LOCUS       NM_022073               2706 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens egl-9 family hypoxia inducible factor 3 (EGLN3),
            transcript variant 1, mRNA.
ACCESSION   NM_022073 NM_033344
VERSION     NM_022073.4
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 2706)
  AUTHORS   Duan,M., Ru,X., Zhou,J., Li,Y., Guo,P., Kang,W., Li,W., Chen,Z.,
            Feng,H. and Chen,Y.
  TITLE     Endothelial EGLN3-PKM2 signaling induces the formation of acute
            astrocytic barrier to alleviate immune cell infiltration after
            subarachnoid hemorrhage
  JOURNAL   Fluids Barriers CNS 21 (1), 42 (2024)
   PUBMED   38755642
  REMARK    GeneRIF: Endothelial EGLN3-PKM2 signaling induces the formation of
            acute astrocytic barrier to alleviate immune cell infiltration
            after subarachnoid hemorrhage.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2706)
  AUTHORS   Cai,F., Yang,X., Ma,G., Wang,P., Zhang,M., Zhang,N., Zhang,R.,
            Liang,H., Nie,Y., Dong,C. and Deng,J.
  TITLE     EGLN3 attenuates gastric cancer cell malignant characteristics by
            inhibiting JMJD8/NF-kappaB signalling activation independent of
            hydroxylase activity
  JOURNAL   Br J Cancer 130 (4), 597-612 (2024)
   PUBMED   38184692
  REMARK    GeneRIF: EGLN3 attenuates gastric cancer cell malignant
            characteristics by inhibiting JMJD8/NF-kappaB signalling activation
            independent of hydroxylase activity.
REFERENCE   3  (bases 1 to 2706)
  AUTHORS   Luomala,L., Mattila,K., Vainio,P., Nisen,H., Pellinen,T., Lohi,J.,
            Laajala,T.D., Jarvinen,P., Koskenniemi,A.R., Jaakkola,P. and
            Mirtti,T.
  TITLE     Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and
            PHD3/EGLN3 are associated with poor recurrence-free survival in
            clear cell renal cell carcinoma
  JOURNAL   Cancer Med 13 (3), e6998 (2024)
   PUBMED   38400673
  REMARK    GeneRIF: Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and
            PHD3/EGLN3 are associated with poor recurrence-free survival in
            clear cell renal cell carcinoma.
REFERENCE   4  (bases 1 to 2706)
  AUTHORS   Zhou,P., Peng,X., Tang,S., Zhang,K., Tan,Z., Li,D., Shen,L.,
            Peng,J. and Yang,L.
  TITLE     E3 ligase MAEA-mediated ubiquitination and degradation of PHD3
            promotes glioblastoma progression
  JOURNAL   Oncogene 42 (16), 1308-1320 (2023)
   PUBMED   36882523
  REMARK    GeneRIF: E3 ligase MAEA-mediated ubiquitination and degradation of
            PHD3 promotes glioblastoma progression.
REFERENCE   5  (bases 1 to 2706)
  AUTHORS   Jin,Y., Pan,Y., Zheng,S., Liu,Y., Xu,J., Peng,Y., Zhang,Z.,
            Wang,Y., Xiong,Y., Xu,L., Mu,K., Chen,S., Zheng,F., Yuan,Y. and
            Fu,J.
  TITLE     Inactivation of EGLN3 hydroxylase facilitates Erk3 degradation via
            autophagy and impedes lung cancer growth
  JOURNAL   Oncogene 41 (12), 1752-1766 (2022)
   PUBMED   35124697
  REMARK    GeneRIF: Inactivation of EGLN3 hydroxylase facilitates Erk3
            degradation via autophagy and impedes lung cancer growth.
REFERENCE   6  (bases 1 to 2706)
  AUTHORS   Oehme,F., Ellinghaus,P., Kolkhof,P., Smith,T.J., Ramakrishnan,S.,
            Hutter,J., Schramm,M. and Flamme,I.
  TITLE     Overexpression of PH-4, a novel putative proline 4-hydroxylase,
            modulates activity of hypoxia-inducible transcription factors
  JOURNAL   Biochem Biophys Res Commun 296 (2), 343-349 (2002)
   PUBMED   12163023
REFERENCE   7  (bases 1 to 2706)
  AUTHORS   Bruick,R.K. and McKnight,S.L.
  TITLE     A conserved family of prolyl-4-hydroxylases that modify HIF
  JOURNAL   Science 294 (5545), 1337-1340 (2001)
   PUBMED   11598268
REFERENCE   8  (bases 1 to 2706)
  AUTHORS   Epstein,A.C., Gleadle,J.M., McNeill,L.A., Hewitson,K.S.,
            O'Rourke,J., Mole,D.R., Mukherji,M., Metzen,E., Wilson,M.I.,
            Dhanda,A., Tian,Y.M., Masson,N., Hamilton,D.L., Jaakkola,P.,
            Barstead,R., Hodgkin,J., Maxwell,P.H., Pugh,C.W., Schofield,C.J.
            and Ratcliffe,P.J.
  TITLE     C. elegans EGL-9 and mammalian homologs define a family of
            dioxygenases that regulate HIF by prolyl hydroxylation
  JOURNAL   Cell 107 (1), 43-54 (2001)
   PUBMED   11595184
REFERENCE   9  (bases 1 to 2706)
  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   10 (bases 1 to 2706)
  AUTHORS   Taylor,M.S.
  TITLE     Characterization and comparative analysis of the EGLN gene family
  JOURNAL   Gene 275 (1), 125-132 (2001)
   PUBMED   11574160
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK025273.1 and AL358340.6.
            
            On May 17, 2019 this sequence version replaced NM_022073.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: SRR3476690.988174.1,
                                           SRR1803616.41347.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000250457.9/ ENSP00000250457.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1252              AK025273.1         5-1256
            1253-2706           AL358340.6         42372-43825         c
FEATURES             Location/Qualifiers
     source          1..2706
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q13.1"
     gene            1..2706
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="egl-9 family hypoxia inducible factor 3"
                     /db_xref="GeneID:112399"
                     /db_xref="HGNC:HGNC:14661"
                     /db_xref="MIM:606426"
     exon            1..679
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /inference="alignment:Splign:2.1.0"
     CDS             323..1042
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /EC_number="1.14.11.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     HPH-1; HPH-3; HIF-PH3; HIF-prolyl hydroxylase 3;
                     hypoxia-inducible factor prolyl hydroxylase 3; prolyl
                     hydroxylase domain-containing protein 3; prolyl
                     hydroxylase EGLN3"
                     /codon_start=1
                     /product="prolyl hydroxylase EGLN3 isoform 1"
                     /protein_id="NP_071356.1"
                     /db_xref="CCDS:CCDS9646.1"
                     /db_xref="GeneID:112399"
                     /db_xref="HGNC:HGNC:14661"
                     /db_xref="MIM:606426"
                     /translation="MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVL
                     ERVKQLHCTGALRDGQLAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLV
                     LYCGSRLGKYYVKERSKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKL
                     HGGILRIFPEGKSFIADVEPIFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYFDAEER
                     AEAKKKFRNLTRKTESALTED"
     exon            680..799
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /inference="alignment:Splign:2.1.0"
     exon            800..936
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1010
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..2706
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1701..1706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="hexamer: AATAAA"
     polyA_site      1719
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="major polyA site"
     regulatory      2065..2070
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="hexamer: AATAAA"
     polyA_site      2085
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="major polyA site"
     regulatory      2687..2692
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
                     /note="hexamer: AATAAA"
     polyA_site      2706
                     /gene="EGLN3"
                     /gene_synonym="HIFP4H3; HIFPH3; PHD3"
ORIGIN      
        1 ctggccgcag tcgcggcagt ggtggcttcc catccccaaa aggcgccctc cgactccttg
       61 cgccgcactg ctcgccgggc cagtccggaa acgggtcgtg gagctccgca ccactcccgc
      121 tggttcccga aggcagatcc cttctcccga gagttgcgag aaactttccc ttgtccccga
      181 cgctgcagcg gctcgggtac cgtggcagcc gcaggtttct gaaccccggg ccacgctccc
      241 cgcgcctcgg cttcgcgctc gtgtagatcg ttccctctct ggttgcacgc tggggatccc
      301 ggacctcgat tctgcgggcg agatgcccct gggacacatc atgaggctgg acctggagaa
      361 aattgccctg gagtacatcg tgccctgtct gcacgaggtg ggcttctgct acctggacaa
      421 cttcctgggc gaggtggtgg gcgactgcgt cctggagcgc gtcaagcagc tgcactgcac
      481 cggggccctg cgggacggcc agctggcggg gccgcgcgcc ggcgtctcca agcgacacct
      541 gcggggcgac cagatcacgt ggatcggggg caacgaggag ggctgcgagg ccatcagctt
      601 cctcctgtcc ctcatcgaca ggctggtcct ctactgcggg agccggctgg gcaaatacta
      661 cgtcaaggag aggtctaagg caatggtggc ttgctatccg ggaaatggaa caggttatgt
      721 tcgccacgtg gacaacccca acggtgatgg tcgctgcatc acctgcatct actatctgaa
      781 caagaattgg gatgccaagc tacatggtgg gatcctgcgg atatttccag aggggaaatc
      841 attcatagca gatgtggagc ccatttttga cagactcctg ttcttctggt cagatcgtag
      901 gaacccacac gaagtgcagc cctcttacgc aaccagatat gctatgactg tctggtactt
      961 tgatgctgaa gaaagggcag aagccaaaaa gaaattcagg aatttaacta ggaaaactga
     1021 atctgccctc actgaagact gaccgtgctc tgaaatctgc tggccttgtt cattttagta
     1081 acggttcctg aattctctta aattctttga gatccaaaga tggcctcttc agtgacaaca
     1141 atctccctgc tacttcttgc atccttcaca tccctgtctt gtgtgtggta cttcatgttt
     1201 tcttgccaag actgtgttga tcttcagata ctctctttgc cagatgaagt tacttgctaa
     1261 ctccagaaat tcctgcagac atcctactcg gccagcggtt tacctgatag attcggtaat
     1321 actatcaaga gaagagccta ggagcacagc gagggaatga accttacttg cactttatgt
     1381 atacttcctg atttgaaagg aggaggtttg aaaagaaaaa aatggaggtg gtagatgcca
     1441 cagagaggca tcacggaagc cttaacagca ggaaacagag aaatttgtgt catctgaaca
     1501 atttccagat gttcttaatc cagggctgtt ggggtttctg gagaattatc acaacctaat
     1561 gacattaata cctctagaaa gggctgctgt catagtgaac aatttataag tgtcccatgg
     1621 ggcagacact ccttttttcc cagtcctgca acctggattt tctgcctcag ccccattttg
     1681 ctgaaaataa tgactttctg aataaagatg gcaacacaat tttttctcca ttttcagttc
     1741 ttacctggga acctaattcc ccagaagcta aaaaactaga cattagttgt tttggttgct
     1801 ttgttggaat ggaatttaaa tttaaatgaa aggaaaaata tatccctggt agttttgtgt
     1861 taaccactga taactgtgga aagagctagg tctactgata tacaataaac atgtgtgcat
     1921 cttgaacaat ttgagagggg aggtggagtt ggaaatgtgg gtgttcctgt tttttttttt
     1981 tttttttttt tagttttcct ttttaatgag ctcacccttt aacacaaaaa aagcaaggtg
     2041 atgtatttta aaaaaggaag tggaaataaa aaaatctcaa agctatttga gttctcgtct
     2101 gtccctagca gtctttcttc agctcacttg gctctctaga tccactgtgg ttggcagtat
     2161 gaccagaatc atggaatttg ctagaactgt ggaagcttct actcctgcag taagcacaga
     2221 tcgcactgcc tcaataactt ggtattgagc acgtattttg caaaagctac ttttcctagt
     2281 tttcagtatt actttcatgt tttaaaaatc cctttaattt cttgcttgaa aatcccatga
     2341 acattaaaga gccagaaata ttttcctttg ttatgtacgg atatatatat atatagtctt
     2401 ccaagataga agtttacttt ttcctcttct ggttttggaa aatttccaga taagacatgt
     2461 caccattaat tctcaacgac tgctctattt tgttgtacgg taatagttat caccttctaa
     2521 attactatgt aatttattca cttattatgt ttattgtctt gtatcctttc tctggagtgt
     2581 aagcacaatg aagacaggaa ttttgtatat ttttaaccaa tgcaacatac tctcagcacc
     2641 taaaatagtg ccgggaacat agtaagggct cagtaaatac ttgttgaata aactcagtct
     2701 cctaca
//
