LOCUS       NM_018192               3477 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens prolyl 3-hydroxylase 2 (P3H2), transcript variant 1,
            mRNA.
ACCESSION   NM_018192
VERSION     NM_018192.4
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 3477)
  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   2  (bases 1 to 3477)
  AUTHORS   Khan,A.O.
  TITLE     Further phenotypic characterization of LEPREL1-related ectopia
            lentis
  JOURNAL   Ophthalmic Genet 40 (1), 80-82 (2019)
   PUBMED   30608193
  REMARK    GeneRIF: Mutation in the LEPREL1 gene is associated with ectopia
            lentis.
REFERENCE   3  (bases 1 to 3477)
  AUTHORS   Dudek,A.M., Vermeulen,S.H., Kolev,D., Grotenhuis,A.J.,
            Kiemeney,L.A.L.M. and Verhaegh,G.W.
  TITLE     Identification of an enhancer region within the TP63/LEPREL1 locus
            containing genetic variants associated with bladder cancer risk
  JOURNAL   Cell Oncol (Dordr) 41 (5), 555-568 (2018)
   PUBMED   29956121
  REMARK    GeneRIF: Data identified an enhancer region within the TP63/LEPREL1
            locus containing genetic variants associated with bladder cancer
            risk.
REFERENCE   4  (bases 1 to 3477)
  AUTHORS   Mordechai,S., Gradstein,L., Pasanen,A., Ofir,R., El Amour,K.,
            Levy,J., Belfair,N., Lifshitz,T., Joshua,S., Narkis,G.,
            Elbedour,K., Myllyharju,J. and Birk,O.S.
  TITLE     High myopia caused by a mutation in LEPREL1, encoding prolyl
            3-hydroxylase 2
  JOURNAL   Am J Hum Genet 89 (3), 438-445 (2011)
   PUBMED   21885030
  REMARK    GeneRIF: High myopia is caused by a mutation in LEPREL1, encoding
            prolyl 3-hydroxylase 2.
REFERENCE   5  (bases 1 to 3477)
  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
  REMARK    GeneRIF: P3H2 has preferred substrate sequences among the classes
            of 3Hyp sites in clade A collagen chains
REFERENCE   6  (bases 1 to 3477)
  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
  REMARK    GeneRIF: The restriction of silencing in P3H2 to breast carcinomas,
            and its association with oestrogen-receptor-positive cases,
            suggests that P3H2 may be a breast-cancer-specific tumour
            suppressor.
REFERENCE   7  (bases 1 to 3477)
  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   8  (bases 1 to 3477)
  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   9  (bases 1 to 3477)
  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   10 (bases 1 to 3477)
  AUTHORS   Thelin-Jarnum,S., Lassen,C., Panagopoulos,I., Mandahl,N. and
            Aman,P.
  TITLE     Identification of genes differentially expressed in TLS-CHOP
            carrying myxoid liposarcomas
  JOURNAL   Int J Cancer 83 (1), 30-33 (1999)
   PUBMED   10449603
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ430351.2, AK125134.1,
            BC005029.1, BU621129.1 and BU737886.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_018192.3.
            
            Summary: This gene encodes a member of the prolyl 3-hydroxylase
            subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes
            play a critical role in collagen chain assembly, stability and
            cross-linking by catalyzing post-translational 3-hydroxylation of
            proline residues. Mutations in this gene are associated with
            nonsyndromic severe myopia with cataract and vitreoretinal
            degeneration, and downregulation of this gene may play a role in
            breast cancer. Alternatively spliced transcript variants encoding
            multiple isoforms have been observed for this gene. [provided by
            RefSeq, Dec 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: AK125134.1, AJ430351.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000319332.10/ ENSP00000316881.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-673               AJ430351.2         33-705
            674-2504            AK125134.1         701-2531
            2505-2757           BC005029.1         1922-2174
            2758-3374           BU621129.1         17-633              c
            3375-3477           BU737886.1         17-119              c
FEATURES             Location/Qualifiers
     source          1..3477
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q28"
     gene            1..3477
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /note="prolyl 3-hydroxylase 2"
                     /db_xref="GeneID:55214"
                     /db_xref="HGNC:HGNC:19317"
                     /db_xref="MIM:610341"
     exon            1..646
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..2293
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /EC_number="1.14.11.7"
                     /note="isoform a precursor is encoded by transcript
                     variant 1; prolyl 3-hydroxylase 3; leprecan-like 1; myxoid
                     liposarcoma-associated protein 4; procollagen-proline
                     3-dioxygenase 2"
                     /codon_start=1
                     /product="prolyl 3-hydroxylase 2 isoform a precursor"
                     /protein_id="NP_060662.2"
                     /db_xref="CCDS:CCDS3294.1"
                     /db_xref="GeneID:55214"
                     /db_xref="HGNC:HGNC:19317"
                     /db_xref="MIM:610341"
                     /translation="MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPF
                     DLLYASGAAAYYSGDYERAVRDLEAALRSHRRLREIRTRCARHCAARHPLPPPPPGEG
                     PGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIK
                     LNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGV
                     KHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADH
                     YMQVLVCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLL
                     CHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFS
                     YTEPNYWIRYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENI
                     TFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVGDGYRGKTSPHTPNEKFEG
                     ATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMVCRTALS
                     GQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTE
                     MDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQ
                     ADEVIAILDQEQQGKHELNINPKDEL"
     exon            647..799
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            800..989
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1121
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1122..1264
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1265..1354
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1395
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1490
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1618
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1714
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1865
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..1983
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2059
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            2060..2200
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     exon            2201..3477
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3352..3357
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /note="hexamer: AATAAA"
     polyA_site      3374
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /note="major polyA site"
     regulatory      3456..3461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /note="hexamer: AATAAA"
     polyA_site      3477
                     /gene="P3H2"
                     /gene_synonym="LEPREL1; MCVD; MLAT4"
                     /note="major polyA site"
ORIGIN      
        1 gcctctcagt acgcggagcg ccggcggtca cctggggctc gcggagcggc cagatcgcgg
       61 cggagtcggc gcgcttcccc gagggaaggt gggagagggg acccggacgc gaggtgcccc
      121 gaagccctct cgagcgtaac cgtcccgcgc ctctctgagg cggaggatgc gggagcgcat
      181 ctgggcgccg ccgctgctgc tgctgctgcc gctgctactg ccgccgccac tgtggggcgg
      241 ccccccggac agcccacgcc gggagctgga gctggagccc gggcctctgc agcccttcga
      301 cctgctctac gccagcggcg cggccgccta ctacagcgga gactacgagc gagcggtgcg
      361 cgacttggaa gcggcgctgc gcagccaccg gcgcctgcgg gaaatccgca cgcgctgtgc
      421 ccgccactgc gcggcgcgcc acccgctccc gcccccgccc cccggcgagg gccccggcgc
      481 tgagctgccc cttttccgct ccttgttggg gcgggcgcgc tgttatcgca gctgtgagac
      541 ccagcgcctc gggggccccg catcccgcca ccgcgtcagc gaggatgtgc gcagcgactt
      601 ccagcgcaga gtgccctaca actacctgca gcgggcctac atcaagctta accagctcga
      661 aaaagcagtg gaagcagctc acacattttt cgtggctaac cctgagcaca tggaaatgca
      721 gcagaacatt gagaattaca gggcgacagc tggtgttgaa gcattgcagt tggtagacag
      781 agaagccaag ccacacatgg agagttacaa tgcaggagtt aaacattatg aggctgatga
      841 ctttgagatg gctatcaggc acttcgaaca agccttaaga gaatatttcg ttgaagatac
      901 agaatgccgg accctatgtg aggggcctca gagatttgaa gaatatgagt atttagggta
      961 taaggctggt ctgtatgaag ctattgcaga tcactacatg caggtgcttg tttgtcagca
     1021 tgaatgtgtg agggaacttg ccacccgccc tggccgcctc tctcccatcg agaattttct
     1081 tcctctgcac tatgattacc tacagtttgc ctactatcga gttggtgagt atgtgaaagc
     1141 cctggagtgt gccaaagcct atcttctatg ccatccagat gatgaggatg tcctagacaa
     1201 tgtggattac tatgagagtc tgctggatga tagcattgac ccggcatcca ttgaggccag
     1261 agaggattta acaatgtttg tgaaacgtca taagctggag tctgagctga taaaatcagc
     1321 tgcagaaggt ctggggtttt catacactga accgaattat tggatcagat atggaggacg
     1381 acaggatgag aatcgggtcc cttcaggagt gaacgtagag ggagcagaag ttcatggatt
     1441 ctcaatggga aaaaagctat cacccaagat agatcgagac ctaagagaag gtggtcctct
     1501 actctatgag aacatcacat tcgtctacaa ctcggagcag ctgaacggga ctcagcgggt
     1561 tctcctggat aacgtcctgt cggaagaaca gtgccgggag ctccacagcg tggccagtgg
     1621 aatcatgctt gttggtgatg gatacagagg aaaaacttca ccccatacac ccaatgaaaa
     1681 gtttgaaggt gcaactgtcc tgaaagcact caaatctggt tatgaaggtc gagtcccact
     1741 gaagagcgct cgtctgtttt atgacatcag cgaaaaggct cgaaggattg tagaatctta
     1801 ttttatgctg aactcaactc tgtatttttc ctatacacac atggtctgcc gaacagccct
     1861 gtctggtcag caggatagaa gaaatgacct cagtcatccc atccatgctg acaactgttt
     1921 gttggatcca gaggccaacg aatgctggaa ggagcctcct gcttacacat ttcgagacta
     1981 tagtgctctc ctatatatga atgatgactt tgaaggagga gaattcatat tcacagagat
     2041 ggatgctaag actgtgactg cctctataaa accaaaatgt gggcgcatga tcagcttctc
     2101 atctggagga gagaaccctc atggggtgaa ggcagtcacc aagggaaaga ggtgtgctgt
     2161 ggctctgtgg ttcaccttgg acccacttta tagagaattg gagcgaatac aggctgatga
     2221 agtgattgca attctggatc aagaacagca agggaagcat gaactgaata tcaaccctaa
     2281 agatgagcta taaaaatgag aaagaatgtt ctatcaaata tttatttaaa ttgttaatct
     2341 tatgagaacc tttttatttt tgtacagagc catggtataa attaacaggt taatgtcagt
     2401 catcagatct tccttctctt cctaaggatg cttgtgttgc ctcaatctat caatctatct
     2461 ttcttgtttt gggttgtttt ctctctctct ctctctctct ctcttcttag agacatggtc
     2521 taaccatgtt gtctaggata tagggcagtg gctattcaca gatgtgatga tagcacactg
     2581 gagcctcaaa ctcttaggct caggcgatcc ttcaagcctc ccggggagct gggaccacag
     2641 gcacgtgcca ccacacccag ctctctttct tggtttttca tcatttcatg tatctatcaa
     2701 agcccagttc acctcctccc ccaaacacac acacacacac acacacacac acacacacac
     2761 acaattaagt tgctgcaaat tcaaaagctt agagagaata agcttcttgg tggtgaaact
     2821 acaactctca cgtgtgctcc agttctaaaa ttaacctgtg cctggtctct gaagcccttt
     2881 cttgctctgt gcctttcagc cacatcctta ggtgctaacg gccatgagct ccgactctcc
     2941 aaagtgagct ccactttggg tctgaggagc ccctggcaga gtccacgctg cctcaggtat
     3001 catgggcgta atgatcaccc aggctccggg agatctcatg gatgattact gtatgagaca
     3061 gaggggactt cagtctttcc agggccttgg tggaattttt ggctctggtg ttttcgccag
     3121 acaataaact tacactggaa gctttgattc accctccaca gtactccaga aaggactgtc
     3181 ctataagttg tacactttaa aaggtcatgt agaggttgta gtagaatggc ttttcaccct
     3241 ggtgactttg gaagaaactc ttgaatactg cctgcatccg ggcaccatgg ccaggttgcc
     3301 taggagtggg gtccactgat gaaaagaggt gttttgtact tacataagaa aaataaattt
     3361 ctgattgatt ttaaccgtca tctgcttata ttttgggggc ccctcctcat tgctgctatc
     3421 cagcacacag atttgtgctt gtgtctgatt tgtttaataa agggaggctt attttaa
//
