LOCUS       NM_080732               2100 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens egl-9 family hypoxia inducible factor 2 (EGLN2),
            transcript variant 3, mRNA.
ACCESSION   NM_080732
VERSION     NM_080732.4
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 2100)
  AUTHORS   Wang,Z., Yan,M., Ye,L., Zhou,Q., Duan,Y., Jiang,H., Wang,L.,
            Ouyang,Y., Zhang,H., Shen,Y., Ji,G., Chen,X., Tian,Q., Xiao,L.,
            Wu,Q., Meng,Y., Liu,G., Ma,L., Lei,B., Lu,Z. and Xu,D.
  TITLE     VHL suppresses autophagy and tumor growth through PHD1-dependent
            Beclin1 hydroxylation
  JOURNAL   EMBO J 43 (6), 931-955 (2024)
   PUBMED   38360997
  REMARK    GeneRIF: VHL suppresses autophagy and tumor growth through
            PHD1-dependent Beclin1 hydroxylation.
REFERENCE   2  (bases 1 to 2100)
  AUTHORS   Barnes,E.A., Ito,R., Che,X., Alvira,C.M. and Cornfield,D.N.
  TITLE     Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells
            prevents Hypoxia-Induced pulmonary hypertension
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 325 (6), L741-L755 (2023)
   PUBMED   37847687
  REMARK    GeneRIF: Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing
            cells prevents Hypoxia-Induced pulmonary hypertension.
REFERENCE   3  (bases 1 to 2100)
  AUTHORS   Rahimi,N., Azizi,M., Bahari,G., Narouie,B. and Hashemi,M.
  TITLE     Association of EGLN2 rs10680577 Polymorphism with the Risk and
            Clinicopathological Features of Patients with Prostate Cancer
  JOURNAL   Asian Pac J Cancer Prev 21 (5), 1221-1226 (2020)
   PUBMED   32458625
  REMARK    GeneRIF: Association of EGLN2 rs10680577 Polymorphism with the Risk
            and Clinicopathological Features of Patients with Prostate Cancer.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2100)
  AUTHORS   Zurlo,G., Liu,X., Takada,M., Fan,C., Simon,J.M., Ptacek,T.S.,
            Rodriguez,J., von Kriegsheim,A., Liu,J., Locasale,J.W.,
            Robinson,A., Zhang,J., Holler,J.M., Kim,B., Zikanova,M., Bierau,J.,
            Xie,L., Chen,X., Li,M., Perou,C.M. and Zhang,Q.
  TITLE     Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic
            driver in triple negative breast cancer
  JOURNAL   Nat Commun 10 (1), 5177 (2019)
   PUBMED   31729379
  REMARK    GeneRIF: Adenylosuccinate lyase (ADSL) is an EglN2 hydroxylase
            substrate in triple negative breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2100)
  AUTHORS   Cockman,M.E., Lippl,K., Tian,Y.M., Pegg,H.B., Figg,W.D. Jnr,
            Abboud,M.I., Heilig,R., Fischer,R., Myllyharju,J., Schofield,C.J.
            and Ratcliffe,P.J.
  TITLE     Lack of activity of recombinant HIF prolyl hydroxylases (PHDs) on
            reported non-HIF substrates
  JOURNAL   Elife 8, e46490 (2019)
   PUBMED   31500697
  REMARK    GeneRIF: The authors did not detect prolyl-hydroxylase activity on
            any reported non-HIF protein or peptide, using conditions
            supporting robust HIF-alpha hydroxylation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2100)
  AUTHORS   Tian,Y.M., Mole,D.R., Ratcliffe,P.J. and Gleadle,J.M.
  TITLE     Characterization of different isoforms of the HIF prolyl
            hydroxylase PHD1 generated by alternative initiation
  JOURNAL   Biochem J 397 (1), 179-186 (2006)
   PUBMED   16509823
  REMARK    GeneRIF: defines the existence of two species of PHD1 and provide
            evidence that they are generated by alternative translational
            initiation
REFERENCE   7  (bases 1 to 2100)
  AUTHORS   Semenza,G.L.
  TITLE     HIF-1, O(2), and the 3 PHDs: how animal cells signal hypoxia to the
            nucleus
  JOURNAL   Cell 107 (1), 1-3 (2001)
   PUBMED   11595178
  REMARK    Review article
REFERENCE   8  (bases 1 to 2100)
  AUTHORS   Taylor,M.S.
  TITLE     Characterization and comparative analysis of the EGLN gene family
  JOURNAL   Gene 275 (1), 125-132 (2001)
   PUBMED   11574160
REFERENCE   9  (bases 1 to 2100)
  AUTHORS   Ivan,M., Kondo,K., Yang,H., Kim,W., Valiando,J., Ohh,M., Salic,A.,
            Asara,J.M., Lane,W.S. and Kaelin,W.G. Jr.
  TITLE     HIFalpha targeted for VHL-mediated destruction by proline
            hydroxylation: implications for O2 sensing
  JOURNAL   Science 292 (5516), 464-468 (2001)
   PUBMED   11292862
REFERENCE   10 (bases 1 to 2100)
  AUTHORS   Jaakkola,P., Mole,D.R., Tian,Y.M., Wilson,M.I., Gielbert,J.,
            Gaskell,S.J., von Kriegsheim,A., Hebestreit,H.F., Mukherji,M.,
            Schofield,C.J., Maxwell,P.H., Pugh,C.W. and Ratcliffe,P.J.
  TITLE     Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation
            complex by O2-regulated prolyl hydroxylation
  JOURNAL   Science 292 (5516), 468-472 (2001)
   PUBMED   11292861
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA300182.1, BC001723.1 and
            AA994838.1.
            
            On Nov 23, 2018 this sequence version replaced NM_080732.3.
            
            Summary: The hypoxia inducible factor (HIF) is a transcriptional
            complex that is involved in oxygen homeostasis. At normal oxygen
            levels, the alpha subunit of HIF is targeted for degration by
            prolyl hydroxylation. This gene encodes an enzyme responsible for
            this post-translational modification. Alternative splicing results
            in multiple transcript variants. Read-through transcription also
            exists between this gene and the upstream RAB4B (RAB4B, member RAS
            oncogene family) gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (3) represents the longer
            transcript. Both variants 1 and 3 utilize alternative start codons
            that result in expression of two isoforms known as PHD1p43 and
            PHD1p40.
            
            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 :: SRR3476690.367668.1, AL832506.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303961.9/ ENSP00000307080.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-49                DA300182.1         49-97
            50-2098             BC001723.1         1-2049
            2099-2100           AA994838.1         38-39               c
FEATURES             Location/Qualifiers
     source          1..2100
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.2"
     gene            1..2100
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /note="egl-9 family hypoxia inducible factor 2"
                     /db_xref="GeneID:112398"
                     /db_xref="HGNC:HGNC:14660"
                     /db_xref="MIM:606424"
     exon            1..72
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            73..1149
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             307..1530
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /EC_number="1.14.11.29"
                     /note="prolyl hydroxylase domain-containing protein 1;
                     HIF-prolyl hydroxylase 1; hypoxia-inducible factor prolyl
                     hydroxylase 1; estrogen-induced tag 6; egl nine homolog 2"
                     /codon_start=1
                     /product="prolyl hydroxylase EGLN2"
                     /protein_id="NP_542770.2"
                     /db_xref="CCDS:CCDS12567.1"
                     /db_xref="GeneID:112398"
                     /db_xref="HGNC:HGNC:14660"
                     /db_xref="MIM:606424"
                     /translation="MDSPCQPQPLSQALPQLPGSSSEPLEPEPGRARMGVESYLPCPL
                     LPSYHCPGVPSEASAGSGTPRATATSTTASPLRDGFGGQDGGELRPLQSEGAAALVTK
                     GCQRLAAQGARPEAPKRKWAEDGGDAPSPSKRPWARQENQEAEREGGMSCSCSSGSGE
                     ASAGLMEEALPSAPERLALDYIVPCMRYYGICVKDSFLGAALGGRVLAEVEALKRGGR
                     LRDGQLVSQRAIPPRSIRGDQIAWVEGHEPGCRSIGALMAHVDAVIRHCAGRLGSYVI
                     NGRTKAMVACYPGNGLGYVRHVDNPHGDGRCITCIYYLNQNWDVKVHGGLLQIFPEGR
                     PVVANIEPLFDRLLIFWSDRRNPHEVKPAYATRYAITVWYFDAKERAAAKDKYQLASG
                     QKGVQVPVSQPPTPT"
     exon            1150..1269
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1406
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1407..1474
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..2100
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2074..2079
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /note="hexamer: AATAAA"
     polyA_site      2100
                     /gene="EGLN2"
                     /gene_synonym="EIT-6; EIT6; HIF-PH1; HIFPH1; HPH-1; HPH-3;
                     PHD1"
                     /note="major polyA site"
ORIGIN      
        1 ggggtatggc gcgctgtgcg gcgcagggcg gctggcacaa acggcggcgc cggggccgga
       61 ggaaaaagct cgccaccctg aagggtccct tcccaagccc ttagggaccg cagaggactt
      121 ggggaccagc aagcaacccc cagggcacga gaagagctct tgctgtctgc cctgcctcac
      181 cctgccccac gccaggcccg gtggccccca gctgcatcaa gtggaggcgg aggaggaggc
      241 ggaggagggt ggcaccatgg gcccgggcgg tgccctccat gcccggggga tgaagacact
      301 gctgccatgg acagcccgtg ccagccgcag cccctaagtc aggctctccc tcagttacca
      361 gggtcttcgt cagagccctt ggagcctgag cctggccggg ccaggatggg agtggagagt
      421 tacctgccct gtcccctgct cccctcctac cactgtccag gagtgcctag tgaggcctcg
      481 gcagggagtg ggacccccag agccacagcc acctctacca ctgccagccc tcttcgggac
      541 ggttttggcg ggcaggatgg tggtgagctg cggccgctgc agagtgaagg cgctgcagcg
      601 ctggtcacca aggggtgcca gcgattggca gcccagggcg cacggcctga ggcccccaaa
      661 cggaaatggg ccgaggatgg tggggatgcc ccttcaccca gcaaacggcc ctgggccagg
      721 caagagaacc aggaggcaga gcgggagggt ggcatgagct gcagctgcag cagtggcagt
      781 ggtgaggcca gtgctgggct gatggaggag gcgctgccct ctgcgcccga gcgcctggcc
      841 ctggactata tcgtgccctg catgcggtac tacggcatct gcgtcaagga cagcttcctg
      901 ggggcagcac tgggcggtcg cgtgctggcc gaggtggagg ccctcaaacg gggtgggcgc
      961 ctgcgagacg ggcagctagt gagccagagg gcgatcccgc cgcgcagcat ccgtggggac
     1021 cagattgcct gggtggaagg ccatgaacca ggctgtcgaa gcattggtgc cctcatggcc
     1081 catgtggacg ccgtcatccg ccactgcgca gggcggctgg gcagctatgt catcaacggg
     1141 cgcaccaagg ccatggtggc gtgttaccca ggcaacgggc tcgggtacgt aaggcacgtt
     1201 gacaatcccc acggcgatgg gcgctgcatc acctgtatct attacctgaa tcagaactgg
     1261 gacgttaagg tgcatggcgg cctgctgcag atcttccctg agggccggcc cgtggtagcc
     1321 aacatcgagc cactctttga ccggttgctc attttctggt ctgaccggcg gaacccccac
     1381 gaggtgaagc cagcctatgc caccaggtac gccatcactg tctggtattt tgatgccaag
     1441 gagcgggcag cagccaaaga caagtatcag ctagcatcag gacagaaagg tgtccaagta
     1501 cctgtatcac agccgcctac gcccacctag tggccagtcc cagagccgca tggcagacag
     1561 cttaaatgac ttcaggagag ccctgggcct gtgctggctg ctccttccct gccaccgctg
     1621 ctgcttctga ctttgcctct gtcctgcctg gtgtggaggg ctctgtctgt tgctgaggac
     1681 caaggaggag aagagacctt tgctgcccca tcatgggggc tggggttgtc acctggacag
     1741 ggggcagccg tggaggccac cgttaccaac tgaagctggg ggcctgggtc ctaccctgtc
     1801 tggtcatgac cccattaggt atggagagct gggaggaggc attgtcactt cccaccagga
     1861 tgcaggactt ggggttgagg tgagtcatgg cctcttgctg gcaatggggt gggaggagta
     1921 cccccaagtc ctctcactcc tccagcctgg aatgtgaagt gactccccaa cccctttggc
     1981 catggcaggc accttttgga ctgggctgcc actgcttggg cagagtaaaa ggtgccagga
     2041 ggagcatggg tgtggaagtc ctgtcagcca agaaataaaa gtttacctca gagctgcaca
//
