LOCUS       NM_053207               3595 bp    mRNA    linear   ROD 16-OCT-2024
DEFINITION  Mus musculus egl-9 family hypoxia-inducible factor 1 (Egln1),
            transcript variant 1, mRNA.
ACCESSION   NM_053207
VERSION     NM_053207.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3595)
  AUTHORS   Li,M., Jin,H., Zhao,Y., Zhu,G., Liu,Y., Long,H. and Shen,X.
  TITLE     PHD2 safeguards modest mesendoderm development
  JOURNAL   Commun Biol 7 (1), 1100 (2024)
   PUBMED   39244636
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3595)
  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   3  (bases 1 to 3595)
  AUTHORS   Prange-Barczynska,M., Jones,H.A., Sugimoto,Y., Cheng,X., Lima,J.D.,
            Ratnayaka,I., Douglas,G., Buckler,K.J., Ratcliffe,P.J., Keeley,T.P.
            and Bishop,T.
  TITLE     Hif-2alpha programs oxygen chemosensitivity in chromaffin cells
  JOURNAL   J Clin Invest 134 (18), e174661 (2024)
   PUBMED   39106106
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3595)
  AUTHORS   Pan,L., He,X., Xu,R., Bhattarai,U., Niu,Z., do Carmo,J., Sun,Y.,
            Zeng,H., Clemmer,J.S., Chen,J.X. and Chen,Y.
  TITLE     Endothelial specific prolyl hydroxylase domain-containing protein 2
            deficiency attenuates aging-related obesity and exercise
            intolerance
  JOURNAL   Geroscience 46 (4), 3945-3956 (2024)
   PUBMED   38462569
  REMARK    GeneRIF: Endothelial specific prolyl hydroxylase domain-containing
            protein 2 deficiency attenuates aging-related obesity and exercise
            intolerance.
REFERENCE   5  (bases 1 to 3595)
  AUTHORS   Nolan,N.D., Cui,X., Robbings,B.M., Demirkol,A., Pandey,K., Wu,W.H.,
            Hu,H.F., Jenny,L.A., Lin,C.S., Hass,D.T., Du,J., Hurley,J.B. and
            Tsang,S.H.
  TITLE     CRISPR editing of anti-anemia drug target rescues independent
            preclinical models of retinitis pigmentosa
  JOURNAL   Cell Rep Med 5 (4), 101459 (2024)
   PUBMED   38518771
REFERENCE   6  (bases 1 to 3595)
  AUTHORS   Lieb,M.E., Menzies,K., Moschella,M.C., Ni,R. and Taubman,M.B.
  TITLE     Mammalian EGLN genes have distinct patterns of mRNA expression and
            regulation
  JOURNAL   Biochem Cell Biol 80 (4), 421-426 (2002)
   PUBMED   12234095
REFERENCE   7  (bases 1 to 3595)
  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 3595)
  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 3595)
  AUTHORS   Murphy,D., Xu,J. and Waller,S.
  TITLE     Transgenic studies in rats and mice on the osmotic regulation of
            vasopressin gene expression
  JOURNAL   Exp Physiol 85 Spec No, 211S-222S (2000)
   PUBMED   10795925
  REMARK    Review article
REFERENCE   10 (bases 1 to 3595)
  AUTHORS   Moschella,M.C., Menzies,K., Tsao,L., Lieb,M.A., Kohtz,J.D.,
            Kohtz,D.S. and Taubman,M.B.
  TITLE     SM-20 is a novel growth factor-responsive gene regulated during
            skeletal muscle development and differentiation
  JOURNAL   Gene Expr 8 (1), 59-66 (1999)
   PUBMED   10543731
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC139158.3.
            
            On Jan 31, 2022 this sequence version replaced NM_053207.2.
            
            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 :: AJ310546.1, SRR7652917.600382.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1092              AC139158.3         50991-52082
            1093-1212           AC139158.3         84535-84654
            1213-1349           AC139158.3         86162-86298
            1350-1417           AC139158.3         88507-88574
            1418-3595           AC139158.3         89552-91729
FEATURES             Location/Qualifiers
     source          1..3595
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 72.86 cM"
     gene            1..3595
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /note="egl-9 family hypoxia-inducible factor 1"
                     /db_xref="GeneID:112405"
                     /db_xref="MGI:MGI:1932286"
     exon            1..1092
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /inference="alignment:Splign:2.1.0"
     CDS             271..1473
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /EC_number="1.14.11.29"
                     /note="isoform 1 is encoded by transcript variant 1;
                     prolyl hydroxylase domain-containing protein 2; HIF-prolyl
                     hydroxylase 2; hypoxia-inducible factor prolyl hydroxylase
                     2"
                     /codon_start=1
                     /product="egl nine homolog 1 isoform 1"
                     /protein_id="NP_444437.2"
                     /db_xref="CCDS:CCDS52706.1"
                     /db_xref="GeneID:112405"
                     /db_xref="MGI:MGI:1932286"
                     /translation="MASDSGGPGVLSASERDRQYCELCGKMENLLRCGRCRSSFYCCK
                     EHQRQDWKKHKLVCQGGEAPRAQPAPAQPRVAPPPGGAPGAARAGGAARRGDSAAASR
                     VPGPEDAAQARSGPGPAEPGSEDPPLSRSPGPERASLCPAGGGPGEALSPGGGLRPNG
                     QTKPLPALKLALEYIVPCMNKHGICVVDDFLGRETGQQIGDEVRALHDTGKFTDGQLV
                     SQKSDSSKDIRGDQITWIEGKEPGCETIGLLMSSMDDLIRHCSGKLGNYRINGRTKAM
                     VACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDWDAKVSGGILRIFPEGKAQFADIE
                     PKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELK
                     PNSVSKDV"
     exon            1093..1212
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1349
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1417
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /inference="alignment:Splign:2.1.0"
     exon            1418..3595
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1943..1948
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /note="hexamer: ATTAAA"
     polyA_site      1972
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /note="major polyA site"
     regulatory      3572..3577
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /note="hexamer: TATAAA"
     polyA_site      3595
                     /gene="Egln1"
                     /gene_synonym="C1orf12; Hif-p4h-2; HIF-PH2; HPH-2; ORF13;
                     Phd2; SM-20"
                     /note="major polyA site"
ORIGIN      
        1 gtacgtgcag cgcgcgcgga gcgagtggcg cccgcaggcc cgcgccctgc ccgcccgccc
       61 cgacgcagcc ggctgggccc gcccgcccag ggcgctgtgc gccgcgcagg ccgcgctctc
      121 tccggcgcga tgcggcgcta ggcggccccg ggcaaggcag gcgaggccag ggcgcgcgcg
      181 gcctcccgca gcgggcggcg gccccgggcg ggcgccccga cggccccgcc gccgccccgc
      241 tcccggcccg cggcccgccc tgccgcggcc atggccagtg acagcggcgg gcccggcgtg
      301 ctgagcgcca gcgagcgcga ccggcagtac tgcgagctgt gcgggaagat ggagaacctg
      361 ctgcgctgcg gccgctgccg cagctccttc tactgctgca aagagcacca gcgccaggac
      421 tggaagaagc acaagctggt gtgccagggc ggcgaggccc cccgcgcgca gcccgcgccg
      481 gcgcagcccc gcgtcgcgcc cccgcccggt ggggcccccg gagccgcgcg cgccggcggg
      541 gcggcccggc gcggggacag cgcggcggcc tcgcgcgtac cgggcccgga ggacgcggcg
      601 caggcccgga gcggccccgg cccagcagag cccggctccg aggatcctcc gcttagccgg
      661 tctccgggcc ccgagcgcgc cagcctgtgc ccagcgggtg gcggccccgg ggaggcgctg
      721 agtcccggtg gagggctgcg gcccaacggg cagaccaagc cgttgcccgc gttgaagctg
      781 gctctggagt acatcgtgcc gtgcatgaac aagcacggca tctgcgtggt ggacgacttc
      841 ctgggcaggg agaccgggca gcagatcggc gatgaggtgc gcgccctgca cgacaccggc
      901 aagttcacgg acgggcagct ggtcagccag aagagtgact cttccaagga catccggggg
      961 gaccagatca cctggatcga gggcaaagag cccggctgcg aaaccatcgg cctgctcatg
     1021 agcagcatgg acgacctgat ccgccactgc agcgggaagc tgggcaacta caggataaac
     1081 ggccgaacga aagccatggt tgcttgttac ccaggcaacg gaacaggcta tgtccgtcac
     1141 gttgataacc caaatggaga tggaagatgc gtgacatgta tatattatct aaataaagac
     1201 tgggacgcca aggtaagtgg aggtattctt cgaatttttc cagaaggcaa agcccagttt
     1261 gctgacattg aacccaaatt tgatagactg ctgtttttct ggtctgaccg gcgtaaccct
     1321 catgaagtac agccagcata cgccacaagg tacgcaataa ctgtttggta ttttgatgca
     1381 gatgagcgag cgagagctaa agtaaaatat ctaacaggtg agaaaggtgt gagggttgaa
     1441 ctcaagccca attcagtcag caaagacgtc tagtggggcc ttgggtccgg cagtacccac
     1501 gtcacctaca gcctctcagt tgccttctgt ggactcgtgg acaggatgga cagagagaca
     1561 cctgcctggt atttcagctg ggagccaggc gacttcgccg ggtgtcatcc aacagagggc
     1621 tccatctgct gggactgtac tgtggggtca gctccagatc tgtgactgct cttggctgct
     1681 gacccaagag gagacgctgt cggaggagag tagcttttcc atctggacac gaaacaaggg
     1741 ccctttgtag gaatttcttc agtcttctat tttgccagac ctgtcaccta actgagttca
     1801 tttcatctct tttttatatc aagttttgaa ttcggggaat ttttgtatta ggtacaattt
     1861 atcaaaactg aattaagaaa aaaaaattta cagtattatt ctcaaaataa catcaatcta
     1921 tttttgtaaa cctcttcatg ctattaaatt ttgccctcaa ggcctcctgc gatgattgtt
     1981 gccagtgagt gacgacgtgt tgcttctgcc tgaacgtaaa ggacgggcgg gcgctgtgtc
     2041 ccagcccgag tgcacgaggt ttttcttggc ccgtctctca gtgattccaa cctgtaaagg
     2101 tcactgctct cgcgcttcga ccgacctaac agtagatggt tgccactggc actcaactaa
     2161 ctcaacatag ttacaagagg aaacaagcca caggagaggg tttgtctctt cagttaattt
     2221 ttttaaagcg aagtgacggg cactaaatga actcggggct ctccctcagc ttcgggttcc
     2281 tgagacaaag ggctttcttc tgcggcaggt ctagcctgcc tacagccgtg tcccactgcc
     2341 gcaggtttcc ttgtggcttc tccgtagttt tgactgtgct tccagaccct tccaggtcag
     2401 ggctgtgttc ttgtggcagg gcacctggtg gacccaggca cgtgaatgtg gtatgtggtt
     2461 gtagcctcaa tcgtggccat cggctccttg gacagccacg agccattttc atacccaata
     2521 atgaaagctg tgtgctagct tagaaatcaa agggggtgta aaagcacaca ttctttgttt
     2581 tatgggtttt tctcttttta gaggacagag ggacaaccac acgaggctgc cagactcctg
     2641 tcacctctac agtcccctta gaaagccaga gtttgcacag attgtgggta taactcctgt
     2701 ccccttaggt gttctatctc cgaccttgat ctttgccaaa atgtgtgtat gcagaactat
     2761 ttctgtgtat tttccttgac acccgtctta gcacctgtgt agtttgtatc cggttagaaa
     2821 ccttttctat ggaaagctca gtaattctta ttaagagatt gctattgttc atgtaaaaca
     2881 tgaaaacaac caagtagagc cgtgtgtgga tgagggccca ctcagcactg tgcttgcttg
     2941 aggggctctc ggcaggaagt ctccttctga cccatatccg ctgaccacac ctctccagca
     3001 agtgcctctg ccgctggcca gctcaaggtt tgcccacctg gccccgaagc accgtgtttc
     3061 ggagttggga ggaactgttt ggcattgttg gcagaaggtg tgattgcctg gagcagcagc
     3121 cttttaaatt ctggagaccc tgtagtcctt tgtatctcag acctttactg atgtaccagg
     3181 tcccagattc tgtggcaggg gatggggtgg ggtgtgcttg ccagacgaaa tttaaattat
     3241 ctatcttttg ggaagtgtgt gctttcctgg aggtcactgt gaaaacaaac aaacaaatca
     3301 ggaccgttaa ccccttaatg cccacttaaa ctcaatttca tgttaggact cttgtttaaa
     3361 accatttgtg gcctgtatgt gttcatcctg gttagagaga aagctttatg acgctgtttc
     3421 tgttcaacac attaaccagc tgtggaacag ccctttttgc acgacaggca gggcacttca
     3481 ggattcgcag agagactcgt gtggtttgga agtggtattt cctatgaaag cctctcacgt
     3541 tgcttgtaaa gctaatctaa ttaaaaagat gtataaatgt tcttgaaaaa aatca
//
