctatcgtgg tcgccgctcc cctcacaccc cccatgaacg
     1561 cttcgagggg ctcacggtgc ttaaggctgc gcagctggcc cgggctggga cagtgggcag
     1621 tcagggtgct aagctgcttc tggaggtgag cgagcgggtg cggaccttga cccaggccta
     1681 cttctccccg gaacggcccc tgcatctgtc cttcacccac ctggtgtgcc gcagcgccat
     1741 agaaggagag caagagcagc gcatggacct gagtcaccca gtgcacgcag acaactgcgt
     1801 cctggaccct gacacgggag agtgctggcg ggagccccca gcctacacct atcgggacta
     1861 cagcggactc ctctacctca acgatgactt ccagggtggg gacctgttct tcacggagcc
     1921 caacgccctc actgtcacgg ctcgggtgcg tcctcgctgt gggcgccttg tggccttcag
     1981 ctccggtgtc gagaatcccc atggggtgtg ggccgtgact cggggacggc gctgtgccct
     2041 ggcactgtgg cacacgtggg cacctgagca cagggagcag gagtggatag aagccaaaga
     2101 actgctgcag gagtcacagg aggaggagga agaggaagag gaagaaatgc ccagcaaaga
     2161 cccttcccca gagcccccta gccgcaggca ccagagggtc caagacaaga ctggaagggc
     2221 acctcgggtt cgggaggagc tgtgagtggc tgagccagct ccttgaggat gtggccactt
     2281 gacttgtgga aggccatctt gatgccagga cacacaggaa gcccctgtgt gacatcagga
     2341 gcagaacagc aagctctctg tccctgcacc cccaccatct tggggaccta caagggcctg
     2401 gactcagagg acagtgcaca ggctagcctg gagctcacca ggcctgggga gctgggacgg
     2461 ggccccgctg ccggacctgc agccctggac agatggggaa cactgtgcct ccctgaacag
     2521 aaatggcagg ggaggaggct gatgctttaa atgaagagga tggtggggtt gggaggtata
     2581 accctgctcc tctctcccag tctgtgcaat aaaggtcgtg aagatctctc a
//
