LOCUS       NM_013534               2815 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus prolyl 3-hydroxylase 3 (P3h3), transcript variant 1,
            mRNA.
ACCESSION   NM_013534 XM_985002 XM_985033 XM_985066
VERSION     NM_013534.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2815)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 2815)
  AUTHORS   Ishikawa,Y., Taga,Y., Zientek,K., Mizuno,N., Salo,A.M.,
            Semenova,O., Tufa,S.F., Keene,D.R., Holden,P., Mizuno,K.,
            Gould,D.B., Myllyharju,J. and Bachinger,H.P.
  TITLE     Type I and type V procollagen triple helix uses different subsets
            of the molecular ensemble for lysine posttranslational
            modifications in the rER
  JOURNAL   J Biol Chem 296, 100453 (2021)
   PUBMED   33631195
  REMARK    GeneRIF: Type I and type V procollagen triple helix uses different
            subsets of the molecular ensemble for lysine posttranslational
            modifications in the rER.
REFERENCE   3  (bases 1 to 2815)
  AUTHORS   Hudson,D.M., Weis,M., Rai,J., Joeng,K.S., Dimori,M., Lee,B.H.,
            Morello,R. and Eyre,D.R.
  TITLE     P3h3-null and Sc65-null Mice Phenocopy the Collagen Lysine
            Under-hydroxylation and Cross-linking Abnormality of Ehlers-Danlos
            Syndrome Type VIA
  JOURNAL   J Biol Chem 292 (9), 3877-3887 (2017)
   PUBMED   28115524
  REMARK    GeneRIF: both P3h3- and Sc65-null mice displayed a similar pattern
            of severe under-hydroxylation of lysines, particularly at
            cross-linking sites in type I collagen from bone, skin, dentin,
            cornea, and aorta, revealing a complex evolution and interplay
            between the proteins forming the machinery of collagen prolyl
            3-hydroxylation and lysyl hydroxylation in the ER
REFERENCE   4  (bases 1 to 2815)
  AUTHORS   Heard,M.E., Besio,R., Weis,M., Rai,J., Hudson,D.M., Dimori,M.,
            Zimmerman,S.M., Kamykowski,J.A., Hogue,W.R., Swain,F.L.,
            Burdine,M.S., Mackintosh,S.G., Tackett,A.J., Suva,L.J., Eyre,D.R.
            and Morello,R.
  TITLE     Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum
            Complex Regulating Collagen Lysyl Hydroxylation
  JOURNAL   PLoS Genet 12 (4), e1006002 (2016)
   PUBMED   27119146
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2815)
  AUTHORS   Vranka,J., Stadler,H.S. and Bachinger,H.P.
  TITLE     Expression of prolyl 3-hydroxylase genes in embryonic and adult
            mouse tissues
  JOURNAL   Cell Struct Funct 34 (2), 97-104 (2009)
   PUBMED   19652424
  REMARK    GeneRIF: This report characterizes expression of the P3H1, P3H2 and
            P3H3 genes in embryonic and adult mice.
REFERENCE   6  (bases 1 to 2815)
  AUTHORS   Capellini,T.D., Dunn,M.P., Passamaneck,Y.J., Selleri,L. and Di
            Gregorio,A.
  TITLE     Conservation of notochord gene expression across chordates:
            insights from the Leprecan gene family
  JOURNAL   Genesis 46 (11), 683-696 (2008)
   PUBMED   18798549
  REMARK    GeneRIF: Study found that all 3 mouse Leprecan genes Lepre1,
            leprel1 and leprel2 are expressed in the notochord; additionally,
            they are expressed in dorsal root ganglia, limb buds, branchial
            arches, and developing kidneys.
REFERENCE   7  (bases 1 to 2815)
  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 2815)
  AUTHORS   Jarnum,S., Kjellman,C., Darabi,A., Nilsson,I., Edvardsen,K. and
            Aman,P.
  TITLE     LEPREL1, a novel ER and Golgi resident member of the Leprecan
            family
  JOURNAL   Biochem Biophys Res Commun 317 (2), 342-351 (2004)
   PUBMED   15063763
REFERENCE   9  (bases 1 to 2815)
  AUTHORS   Ansari-Lari,M.A., Oeltjen,J.C., Schwartz,S., Zhang,Z., Muzny,D.M.,
            Lu,J., Gorrell,J.H., Chinault,A.C., Belmont,J.W., Miller,W. and
            Gibbs,R.A.
  TITLE     Comparative sequence analysis of a gene-rich cluster at human
            chromosome 12p13 and its syntenic region in mouse chromosome 6
  JOURNAL   Genome Res 8 (1), 29-40 (1998)
   PUBMED   9445485
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC142254.4.
            
            On May 29, 2018 this sequence version replaced NM_013534.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ441086.1, BC003726.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-522               AC142254.4         76327-76848
            523-675             AC142254.4         77948-78100
            676-871             AC142254.4         78768-78963
            872-1003            AC142254.4         79065-79196
            1004-1140           AC142254.4         79597-79733
            1141-1230           AC142254.4         80904-80993
            1231-1283           AC142254.4         82913-82965
            1284-1351           AC142254.4         83059-83126
            1352-1476           AC142254.4         83294-83418
            1477-1578           AC142254.4         88001-88102
            1579-1729           AC142254.4         88386-88536
            1730-1847           AC142254.4         88725-88842
            1848-1923           AC142254.4         88953-89028
            1924-2064           AC142254.4         91832-91972
            2065-2815           AC142254.4         92205-92955
FEATURES             Location/Qualifiers
     source          1..2815
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="6"
                     /map="6 59.17 cM"
     gene            1..2815
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /note="prolyl 3-hydroxylase 3"
                     /db_xref="GeneID:14789"
                     /db_xref="MGI:MGI:1315208"
     exon            1..522
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2229
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /EC_number="1.14.11.7"
                     /note="gene rich cluster, B; protein B; leprecan-like
                     protein 2"
                     /codon_start=1
                     /product="prolyl 3-hydroxylase 3 precursor"
                     /protein_id="NP_038562.2"
                     /db_xref="CCDS:CCDS20533.1"
                     /db_xref="GeneID:14789"
                     /db_xref="MGI:MGI:1315208"
                     /translation="MLRLLRLLLLLLLPPPGSPEPPEPPGLAQLSPGSPPQAPDLLYA
                     DGLRAYSAGAWAPAVALLREALRSRAALGRARQECGASCAAEPGAALPSQLLGAPHPV
                     SGPGVWEPLLLRATLRRAECLTQCAVRRLGPGGAARLRVGSALRDAFRRREPYNYLQR
                     AYYQLKKLDLAASAAHTFFVANPTHLQMREDMAKYRRMSAIRPQSFRDLVTPLYWAAY
                     DTGLELLEQREAALALPQLEEALQGSLAHMESCRAACEGPEEHQGAEEEGEGSQGGLY
                     EAIAGHWIRVLQCRQHCVADTATRPGRSFPVQDFLLSQLRRLHEAYAQVGNMSQAMEN
                     VLSVLLFYPEDEAAKKALNQYQTQLGEPRPDLGPREDIQRFILRSLGEKRQLYYAMEH
                     LGTSFKDPDSWTPEALIPKALRERLREDQEKKPWDHQPPQQKPLAHWKDALLMEGVTL
                     TQDAQQLNGSERAVLDGLLTSAECGVLLQLAKDAAQAGARSGYRGRRSPHSPHERFEG
                     LTVLKAAQLARAGTVGRPGAKLLLEVSERVRTLTQAYFSPERPLHLSFTHLVCRSAIE
                     GEQEQRMDLSHPVHADNCVLDPDTGECWREPPAYTYRDYSGLLYLNDDFKGGDLFFTQ
                     PNALTVTAQVRPRCGRLVAFSSGGENPHGVWAVTRGRRCALALWHTWAPEHSEQEWTE
                     AKELLQEEEEEEEEEDILSRDPSPEPPSHKLQRVQEKAGKPRRVRVREEL"
     exon            523..675
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            676..871
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1003
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1004..1140
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1141..1230
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1283
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1284..1351
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1476
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1477..1578
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1729
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..1847
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..1923
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            1924..2064
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2815
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2784..2789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /note="hexamer: AATAAA"
     regulatory      2788..2793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /note="hexamer: AATAAT"
     polyA_site      2810
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
                     /note="major polyA site"
     polyA_site      2815
                     /gene="P3h3"
                     /gene_synonym="Grcb; Leprel2"
ORIGIN      
        1 cttcggcggt gggcccgcga ctctggcacc atgctccggc tcctgcggtt gttgcttttg
       61 ctgctgctgc ctcccccggg gtcccccgag cctcccgagc ccccgggcct ggctcagttg
      121 tcaccggggt cgcctcccca ggcccccgac ttgctctacg cggacgggct gcgagcctac
      181 tcggccgggg cttgggcgcc cgcagtggcg ctgctgcgag aggcgctgcg gagccgggcg
      241 gcgctgggcc gcgcgcgcca ggagtgcggg gcgagctgcg cggccgagcc gggcgccgcg
      301 ctcccctccc agctcctcgg agccccacat cctgtctccg ggcccggggt ctgggaaccg
      361 ctgctcctgc gcgccacgct ccgccgcgcc gagtgcctga cccagtgcgc ggtgcggagg
      421 ctgggcccgg ggggcgcggc gcggctccgc gtggggagcg cgctgcggga tgccttccgc
      481 cggcgggagc cttacaacta cctgcagagg gcctactacc agttgaagaa gctggacctg
      541 gcagcttctg cagcacacac cttctttgtg gcaaacccaa cacacctgca gatgcgggaa
      601 gacatggcta agtacagaag gatgtctgca atccgacccc agagcttccg ggacctggtg
      661 acgcccctat actgggcagc ttatgacact ggcctggagc ttctggagca acgggaggca
      721 gcactggctc taccccaact agaggaggcc ctgcagggga gcctggccca catggagagc
      781 tgccgtgctg cctgtgaggg gcctgaggag caccaagggg ctgaagaaga gggagaaggg
      841 agccagggag gcctgtatga agccattgca ggacactgga tacgggttct gcagtgcagg
      901 cagcactgtg tggcagacac ggccacccgt cctggtcgca gcttccctgt ccaggacttc
      961 ctcctcagcc agctgagacg gctgcacgag gcgtatgctc aggtggggaa catgtctcag
     1021 gccatggaaa atgtcctgag tgtcctgctc ttctacccag aggatgaggc tgccaaaaag
     1081 gctctgaacc agtaccaaac tcagttggga gagccaagac ctgacctggg accacgagag
     1141 gacatccagc ggttcatcct tcgctccctc ggagagaaga gacagttata ttacgccatg
     1201 gagcatctgg gcactagctt caaggacccg gattcttgga ccccggaggc tctcatccct
     1261 aaggcactga gagagaggct cagagaggat caagagaaga agccctggga ccatcagcct
     1321 ccacagcaga agcccttggc tcactggaag gatgcccttc tgatggaggg tgtgaccctc
     1381 acgcaggacg cccagcagct gaatgggtcg gagcgagctg tcttagatgg gctgctaact
     1441 tcagccgagt gtggggttct gctgcagctg gccaaggatg cagcacaggc tggagccagg
     1501 tcaggctacc gtggccgccg ctctcctcat agtcctcatg aacgctttga ggggctcacg
     1561 gtgctcaagg ctgctcagct ggcccgggca gggactgtgg gcaggccagg cgctaagctg
     1621 cttctggagg taagtgagcg agtgcggact ttgacccagg cctacttctc cccggaacgg
     1681 ccactgcatc tttccttcac ccacctggtg tgccgaagtg ccatagaagg tgaacaagag
     1741 cagcgtatgg acctgagtca cccggttcat gcagacaact gtgtcctgga ccccgacact
     1801 ggcgaatgct ggcgggagcc cccagcctac acctatcgag actatagtgg actcctctac
     1861 ctcaatgatg acttcaaggg aggcgacctg ttcttcacgc agcccaacgc cctcactgtc
     1921 acggctcagg tccgtcctcg gtgtgggcgc cttgtggcct tcagctctgg tggtgagaat
     1981 ccccatggtg tatgggctgt gactcgggga cggcgctgtg ccctagcact gtggcacacg
     2041 tgggcacctg agcacagtga acaggagtgg acagaagcca aagagctgct gcaggaggaa
     2101 gaggaggaag aagaggagga agacattctc agcagagacc cttccccaga acccccaagt
     2161 cacaagcttc agcgagtcca ggagaaagct gggaagcccc gccgggtccg ggtccgagag
     2221 gaactgtgaa tggctgagcc tgcttctcag gatcaggcca ctcaacttgg gaaggaactg
     2281 atgagaaggc tctggaggat atcaggaaca tagtagcatg ccaagtctac catctcgggg
     2341 acttacaagg gctaccagac cctggactca caagcttgct acacagactt agcctacagc
     2401 acatcaggcc cgggagccag gtctggcccc agctgaggga cctgcaaggt ccccaggaca
     2461 gacaaaaatc actatgcctc cctgaaaggc aggcatgtgg aggagtgcag agcaactgct
     2521 tctaataaga aacacacaga ggggctggag agatggctca gcggttaaga gcactgactg
     2581 ctcttctgag gtccagagtt caaatcccag caaccacatg gtggctcaca accatccgta
     2641 atgagatctg gcgccctctt ctggggcgtc tgaggacagc aacagtgtac ttacatataa
     2701 taaataaata aatctttaaa aaaagaaaaa gaaaagaaaa gaaacacaca gaggagacag
     2761 tcccatcctc tcccaacctg tgcaataaat aatgatcatg aggctctcca gccaa
//
