LOCUS       NM_022356               2591 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens prolyl 3-hydroxylase 1 (P3H1), transcript variant 1,
            mRNA.
ACCESSION   NM_022356
VERSION     NM_022356.4
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 2591)
  AUTHORS   Kantaputra,P.N., Angkurawaranon,S., Intachai,W., Ngamphiw,C.,
            Olsen,B., Tongsima,S., Cox,T.C. and Ketudat Cairns,J.R.
  TITLE     A Founder Intronic Variant in P3H1 Likely Results in Aberrant
            Splicing and Protein Truncation in Patients of Karen Descent with
            Osteogenesis Imperfecta Type VIII
  JOURNAL   Genes (Basel) 14 (2), 322 (2023)
   PUBMED   36833249
  REMARK    GeneRIF: A Founder Intronic Variant in P3H1 Likely Results in
            Aberrant Splicing and Protein Truncation in Patients of Karen
            Descent with Osteogenesis Imperfecta Type VIII.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2591)
  AUTHORS   Kang,K.J., Choi,M.J., Min,T.J., You,T.M., Lee,G., Ko,S.Y. and
            Jang,Y.J.
  TITLE     Cell Surface Accumulation of Intracellular Leucine Proline-Enriched
            Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp
            Stem Cells
  JOURNAL   Stem Cells Dev 31 (21-22), 684-695 (2022)
   PUBMED   35859453
  REMARK    GeneRIF: Cell Surface Accumulation of Intracellular Leucine
            Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of
            Human Dental Pulp Stem Cells.
REFERENCE   3  (bases 1 to 2591)
  AUTHORS   Zhytnik,L., Duy,B.H., Eekhoff,M., Wisse,L., Pals,G., Reimann,E.,
            Koks,S., Martson,A., Maugeri,A., Maasalu,K. and Micha,D.
  TITLE     Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients
            Sharing a Recessive P3H1 Pathogenic Variant
  JOURNAL   Genes (Basel) 13 (3), 407 (2022)
   PUBMED   35327962
  REMARK    GeneRIF: Phenotypic Variation in Vietnamese Osteogenesis Imperfecta
            Patients Sharing a Recessive P3H1 Pathogenic Variant.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2591)
  AUTHORS   Lee,A.R., Lee,S., Shin,J.Y., Kim,J.Y., Moon,K.S. and Jung,J.
  TITLE     Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by
            regulating ABCG2 expression and tumor transition states in human
            leukemia and lung cancer
  JOURNAL   Sci Rep 12 (1), 2928 (2022)
   PUBMED   35190588
  REMARK    GeneRIF: Biomarker LEPRE1 induces pelitinib-specific drug
            responsiveness by regulating ABCG2 expression and tumor transition
            states in human leukemia and lung cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2591)
  AUTHORS   Nadyrshina,D., Zaripova,A., Tyurin,A., Minniakhmetov,I.,
            Zakharova,E. and Khusainova,R.
  TITLE     Osteogenesis Imperfecta: Search for Mutations in Patients from the
            Republic of Bashkortostan (Russia)
  JOURNAL   Genes (Basel) 13 (1), 124 (2022)
   PUBMED   35052464
  REMARK    GeneRIF: Osteogenesis Imperfecta: Search for Mutations in Patients
            from the Republic of Bashkortostan (Russia).
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2591)
  AUTHORS   Willaert,A., Malfait,F., Symoens,S., Gevaert,K., Kayserili,H.,
            Megarbane,A., Mortier,G., Leroy,J.G., Coucke,P.J. and De Paepe,A.
  TITLE     Recessive osteogenesis imperfecta caused by LEPRE1 mutations:
            clinical documentation and identification of the splice form
            responsible for prolyl 3-hydroxylation
  JOURNAL   J Med Genet 46 (4), 233-241 (2009)
   PUBMED   19088120
  REMARK    GeneRIF: Findings suggest that the 3-hydroxylation function of P3H1
            is restricted to the 736AA splice form.
REFERENCE   7  (bases 1 to 2591)
  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 2591)
  AUTHORS   Kaul,S.C., Sugihara,T., Yoshida,A., Nomura,H. and Wadhwa,R.
  TITLE     Gros1, a potential growth suppressor on chromosome 1: its identity
            to basement membrane-associated proteoglycan, leprecan
  JOURNAL   Oncogene 19 (32), 3576-3583 (2000)
   PUBMED   10951563
REFERENCE   9  (bases 1 to 2591)
  AUTHORS   Wassenhove-McCarthy,D.J. and McCarthy,K.J.
  TITLE     Molecular characterization of a novel basement membrane-associated
            proteoglycan, leprecan
  JOURNAL   J Biol Chem 274 (35), 25004-25017 (1999)
   PUBMED   10455179
REFERENCE   10 (bases 1 to 2591)
  AUTHORS   Valent,M., Janoska,A., Catar,G. and Scholz,W.
  TITLE     [Treatment of trichomoniasis with a single dose of Metronidazol
            SPOFA (author's transl)]
  JOURNAL   Bratisl Lek Listy 63 (6), 680-683 (1975)
   PUBMED   1095156
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC098484.2, AK027697.1 and
            R67284.1.
            
            On Aug 31, 2019 this sequence version replaced NM_022356.3.
            
            Summary: This gene encodes an enzyme that is a member of the
            collagen prolyl hydroxylase family. These enzymes are localized to
            the endoplasmic reticulum and their activity is required for proper
            collagen synthesis and assembly. Mutations in this gene are
            associated with osteogenesis imperfecta type VIII. Three
            alternatively spliced transcript variants encoding different
            isoforms have been described. Other variants may exist, but their
            biological validity has not been determined. [provided by RefSeq,
            Aug 2011].
            
            Transcript Variant: This variant (1) differs in the 3' UTR and
            coding sequence compared to variant 3. The resulting isoform (1)
            has a shorter and distinct C-terminus compared to isoform 3.
            
            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 :: BC004160.2, AF097432.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296388.10/ ENSP00000296388.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AC098484.2         115002-115006       c
            6-2524              AK027697.1         1-2519
            2525-2525           AC098484.2         94418-94418         c
            2526-2590           AK027697.1         2521-2585
            2591-2591           R67284.1           50-50               c
FEATURES             Location/Qualifiers
     source          1..2591
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2591
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /note="prolyl 3-hydroxylase 1"
                     /db_xref="GeneID:64175"
                     /db_xref="HGNC:HGNC:19316"
                     /db_xref="MIM:610339"
     exon            1..522
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..2268
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /EC_number="1.14.11.7"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; growth suppressor 1; leprecan; leucine- and
                     proline-enriched proteoglycan 1; leucine proline-enriched
                     proteoglycan (leprecan) 1; procollagen-proline
                     3-dioxygenase"
                     /codon_start=1
                     /product="prolyl 3-hydroxylase 1 isoform 1 precursor"
                     /protein_id="NP_071751.3"
                     /db_xref="CCDS:CCDS472.2"
                     /db_xref="GeneID:64175"
                     /db_xref="HGNC:HGNC:19316"
                     /db_xref="MIM:610339"
                     /translation="MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTA
                     AYARGDWPGVVLSMERALRSRAALRALRLRCRTQCAADFPWELDPDWSPSPAQASGAA
                     ALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEFRKRSPYNYLQVAYFKINKLE
                     KAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSE
                     EQPQEAVPHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVL
                     NCKQNCVTELASHPSREKPFEDFLPSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPND
                     EVMNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDS
                     WTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGG
                     PLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHT
                     PNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHL
                     VCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDG
                     GNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRH
                     SERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL"
     exon            523..675
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            676..865
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            866..997
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            998..1137
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1227
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1228..1280
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1281..1402
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1403..1530
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1626
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1627..1777
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1895
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..1971
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            1972..2112
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     exon            2113..2591
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2567..2572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /note="hexamer: AATAAA"
     polyA_site      2591
                     /gene="P3H1"
                     /gene_synonym="GROS1; LEPRE1; OI8"
                     /note="major polyA site"
ORIGIN      
        1 gtaggactcc ggccttggtg gcgggtggct ggcggttccg ttaggtctga gggagcgatg
       61 gcggtacgcg cgttgaagct gctgaccaca ctgctggctg tcgtggccgc tgcctcccaa
      121 gccgaggtcg agtccgaggc aggatggggc atggtgacgc ctgatctgct cttcgccgag
      181 gggaccgcag cctacgcgcg cggggactgg cccggggtgg tcctgagcat ggaacgggcg
      241 ctgcgctccc gggcagccct ccgcgccctt cgcctgcgct gccgcaccca gtgtgccgcc
      301 gacttcccgt gggagctgga ccccgactgg tcccccagcc cggcccaggc ctcgggcgcc
      361 gccgccctgc gcgacctgag cttcttcggg ggccttctgc gtcgcgctgc ctgcctgcgc
      421 cgctgcctcg ggccgccggc cgcccactcg ctcagcgaag agatggagct ggagttccgc
      481 aagcggagcc cctacaacta cctgcaggtc gcctacttca agatcaacaa gttggagaaa
      541 gctgttgctg cagcacacac cttcttcgtg ggcaatcctg agcacatgga aatgcagcag
      601 aacctagact attaccaaac catgtctgga gtgaaggagg ccgacttcaa ggatcttgag
      661 actcaacccc atatgcaaga atttcgactg ggagtgcgac tctactcaga ggaacagcca
      721 caggaagctg tgccccacct agaggcggcg ctgcaagaat actttgtggc ctatgaggag
      781 tgccgtgccc tctgcgaagg gccctatgac tacgatggct acaactacct tgagtacaac
      841 gctgacctct tccaggccat cacagatcat tacatccagg tcctcaactg taagcagaac
      901 tgtgtcacgg agcttgcttc ccacccaagt cgagagaagc cctttgaaga cttcctccca
      961 tcgcattata attatctgca gtttgcctac tataacattg ggaattatac acaggctgtt
     1021 gaatgtgcca agacctatct tctcttcttc cccaatgacg aggtgatgaa ccaaaatttg
     1081 gcctattatg cagctatgct tggagaagaa cacaccagat ccatcggccc ccgtgagagt
     1141 gccaaggagt accgacagcg aagcctactg gaaaaagaac tgcttttctt cgcttatgat
     1201 gtttttggaa ttccctttgt ggatccggat tcatggactc cagaagaagt gattcccaag
     1261 agattgcaag agaaacagaa gtcagaacgg gaaacagccg tacgcatctc ccaggagatt
     1321 gggaacctta tgaaggaaat cgagaccctt gtggaagaga agaccaagga gtcactggat
     1381 gtgagcagac tgacccggga aggtggcccc ctgctgtatg aaggcatcag tctcaccatg
     1441 aactccaaac tcctgaatgg ttcccagcgg gtggtgatgg acggcgtaat ctctgaccac
     1501 gagtgtcagg agctgcagag actgaccaat gtggcagcaa cctcaggaga tggctaccgg
     1561 ggtcagacct ccccacatac tcccaatgaa aagttctatg gtgtcactgt cttcaaagcc
     1621 ctcaagctgg ggcaagaagg caaagttcct ctgcagagtg cccacctgta ctacaacgtg
     1681 acggagaagg tgcggcgcat catggagtcc tacttccgcc tggatacgcc cctctacttt
     1741 tcctactctc atctggtgtg ccgcactgcc atcgaagagg tccaggcaga gaggaaggat
     1801 gatagtcatc cagtccacgt ggacaactgc atcctgaatg ccgagaccct cgtgtgtgtc
     1861 aaagagcccc cagcctacac cttccgcgac tacagcgcca tcctttacct aaatggggac
     1921 ttcgatggcg gaaactttta tttcactgaa ctggatgcca agaccgtgac ggcagaggtg
     1981 cagcctcagt gtggaagagc cgtgggattc tcttcaggca ctgaaaaccc acatggagtg
     2041 aaggctgtca ccagggggca gcgctgtgcc atcgccctgt ggttcaccct ggaccctcga
     2101 cacagcgagc gggacagggt gcaggcagat gacctggtga agatgctctt cagcccagaa
     2161 gagatggacc tctcccagga gcagcccctg gatgcccagc agggcccccc cgaacctgca
     2221 caagagtctc tctcaggcag tgaatcgaag cccaaggatg agctatgaca gcgtccaggt
     2281 cagacggatg ggtgactaga cccatggaga ggaactcttc tgcactctga gctggccagc
     2341 ccctcggggc tgcagagcag tgagcctaca tctgccactc agccgagggg accctgctca
     2401 cagccttcta catggtgcta ctgctcttgg agtggacatg accagacacc gcaccccctg
     2461 gatctggctg agggctcagg acacaggccc agccaccccc aggggcctcc acaggccgct
     2521 gcatgacagc gatacagtac ttaagtgtct gtgtagacaa ccaaagaata aatgattcat
     2581 ggtttttttt a
//
