LOCUS       NM_173379               3316 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus prolyl 3-hydroxylase 2 (P3h2), mRNA.
ACCESSION   NM_173379 XM_358829
VERSION     NM_173379.3
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 3316)
  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 3316)
  AUTHORS   Aypek,H., Krisp,C., Lu,S., Liu,S., Kylies,D., Kretz,O., Wu,G.,
            Moritz,M., Amann,K., Benz,K., Tong,P., Hu,Z.M., Alsulaiman,S.M.,
            Khan,A.O., Grohmann,M., Wagner,T., Muller-Deile,J., Schluter,H.,
            Puelles,V.G., Bergmann,C., Huber,T.B. and Grahammer,F.
  TITLE     Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin
            basement membrane nephropathy
  JOURNAL   J Clin Invest 132 (9) (2022)
   PUBMED   35499085
REFERENCE   3  (bases 1 to 3316)
  AUTHORS   Pignata,P., Apicella,I., Cicatiello,V., Puglisi,C., Magliacane
            Trotta,S., Sanges,R., Tarallo,V. and De Falco,S.
  TITLE     Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis
  JOURNAL   Int J Mol Sci 22 (8), 3896 (2021)
   PUBMED   33918807
  REMARK    GeneRIF: Prolyl 3-Hydroxylase 2 Is a Molecular Player of
            Angiogenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3316)
  AUTHORS   Hudson,D.M., Joeng,K.S., Werther,R., Rajagopal,A., Weis,M.,
            Lee,B.H. and Eyre,D.R.
  TITLE     Post-translationally abnormal collagens of prolyl 3-hydroxylase-2
            null mice offer a pathobiological mechanism for the high myopia
            linked to human LEPREL1 mutations
  JOURNAL   J Biol Chem 290 (13), 8613-8622 (2015)
   PUBMED   25645914
  REMARK    GeneRIF: Altered collagen prolyl 3-hydroxylation is caused by loss
            of P3H2.
REFERENCE   5  (bases 1 to 3316)
  AUTHORS   Pokidysheva,E., Boudko,S., Vranka,J., Zientek,K., Maddox,K.,
            Moser,M., Fassler,R., Ware,J. and Bachinger,H.P.
  TITLE     Biological role of prolyl 3-hydroxylation in type IV collagen
  JOURNAL   Proc Natl Acad Sci U S A 111 (1), 161-166 (2014)
   PUBMED   24368846
  REMARK    GeneRIF: prolyl 3-hydroxylation of type IV collagen by P3H2 has an
            important function preventing maternal platelet aggregation in
            response to the early developing embryo
REFERENCE   6  (bases 1 to 3316)
  AUTHORS   Fernandes,R.J., Farnand,A.W., Traeger,G.R., Weis,M.A. and Eyre,D.R.
  TITLE     A role for prolyl 3-hydroxylase 2 in post-translational
            modification of fibril-forming collagens
  JOURNAL   J Biol Chem 286 (35), 30662-30669 (2011)
   PUBMED   21757687
REFERENCE   7  (bases 1 to 3316)
  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   8  (bases 1 to 3316)
  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   9  (bases 1 to 3316)
  AUTHORS   Tiainen,P., Pasanen,A., Sormunen,R. and Myllyharju,J.
  TITLE     Characterization of recombinant human prolyl 3-hydroxylase
            isoenzyme 2, an enzyme modifying the basement membrane collagen IV
  JOURNAL   J Biol Chem 283 (28), 19432-19439 (2008)
   PUBMED   18487197
  REMARK    GeneRIF: P3H2 is responsible for the hydroxylation of collagen IV,
            which has the highest 3-hydroxyproline content of all collagens. It
            is thus possible that P3H2 mutations may lead to a disease with
            changes in basement membranes.
REFERENCE   10 (bases 1 to 3316)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC154344.1 and AC109213.6.
            
            On Apr 20, 2018 this sequence version replaced NM_173379.2.
            
            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.
            
            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 :: AJ430350.1, SRR7974084.5190.1
                                           [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
            1-598               AC154344.1         75745-76342         c
            599-748             AC109213.6         185778-185927       c
            749-938             AC109213.6         181298-181487       c
            939-1070            AC109213.6         175786-175917       c
            1071-1213           AC109213.6         173566-173708       c
            1214-1303           AC109213.6         173136-173225       c
            1304-1344           AC109213.6         171327-171367       c
            1345-1439           AC109213.6         169767-169861       c
            1440-1567           AC109213.6         160912-161039       c
            1568-1663           AC109213.6         160237-160332       c
            1664-1814           AC109213.6         159466-159616       c
            1815-1932           AC109213.6         158538-158655       c
            1933-2008           AC109213.6         157363-157438       c
            2009-2149           AC109213.6         154358-154498       c
            2150-3316           AC109213.6         147918-149084       c
FEATURES             Location/Qualifiers
     source          1..3316
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="16"
                     /map="16 17.63 cM"
     gene            1..3316
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /note="prolyl 3-hydroxylase 2"
                     /db_xref="GeneID:210530"
                     /db_xref="MGI:MGI:2146663"
     exon            1..598
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..2242
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /EC_number="1.14.11.7"
                     /note="leprecan-like protein 1; myxoid liposarcoma
                     associated protein 4"
                     /codon_start=1
                     /product="prolyl 3-hydroxylase 2 precursor"
                     /protein_id="NP_775555.1"
                     /db_xref="CCDS:CCDS28086.1"
                     /db_xref="GeneID:210530"
                     /db_xref="MGI:MGI:2146663"
                     /translation="MRESTWVSLLLLLLLPTPQRGGPQDGRRSPEPEPERGPLQPFDL
                     LYASGVAAYYSGDYERAVRDLEAALSSHRRLRDIRTRCARHCAARRPLAPPGAGPGAE
                     LPFFRAVLERARCSRSCQSQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIKLNQL
                     EKAMEAAHTFFMANPEHMEMQQDLEDYKATARVEAPLLDREAKPHLESYNAGVKHYEA
                     DDFESAIKYFEQALREYFNEDMECRALCEGPQRFEEYEYLGYKGGLYEAIADHYMQVL
                     VCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLMFHPDN
                     EDVLDNVDFYESLLDDSTDPASIEAREDLTAFVKRHKLEAELIKLAAEGLGFSYAEPN
                     YWISYGGRQDENRVPSGVNMDGAEVHGLSMGKKSPPKIGRDLREGGPLLYENITFVYN
                     SEQLNGTQRVLLDNVLSQEQCRELHSVANGIMLVGDGYRGKTSPHTPNEKFEGATVLK
                     ALKFGYEGRVPLKSARLFYDISEKARKIVESYFMLNSTLYFSYTHMVCRTALSGQQDR
                     RNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFDGGEFIFTEMDAKT
                     VTASIKPKCGRMISFSSGGENPHGVKAVTRGQRCAVALWFTLDPLYRELERIQADEVI
                     AILDQEQRGKHGLNINPKDEL"
     exon            599..748
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            749..938
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1070
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1071..1213
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1303
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1304..1344
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1345..1439
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1567
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1663
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1664..1814
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1815..1932
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            1933..2008
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2149
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     exon            2150..3316
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3293..3298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /note="hexamer: AATAAA"
     polyA_site      3316
                     /gene="P3h2"
                     /gene_synonym="4832416N06; Leprel1; Mlat4"
                     /note="major polyA site"
ORIGIN      
        1 ggggctgtcg cgcagcggga tcacggcagg atcggctcgc tagccctcgg agttggagcg
       61 gggctcgaac gtgagttgcg gtggggcagg caagaagcgc gacgatctcc ctccacgggt
      121 ccggcggagg atgcgggaga gcacgtgggt gtcgctgctg ttgctgctac tgctgcccac
      181 accgcagcgg ggcggccccc aggacggtcg ccggtccccg gagccagagc ccgagcgcgg
      241 cccgctgcag cccttcgacc tgctctacgc cagcggcgtg gctgcctact acagcggcga
      301 ctatgagcga gcggtgcggg acctggaagc cgccctgagc agtcaccggc gcctacggga
      361 catccgcacg cgctgcgccc gccactgcgc ggcgcgccgt ccgctcgcgc cccccggcgc
      421 cggccccgga gccgagctgc ccttcttccg cgcggtgctg gagcgggcgc gctgctcccg
      481 cagctgccag agccagcgcc tgggcggccc cgcgtcccgc caccgcgtca gcgaggacgt
      541 gcgcagcgac ttccaacgca gagttcccta caactacctg cagagggcct acatcaagct
      601 caaccagctg gaaaaggcca tggaagcagc tcacacgttc ttcatggcca accccgagca
      661 catggaaatg cagcaggacc tagaggacta taaagccaca gcacgagtgg aagcccccct
      721 gctagaccgc gaagccaagc cacacctgga aagctataat gctggagtca aacattatga
      781 agctgatgac tttgaatccg caatcaagta ctttgaacaa gctttaagag agtatttcaa
      841 tgaagacatg gagtgccgtg ctctatgtga ggggcctcag agatttgagg aatatgagta
      901 cttagggtat aaaggtggtc tttacgaggc aatcgcagat cactatatgc aggttctggt
      961 ctgtcagcat gaatgtgtga gggaactcgc cacccgccca ggccgcctct caccaatcga
     1021 gaactttctt cccttgcatt acgactacct ccagtttgcc tactacagag ttggtgaata
     1081 tgtgaaagcc ttggagtgcg ccaaagccta cctgatgttc catccagaca atgaggatgt
     1141 cctggacaat gtagacttct atgagagtct gctggatgac agcactgatc cagcatccat
     1201 tgaggcccgg gaggatttaa cagcatttgt caaacgtcat aaacttgaag ctgaactgat
     1261 caagttagct gcagagggcc tgggattttc atatgctgaa ccgaattact ggatcagcta
     1321 tggaggacgg caggatgaga accgagtccc ttcaggagtg aatatggatg gggcagaagt
     1381 tcatggattg tcaatgggaa agaagtcacc gcccaagata ggtcgagacc taagagaagg
     1441 tggccctctg ctctacgaga acatcacctt cgtctacaac tctgagcagc tgaacgggac
     1501 tcaacgggtt cttctcgata atgtcctgtc gcaagagcag tgtcgggagc tgcacagtgt
     1561 ggccaatgga atcatgctgg ttggtgatgg ataccgaggg aaaacgtcac cccacacacc
     1621 caatgagaag tttgaaggag caactgtttt aaaagcactc aaatttggtt atgaaggccg
     1681 ggtgccactg aagagtgcaa gactgttcta tgacatcagc gagaaggctc ggaagattgt
     1741 ggaatcctat ttcatgctga actcaaccct gtatttttcc tatacacaca tggtctgcag
     1801 aacagccctg tctgggcagc aggatcgaag aaatgacctc agtcacccca ttcatgcaga
     1861 caactgcctg ctggatccag aagccaatga atgctggaag gagcctcccg cttacacctt
     1921 tcgggactac agtgctctcc tgtatatgaa tgacgacttt gacggagggg aattcatctt
     1981 cacagaaatg gatgctaaaa ccgtgactgc ctctataaaa ccaaagtgtg gccgaatgat
     2041 cagcttctcg tctggcggcg agaaccctca tggcgtgaag gcggtcacca gaggccagcg
     2101 ctgtgctgtg gcactatggt ttacactgga ccctctttac cgagaactgg agcggataca
     2161 ggcagatgaa gtgattgcca tcttggatca agaacagcgc gggaagcatg gactgaatat
     2221 taaccccaaa gatgagctat agaaaagaga gtgctctatt gaatatttat ttaaatagat
     2281 gatcttatga gaaccttttt atttttgtac agagccgtag tataaattaa caggatacta
     2341 agagtcgtta gatttctccc cctgttccca acttcgcttc atttgctttc ttctggtctt
     2401 cattgttttg cttcagttca tcattcagag cccattcaca ccctcaagca cacaccgcac
     2461 tgagtcacaa cacccacact cttcatgtca caccagtaaa catgcaacag aatttacact
     2521 acagaagtgc acacaggcca tgtacacatg gcacaaactc ccaaatacgc cacacataca
     2581 taagacaaac ataaacatac agaaacacat accacccaga tacacaaaca ctacatggca
     2641 cacacacaca cacacacaca cacacacaca cacacacaca cacacacaca gttactttgc
     2701 agcatattca gaatatcaac atgatcagcc tgcactcagc accccacagc tagagtgtgc
     2761 cccgaggtct aaagatagga tgtgaattgg tctcaggctt ctatggtttg ctgcctttcc
     2821 cccatcacct ttcatggttc cattggctga gagttcagac tcttcacagc aagtttgcct
     2881 tgtgtctaca ggagctccca ggacacagtc tgccaagtcc caagaatcac agagaacagc
     2941 atctttcagg cttgaggaag ccaccactgg attaaggact atggcacggg gtccccttgg
     3001 gtagaatgtt aggactggtg ttttcaaatg aagttctgat tcccctccac agtgctctgt
     3061 aagaggggac acctaaacag gggttccagc agtgtaggtt cacccccagt ggtgatggaa
     3121 gaatgaatac cttaaattgc cctgccctag gcactattgc tgctggagag gggctcctgc
     3181 tggtataaat tcagagctgt ttctcacagg ctgcacctca atggcttctg ttgggcagcc
     3241 tcctcttcct gctgctgtca gctcacacag gcatgctgtg tctgaagtgt ttaataaagg
     3301 gatccttgtt acagaa
//
