LOCUS       NM_000302               2976 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
            (PLOD1), transcript variant 2, mRNA.
ACCESSION   NM_000302 XM_001715762 XM_001720424 XM_001721275
VERSION     NM_000302.4
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 2976)
  AUTHORS   Cao,Z.R., Zheng,W.X., Jiang,Y.X., Chai,H., Gong,J.H., Zhao,M.J.,
            Yan,P., Liu,Y.Y., Liu,X.Y., Huang,Z.T., Yang,H., Peng,D.D.,
            Zong,K.Z. and Wu,Z.J.
  TITLE     miR-449a ameliorates acute rejection after liver transplantation
            via targeting procollagen-lysine1,2-oxoglutarate5-dioxygenase 1 in
            macrophages
  JOURNAL   Am J Transplant 23 (3), 336-352 (2023)
   PUBMED   36695693
  REMARK    GeneRIF: miR-449a ameliorates acute rejection after liver
            transplantation via targeting
            procollagen-lysine1,2-oxoglutarate5-dioxygenase 1 in macrophages.
REFERENCE   2  (bases 1 to 2976)
  AUTHORS   Zhang,J., Dong,Y., Shi,Z., He,H., Chen,J., Zhang,S., Wu,W.,
            Zhang,Q., Han,C. and Hao,L.
  TITLE     P3H4 and PLOD1 expression associates with poor prognosis in bladder
            cancer
  JOURNAL   Clin Transl Oncol 24 (8), 1524-1532 (2022)
   PUBMED   35149972
  REMARK    GeneRIF: P3H4 and PLOD1 expression associates with poor prognosis
            in bladder cancer.
REFERENCE   3  (bases 1 to 2976)
  AUTHORS   Yuan,B., Xu,Y. and Zheng,S.
  TITLE     PLOD1 acts as a tumor promoter in glioma via activation of the HSF1
            signaling pathway
  JOURNAL   Mol Cell Biochem 477 (2), 549-557 (2022)
   PUBMED   34845571
  REMARK    GeneRIF: PLOD1 acts as a tumor promoter in glioma via activation of
            the HSF1 signaling pathway.
REFERENCE   4  (bases 1 to 2976)
  AUTHORS   Koenig,S.N., Cavus,O., Williams,J., Bernier,M., Tonniges,J.,
            Sucharski,H., Dew,T., Akel,M., Baker,P., Madiai,F., De Giorgi,F.,
            Scietti,L., Faravelli,S., Forneris,F., Mohler,P.J. and Bradley,E.A.
  TITLE     New mechanistic insights to PLOD1-mediated human vascular disease
  JOURNAL   Transl Res 239, 1-17 (2022)
   PUBMED   34400365
  REMARK    GeneRIF: New mechanistic insights to PLOD1-mediated human vascular
            disease.
REFERENCE   5  (bases 1 to 2976)
  AUTHORS   Zhang,Y., Wu,Y. and Su,X.
  TITLE     PLOD1 promotes cell growth and aerobic glycolysis by regulating the
            SOX9/PI3K/Akt/mTOR signaling pathway in gastric cancer
  JOURNAL   Front Biosci (Landmark Ed) 26 (8), 322-334 (2021)
   PUBMED   34455762
  REMARK    GeneRIF: PLOD1 promotes cell growth and aerobic glycolysis by
            regulating the SOX9/PI3K/Akt/mTOR signaling pathway in gastric
            cancer.
REFERENCE   6  (bases 1 to 2976)
  AUTHORS   Rohrbach,M. and Giunta,C.
  TITLE     PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301635
REFERENCE   7  (bases 1 to 2976)
  AUTHORS   Anttinen,H., Tuderman,L., Oikarinen,A. and Kivirikko,K.I.
  TITLE     Intracellular enzymes of collagen biosynthesis in human platelets
  JOURNAL   Blood 50 (1), 29-37 (1977)
   PUBMED   194639
REFERENCE   8  (bases 1 to 2976)
  AUTHORS   Lanier,V.C. Jr., Serafin,D., Kleinert,H.F., Kutz,J.E., Atasoy,E.
            and Lister,G.
  TITLE     Microvascular procedures in reconstructive surgery
  JOURNAL   South Med J 69 (12), 1595-1597 (1976)
   PUBMED   798297
REFERENCE   9  (bases 1 to 2976)
  AUTHORS   Steinmann,B., Gitzelmann,R., Vogel,A., Grant,M.E., Harwood,R. and
            Sear,C.H.
  TITLE     Ehlers-Danlos syndrome in two siblings with deficient lysyl
            hydroxylase activity in cultured skin fibroblasts but only mild
            hydroxylysine deficit in skin
  JOURNAL   Helv Paediatr Acta 30 (3), 255-274 (1975)
   PUBMED   1184396
REFERENCE   10 (bases 1 to 2976)
  AUTHORS   Ryhanen,L.
  TITLE     Hydroxylation of lysyl residues in lysine-rich and arginine-rich
            histones by lysyl hydroxylase in vitro
  JOURNAL   Biochim Biophys Acta 397 (1), 50-57 (1975)
   PUBMED   1148262
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC334246.1, M98252.1 and
            BQ447373.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000302.3.
            
            Summary: Lysyl hydroxylase is a membrane-bound homodimeric protein
            localized to the cisternae of the endoplasmic reticulum. The enzyme
            (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl
            residues in collagen-like peptides. The resultant hydroxylysyl
            groups are attachment sites for carbohydrates in collagen and thus
            are critical for the stability of intermolecular crosslinks. Some
            patients with Ehlers-Danlos syndrome type VI have deficiencies in
            lysyl hydroxylase activity. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Oct 2015].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region compared to variant 1. The resulting
            isoform (2) has the same N- and C-termini but is shorter compared
            to isoform 1.
            
            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 :: SRR1803613.277372.1,
                                           SRR1803611.179944.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000196061.5/ ENSP00000196061.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                DC334246.1         51-89
            40-2387             M98252.1           1-2348
            2388-2976           BQ447373.1         22-610              c
FEATURES             Location/Qualifiers
     source          1..2976
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.22"
     gene            1..2976
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="procollagen-lysine,2-oxoglutarate 5-dioxygenase 1"
                     /db_xref="GeneID:5351"
                     /db_xref="HGNC:HGNC:9081"
                     /db_xref="MIM:153454"
     exon            1..139
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            140..231
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            232..365
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            366..529
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            530..642
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            643..706
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            707..804
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            805..906
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            907..1038
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1160
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1161..1265
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1391
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1533
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1534..1647
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1648..1713
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..1818
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1819..1965
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1966..2091
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2976
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2957..2962
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="hexamer: ATTAAA"
     polyA_site      2976
                     /gene="PLOD1"
                     /gene_synonym="EDS6; EDSKCL1; LH; LH1; LLH; PLOD"
                     /note="major polyA site"
ORIGIN      
        1 gtcgcgaagt ttccagccct gcgagcgccg ccgggtcggc cgatcgtccc ccatacctcg
       61 gccatgcggc ccctgctgct actggccctg ctgggctggc tgctgctggc cgaagcgaag
      121 ggcgacgcca agccggagga caacctttta gtcctcacgg tggccactaa ggagaccgag
      181 ggattccgtc gcttcaagcg ctcagctcag ttcttcaact acaagatcca ggcgcttggc
      241 ctaggggagg actggaatgt ggagaagggg acgtcggcag gtggagggca gaaggtccgg
      301 ctgctgaaga aagctctgga gaagcacgca gacaaggagg atctggtcat tctcttcgca
      361 gacagctatg acgtgctgtt tgcatcgggg ccccgggagc tcctgaagaa gttccggcag
      421 gccaggagcc aggtggtctt ctctgctgag gagctcatct acccagaccg caggctggag
      481 accaagtatc cggtggtgtc cgatggcaag aggttcctgg gctctggagg cttcatcggt
      541 tatgccccca acctcagcaa actggtggcc gagtgggagg gccaggacag cgacagcgat
      601 cagctgtttt acaccaagat cttcttggac ccggagaaga gggagcagat caatatcacc
      661 ctggaccacc gctgccgtat cttccagaac ctggatggag ccttggatga ggtcgtgctc
      721 aagtttgaaa tgggccatgt gagagcgagg aacctggcct atgacaccct cccggtcctg
      781 atccatggca acgggccaac caagctgcag ttgaactacc tgggcaacta catcccgcgc
      841 ttctggacct tcgaaacagg ctgcaccgtg tgtgacgaag gcttgcgcag cctcaagggc
      901 attggggatg aagctctgcc cacggtcctg gtcggcgtgt tcatcgaaca gcccacgccg
      961 tttgtgtccc tgttcttcca gcggctcctg cggctccact acccccagaa acacatgcga
     1021 cttttcatcc acaaccacga gcagcaccac aaggctcagg tggaagagtt cctggcacag
     1081 catggcagcg agtaccagtc tgtgaagctg gtgggccctg aggtgcggat ggcgaatgca
     1141 gatgccagga acatgggcgc agacctgtgc cggcaggacc gcagctgcac ctactacttc
     1201 agcgtggatg ctgacgtggc cctgaccgag cccaacagcc tgcggctgct gatccaacag
     1261 aacaagaacg tcattgcccc gctgatgacc cggcatggga ggctgtggtc gaacttctgg
     1321 ggggctctca gtgcagatgg ctactatgcc cgttccgagg actacgtgga cattgtgcag
     1381 gggcggcgtg ttggtgtctg gaatgtgccc tatatttcaa acatctactt gatcaagggc
     1441 agtgccctgc ggggtgagct gcagtcctca gatctcttcc accacagcaa gctggacccc
     1501 gacatggcct tctgtgccaa catccggcag caggatgtgt tcatgttcct gaccaaccgg
     1561 cacacccttg gccatctgct ctccctagac agctaccgca ccacccacct gcacaacgac
     1621 ctctgggagg tgttcagcaa ccccgaggac tggaaggaga agtacatcca ccagaactac
     1681 accaaagccc tggcagggaa gctggtggag acgccctgcc cggatgtcta ttggttcccc
     1741 atcttcacgg aggtggcctg tgatgagctg gtggaggaga tggagcactt tggccagtgg
     1801 tctctgggca acaacaagga caaccgcatc cagggtggct acgagaacgt gccgactatt
     1861 gacatccaca tgaaccagat cggctttgag cgggagtggc acaaattcct gctggagtac
     1921 attgcgccca tgacggagaa gctctacccc ggctactaca ccagggccca gtttgacctg
     1981 gcctttgtcg tccgctacaa gcctgatgag cagccctcac tgatgccaca ccatgatgcc
     2041 tccaccttca ccatcaacat cgccctgaac cgagtcgggg tggattacga gggcgggggc
     2101 tgtcggttcc tgcgctacaa ctgttccatc cgagccccaa ggaagggctg gaccctcatg
     2161 caccctggac gactcacgca ttaccatgag gggctcccca ccaccagggg cacccgctac
     2221 atcgcagtct ccttcgtcga tccctaattg gccaggcctg accctcttgg acctttcttc
     2281 tttgccgaca accactgccc agcagcctct gggacctcgg ggtcccaggg aacccagtcc
     2341 agcctcctgg ctgttgactt cccattgctc ttggagccac caatcaaaga gattcaaaga
     2401 gattcctgca ggccagaggc ggaacacacc tttatggctg gggctctccg tggtgttctg
     2461 gacccagccc ctggagacac cattcacttt tactgctttg tagtgactcg tgctctccaa
     2521 cctgtcttcc tgaaaaacca aggccccctt cccccacctc ttccatgggg tgagacttga
     2581 gcagaacagg ggcttcccca agttgcccag aaagactgtc tgggtgagaa gccatggcca
     2641 gagcttctcc caggcacagg tgttgcacca gggacttctg cttcaagttt tggggtaaag
     2701 acacctggat cagactccaa gggctgccct gagtctggga cttctgcctc catggctggt
     2761 catgagagca aaccgtagtc ccctggagac agcgactcca gagaacctct tgggagacag
     2821 aagaggcatc tgtgcacagc tcgatcttct acttgcctgt ggggagggga gtgacaggtc
     2881 cacacaccac actgggtcac cctgtcctgg atgcctctga agagagggac agaccgtcag
     2941 aaactggaga gtttctatta aaggtcattt aaacca
//
