LOCUS       NM_022051               4335 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens egl-9 family hypoxia inducible factor 1 (EGLN1),
            transcript variant 1, mRNA.
ACCESSION   NM_022051
VERSION     NM_022051.3
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 4335)
  AUTHORS   Wang,R., Gomez Salazar,M., Prunonosa Cervera,I., Coutts,A.,
            French,K., Pinto,M.M., Gohlke,S., Garcia-Martin,R., Bluher,M.,
            Schofield,C.J., Kourtzelis,I., Stimson,R.H., Benezech,C.,
            Christian,M., Schulz,T.J., Gudmundsson,E.F., Jennings,L.L.,
            Gudnason,V.G., Chavakis,T., Morton,N.M., Emilsson,V. and
            Michailidou,Z.
  TITLE     Adipocyte deletion of the oxygen-sensor PHD2 sustains elevated
            energy expenditure at thermoneutrality
  JOURNAL   Nat Commun 15 (1), 7483 (2024)
   PUBMED   39209825
  REMARK    GeneRIF: Adipocyte deletion of the oxygen-sensor PHD2 sustains
            elevated energy expenditure at thermoneutrality.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4335)
  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   3  (bases 1 to 4335)
  AUTHORS   Harit,R., De,S., Singh,P.K., Kashyap,D., Kumar,M., Sahu,D.,
            Yadav,C.P., Mohan,M., Singh,V., Tomar,R.S., Pandey,K.C. and
            Vashisht,K.
  TITLE     Association of the C allele of rs479200 in the EGLN1 gene with
            COVID-19 severity in Indian population: a novel finding
  JOURNAL   Hum Genomics 18 (1), 7 (2024)
   PUBMED   38291512
  REMARK    GeneRIF: Association of the C allele of rs479200 in the EGLN1 gene
            with COVID-19 severity in Indian population: a novel finding.
            Erratum:[Hum Genomics. 2024 Feb 8;18(1):17. doi:
            10.1186/s40246-024-00584-x.. PMID: 38331989]
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4335)
  AUTHORS   Li,X., Zhang,P., Yu,J., Zhang,C., Shi,Y., Wei,X., Li,H., Zhang,X.,
            Lin,A., Yang,Z., Wang,Y. and Wang,X.
  TITLE     A Case-Control Study of the Associations between EGLN1 Gene
            Polymorphisms and COPD
  JOURNAL   Front Biosci (Landmark Ed) 29 (1), 18 (2024)
   PUBMED   38287821
  REMARK    GeneRIF: A Case-Control Study of the Associations between EGLN1
            Gene Polymorphisms and COPD.
REFERENCE   5  (bases 1 to 4335)
  AUTHORS   Xiang,L., Wei,H., Ye,W., Wu,S. and Xie,G.
  TITLE     Prolyl hydroxylase 2 inhibits glycolytic activity in colorectal
            cancer via the NF-kappaB signaling pathway
  JOURNAL   Int J Oncol 64 (1) (2024)
   PUBMED   37975227
  REMARK    GeneRIF: Prolyl hydroxylase 2 inhibits glycolytic activity in
            colorectal cancer via the NF-kappaB signaling pathway.
REFERENCE   6  (bases 1 to 4335)
  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   7  (bases 1 to 4335)
  AUTHORS   Taylor,M.S.
  TITLE     Characterization and comparative analysis of the EGLN gene family
  JOURNAL   Gene 275 (1), 125-132 (2001)
   PUBMED   11574160
REFERENCE   8  (bases 1 to 4335)
  AUTHORS   Dupuy,D., Aubert,I., Duperat,V.G., Petit,J., Taine,L., Stef,M.,
            Bloch,B. and Arveiler,B.
  TITLE     Mapping, characterization, and expression analysis of the SM-20
            human homologue, c1orf12, and identification of a novel related
            gene, SCAND2
  JOURNAL   Genomics 69 (3), 348-354 (2000)
   PUBMED   11056053
REFERENCE   9  (bases 1 to 4335)
  AUTHORS   Dominguez,O., Ashhab,Y., Sabater,L., Belloso,E., Caro,P. and
            Pujol-Borrell,R.
  TITLE     Cloning of ARE-containing genes by AU-motif-directed display
  JOURNAL   Genomics 54 (2), 278-286 (1998)
   PUBMED   9828130
REFERENCE   10 (bases 1 to 4335)
  AUTHORS   Wax,S.D., Tsao,L., Lieb,M.E., Fallon,J.T. and Taubman,M.B.
  TITLE     SM-20 is a novel 40-kd protein whose expression in the arterial
            wall is restricted to smooth muscle
  JOURNAL   Lab Invest 74 (4), 797-808 (1996)
   PUBMED   8606489
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF229245.1, AL117352.12 and
            AI017372.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 19, 2019 this sequence version replaced NM_022051.2.
            
            Summary: The protein encoded by this gene catalyzes the
            post-translational formation of 4-hydroxyproline in
            hypoxia-inducible factor (HIF) alpha proteins. HIF is a
            transcriptional complex that plays a central role in mammalian
            oxygen homeostasis. This protein functions as a cellular oxygen
            sensor, and under normal oxygen concentration, modification by
            prolyl hydroxylation is a key regulatory event that targets HIF
            subunits for proteasomal destruction via the von Hippel-Lindau
            ubiquitylation complex. Mutations in this gene are associated with
            erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov
            2009].
            
            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 :: AJ310543.1, AL833885.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366641.4/ ENSP00000355601.3
            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
            1-2277              AF229245.1         2758-5034
            2278-4309           AL117352.12        92517-94548         c
            4310-4335           AI017372.1         11-36               c
FEATURES             Location/Qualifiers
     source          1..4335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.2"
     gene            1..4335
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /note="egl-9 family hypoxia inducible factor 1"
                     /db_xref="GeneID:54583"
                     /db_xref="HGNC:HGNC:1232"
                     /db_xref="MIM:606425"
     exon            1..1290
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /inference="alignment:Splign:2.1.0"
     CDS             400..1680
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /EC_number="1.14.11.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     prolyl hydroxylase domain-containing protein 2; zinc
                     finger MYND domain-containing protein 6; hypoxia-inducible
                     factor prolyl hydroxylase 2; egl nine-like protein 1;
                     HIF-prolyl hydroxylase 2"
                     /codon_start=1
                     /product="egl nine homolog 1 isoform 1"
                     /protein_id="NP_071334.1"
                     /db_xref="CCDS:CCDS1595.1"
                     /db_xref="GeneID:54583"
                     /db_xref="HGNC:HGNC:1232"
                     /db_xref="MIM:606425"
                     /translation="MANDSGGPGGPSPSERDRQYCELCGKMENLLRCSRCRSSFYCCK
                     EHQRQDWKKHKLVCQGSEGALGHGVGPHQHSGPAPPAAVPPPRAGAREPRKAAARRDN
                     ASGDAAKGKVKAKPPADPAAAASPCRAAAGGQGSAVAAEAEPGKEEPPARSSLFQEKA
                     NLYPPSNTPGDALSPGGGLRPNGQTKPLPALKLALEYIVPCMNKHGICVVDDFLGKET
                     GQQIGDEVRALHDTGKFTDGQLVSQKSDSSKDIRGDKITWIEGKEPGCETIGLLMSSM
                     DDLIRHCNGKLGSYKINGRTKAMVACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDW
                     DAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFD
                     ADERARAKVKYLTGEKGVRVELNKPSDSVGKDVF"
     exon            1291..1410
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1547
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /inference="alignment:Splign:2.1.0"
     exon            1548..1615
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..4335
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4319..4324
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /note="hexamer: TATAAA"
     polyA_site      4335
                     /gene="EGLN1"
                     /gene_synonym="C1orf12; ECYT3; HALAH; HIF-PH2; HIFPH2;
                     HPH-2; HPH2; PHD2; SM20; ZMYND6"
                     /note="major polyA site"
ORIGIN      
        1 gcagagcgag tggcgcccgt atgccctgcg ctcctccaca gcctgggccg ggccgcccgg
       61 gacgctgagg cggcggcggc ggccgagggg gccggtcttg cgctccccag gcccgcgcgc
      121 ctgagcccag gttgccattc gccgcacagg ccctattctc tcagccctcg gcggcgatga
      181 ggcgctgagg cggctgccgg cgctgcgccg gagcttagga ctcggaagcg gccgggccga
      241 gggcgtgggg tgccggcctc cctgaggcga gggtagcggg tgcatggcgc agtaacggcc
      301 cctatctctc tccccgctcc ccagcctcgg gcgaggccgt ccggccgcta cccctcctgc
      361 tcggccgccg cagtcgccgt cgccgccgcc gccgccgcca tggccaatga cagcggcggg
      421 cccggcgggc cgagcccgag cgagcgagac cggcagtact gcgagctgtg cgggaagatg
      481 gagaacctgc tgcgctgcag ccgctgccgc agctccttct actgctgcaa ggagcaccag
      541 cgtcaggact ggaagaagca caagctcgtg tgccagggca gcgagggcgc cctcggccac
      601 ggagtgggcc cacaccagca ttccggcccc gcgccgccgg ctgcagtgcc gccgcccagg
      661 gccggggccc gggagcccag gaaggcagcg gcgcgccggg acaacgcctc cggggacgcg
      721 gccaagggaa aagtaaaggc caagcccccg gccgacccag cggcggccgc gtcgccgtgt
      781 cgtgcggccg ccggcggcca gggctcggcg gtggctgccg aagccgagcc cggcaaggag
      841 gagccgccgg cccgctcatc gctgttccag gagaaggcga acctgtaccc cccaagcaac
      901 acgcccgggg atgcgctgag ccccggcggc ggcctgcggc ccaacgggca gacgaagccc
      961 ctgccggcgc tgaagctggc gctcgagtac atcgtgccgt gcatgaacaa gcacggcatc
     1021 tgtgtggtgg acgacttcct cggcaaggag accggacagc agatcggcga cgaggtgcgc
     1081 gccctgcacg acaccgggaa gttcacggac gggcagctgg tcagccagaa gagtgactcg
     1141 tccaaggaca tccgaggcga taagatcacc tggatcgagg gcaaggagcc cggctgcgaa
     1201 accattgggc tgctcatgag cagcatggac gacctgatac gccactgtaa cgggaagctg
     1261 ggcagctaca aaatcaatgg ccggacgaaa gccatggttg cttgttatcc gggcaatgga
     1321 acgggttatg tacgtcatgt tgataatcca aatggagatg gaagatgtgt gacatgtata
     1381 tattatctta ataaagactg ggatgccaag gtaagtggag gtatacttcg aatttttcca
     1441 gaaggcaaag cccagtttgc tgacattgaa cccaaatttg atagactgct gtttttctgg
     1501 tctgaccgtc gcaaccctca tgaagtacaa ccagcatatg ctacaaggta cgcaataact
     1561 gtttggtatt ttgatgcaga tgagagagca cgagctaaag taaaatatct aacaggtgaa
     1621 aaaggtgtga gggttgaact caataaacct tcagattcgg tcggtaaaga cgtcttctag
     1681 agcctttgat ccagcaatac cccacttcac ctacaatatt gttaactatt tgttaacttg
     1741 tgaatacgaa taaatgggat aaagaaaaat agacaaccag ttcgcatttt aataaggaaa
     1801 cagaaacaac tttttgtgtt gcatcaaaca gaagattttg actgctgtga ctttgtactg
     1861 catgatcaac ttcaaatctg tgattgctta caggaggaag ataagctact aattgaaaat
     1921 ggtttttaca tctggatatg aaataagtgc cctgtgtaga atttttttca ttcttatatt
     1981 ttgccagatc tgttatctag ctgagttcat ttcatctctc ccttttttat atcaagtttg
     2041 aatttgggat aatttttcta tattaggtac aatttatcta aactgaattg agaaaaaatt
     2101 acagtattat tcctcaaaat aacatcaatc tatttttgta aacctgttca tactattaaa
     2161 ttttgcccta aaagacctct taataatgat tgttgccagt gactgatgat taattttatt
     2221 ttacttaaaa taagaaaagg agcactttaa ttacaactga aaaatcagat tgttttgtag
     2281 tccttcctta cactaatttg aactgttaaa gattgctgct ttttttttga cattgtcaat
     2341 aacgaaacct aattgtaaaa cagtcaccat ttactaccaa taacttttag ttaatgtttt
     2401 acaaggaaaa agacacaaga agagtttaaa tttttttgtt ttgttttgtt tttttgagac
     2461 agtcttgctc tgttacccag gctggagggg agtggtgcat tcttggctca ctgcaacctc
     2521 cgcctcccag gttcaagcaa tcctcccacc tcagcctccc aactagctgg gactgcaggc
     2581 acacaccacc atgcctgact aatttttgta tgtttagtag agacggggtt ttgccatgtt
     2641 gcctaggctg gggtttaagt taaatttttt aaaaaactaa agtgactggc actaagtgaa
     2701 cttgagatta tcctcagctt caagttccta agataagggc tttcttaagc tttcaggtgt
     2761 atgtatcctc tagatgtaga caataatgtc ccatttctaa gtcttttcct tttgcttctc
     2821 cttaaattga ttgtacttcc aaatttgctg ttatgttttt ttcctaatac tgtgatctat
     2881 ctgatctgca gacaagaacc ttgtctctgt tgaagagcat caaggggaga ttatgtacac
     2941 attgaaactg aagtgtggtg ttactgacgg aatgtgcagt aactcctcag atatctgtta
     3001 aggcatttcc cagatgtgat gccagccttc ttacctgtac tgaaagatgc ttagcttaga
     3061 aaaaaacaaa acagatgcaa aatcagataa ttttattttg tttcatgggt tttcttattt
     3121 actttttaaa caaggaagga atattagaaa atcacacaag gcctcacata catgttattt
     3181 aaagaatgaa ttgggacgga tgtcttagac ttcactttcc taggcttttt agcaaaacct
     3241 aaagggtggt atccatattt tgcgtgaatt atgggtgtaa gaccttgccc acttaggttt
     3301 tctatctctg tccttgatct tctttgccaa aatgtgagta tacagaaatt ttctgtatat
     3361 ttcaacttaa gacattttta gcatctgtat agtttgtatt caatttgaga ccttttctat
     3421 gggaagctca gtaattttta ttaaaagatt gccattgcta ttcatgtaaa acatggaaaa
     3481 aaattgtgta gtgaagccaa cagtggactt aggatgggat tgaatgttca gtatagtgat
     3541 ctcacttagg agaatttgca ggagaaagtg atagtttatt gttttttcct cgcccatatt
     3601 cagttttgtt ctacttcctc cccttccttc cagatgataa catcacatct ctacagtaag
     3661 tgcctctgcc agcccaaccc aggagcgcaa gttgtctttg ccatctggtc tatagtacag
     3721 tgcgcggcgt taggccacaa ctcaaaagca ttatcttttt tagggttagt agaaattgtt
     3781 ttatgttgat gggaggtttg tttgattgtc aaaatgtaca gccacagcct tttaatttgg
     3841 gagcccctgt tgtcattcaa atgtgtacct ctacagttgt aaaaagtatt agattctact
     3901 atctgtgggt tgtgcttgcc agacaggtct taaattgtat attttttgga aaagtttata
     3961 tactctctta ggaatcattg tgaaaagatc aagaaatcag gatggccatt tatttaatat
     4021 ccattcattt catgttagtg ggactattaa cttgtcacca agcaggactc tatttcaaac
     4081 aaaatttaaa actgtttgtg gcctatatgt gtttaatcct ggttaaagat aaagcttcat
     4141 aatgctgttt ttattcaaca cattaaccag ctgtaaaaca cagaccttta tcaagagtag
     4201 gcaaagattt tcaggattca tatacagata gactataaag tcatgtaatt tgaaaagcag
     4261 tgtttcatta tgaaagagct ctcaagttgc ttgtaaagct aatctaatta aaaagatgta
     4321 taaatgttgt tgaaa
//
