LOCUS       NM_007898               1757 bp    mRNA    linear   ROD 16-FEB-2025
DEFINITION  Mus musculus EBP cholestenol delta-isomerase (Ebp), mRNA.
ACCESSION   NM_007898
VERSION     NM_007898.3
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 1757)
  AUTHORS   Jin,X., Xu,Z., Cao,J., Yan,R., Xu,R., Ran,R., Ma,Y., Cai,W.,
            Fan,R., Zhang,Y., Zhou,X. and Li,Y.
  TITLE     HO-1/EBP interaction alleviates cholesterol-induced hypoxia through
            the activation of the AKT and Nrf2/mTOR pathways and inhibition of
            carbohydrate metabolism in cardiomyocytes
  JOURNAL   Int J Mol Med 39 (6), 1409-1420 (2017)
   PUBMED   28487965
  REMARK    GeneRIF: These findings indicate that the HO-1/EBP interaction
            plays a protective role in alleviating the dysfunction of oxidative
            stress and cardiac systolic function induced by cholesterol
            stimulation.
REFERENCE   2  (bases 1 to 1757)
  AUTHORS   Sisecioglu,M., Budak,H., Geffers,L., Cankaya,M., Ciftci,M.,
            Thaller,C., Eichele,G., Kufrevioglu,O.I. and Ozdemir,H.
  TITLE     A compendium of expression patterns of cholesterol biosynthetic
            enzymes in the mouse embryo
  JOURNAL   J Lipid Res 56 (8), 1551-1559 (2015)
   PUBMED   26108225
REFERENCE   3  (bases 1 to 1757)
  AUTHORS   Brommage,R., Liu,J., Hansen,G.M., Kirkpatrick,L.L., Potter,D.G.,
            Sands,A.T., Zambrowicz,B., Powell,D.R. and Vogel,P.
  TITLE     High-throughput screening of mouse gene knockouts identifies
            established and novel skeletal phenotypes
  JOURNAL   Bone Res 2, 14034 (2014)
   PUBMED   26273529
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1757)
  AUTHORS   Evsikov,A.V., Graber,J.H., Brockman,J.M., Hampl,A., Holbrook,A.E.,
            Singh,P., Eppig,J.J., Solter,D. and Knowles,B.B.
  TITLE     Cracking the egg: molecular dynamics and evolutionary aspects of
            the transition from the fully grown oocyte to embryo
  JOURNAL   Genes Dev 20 (19), 2713-2727 (2006)
   PUBMED   17015433
REFERENCE   5  (bases 1 to 1757)
  AUTHORS   Seo,K.W., Kon,Y. and Watanabe,T.
  TITLE     Embryonic hematopoiesis defect in the tattered-Hokkaido (Tdho)
            mouse
  JOURNAL   Comp Med 50 (1), 27-31 (2000)
   PUBMED   10987663
REFERENCE   6  (bases 1 to 1757)
  AUTHORS   Derry,J.M., Gormally,E., Means,G.D., Zhao,W., Meindl,A.,
            Kelley,R.I., Boyd,Y. and Herman,G.E.
  TITLE     Mutations in a delta 8-delta 7 sterol isomerase in the tattered
            mouse and X-linked dominant chondrodysplasia punctata.
            jderry@immunex.com
  JOURNAL   Nat Genet 22 (3), 286-290 (1999)
   PUBMED   10391218
REFERENCE   7  (bases 1 to 1757)
  AUTHORS   Seo,K.W., Miyoshi,H., Kon,Y. and Watanabe,T.
  TITLE     Chromosomal mapping and developmental study of Tattered-Hokkaido
            (Tdho)
  JOURNAL   Mamm Genome 8 (8), 578-580 (1997)
   PUBMED   9250864
REFERENCE   8  (bases 1 to 1757)
  AUTHORS   Uwechue,I.C., Cooper,B.F., Goble,C., Hacker,T., Blair,H.J.,
            Burke,D.T., Herman,G. and Boyd,Y.
  TITLE     The mouse X-linked developmental mutant, tattered, lies between
            DXMit55 and Xkh and is associated with hyperkeratinization
  JOURNAL   Genomics 37 (2), 238-241 (1996)
   PUBMED   8921395
REFERENCE   9  (bases 1 to 1757)
  AUTHORS   Silve,S., Dupuy,P.H., Labit-Lebouteiller,C., Kaghad,M., Chalon,P.,
            Rahier,A., Taton,M., Lupker,J., Shire,D. and Loison,G.
  TITLE     Emopamil-binding protein, a mammalian protein that binds a series
            of structurally diverse neuroprotective agents, exhibits
            delta8-delta7 sterol isomerase activity in yeast
  JOURNAL   J Biol Chem 271 (37), 22434-22440 (1996)
   PUBMED   8798407
REFERENCE   10 (bases 1 to 1757)
  AUTHORS   Merrell,K., Gonzales,J.C., Wells,S., Calame,K. and Herman,G.E.
  TITLE     Genetic analyses of tattered, an X-linked dominant, developmental
            mouse mutation
  JOURNAL   Mamm Genome 6 (4), 291-294 (1995)
   PUBMED   7613037
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL663032.9, AK027977.1 and
            DV661455.1.
            
            On May 7, 2015 this sequence version replaced NM_007898.2.
            
            Summary: This gene encodes a transmembrane protein that localizes
            to the endoplasmic reticulum. This protein catalyses the conversion
            of delta8 to delta7 sterols, an important step in sterol
            biosynthesis. Mutations in this gene are responsible for the mouse
            tattered mutant phenotype. Tattered males are embryonic lethal,
            while heterozygous females have developmental defects. Deficiency
            of the related gene in human causes X-linked dominant
            chondrodysplasia punctata. [provided by RefSeq, May 2015].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC004703.1, X97755.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-639               AL663032.9         145246-145884       c
            640-1515            AK027977.1         2-877
            1516-1757           DV661455.1         480-721
FEATURES             Location/Qualifiers
     source          1..1757
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 3.7 cM"
     gene            1..1757
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /note="EBP cholestenol delta-isomerase"
                     /db_xref="GeneID:13595"
                     /db_xref="MGI:MGI:107822"
     exon            1..712
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /inference="alignment:Splign:2.1.0"
     exon            713..1070
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /inference="alignment:Splign:2.1.0"
     CDS             770..1462
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /EC_number="5.3.3.5"
                     /EC_number="3.3.2.11"
                     /note="D8-D7 sterol isomerase; cholestenol
                     Delta-isomerase; delta(8)-Delta(7) sterol isomerase;
                     tattered; phenylalkylamine Ca2+ antagonist (emopamil)
                     binding protein; cholesterol-5,6-epoxide hydrolase subunit
                     EBP"
                     /codon_start=1
                     /product="3-beta-hydroxysteroid-Delta(8),
                     Delta(7)-isomerase"
                     /protein_id="NP_031924.1"
                     /db_xref="CCDS:CCDS29989.1"
                     /db_xref="GeneID:13595"
                     /db_xref="MGI:MGI:107822"
                     /translation="MTTNTVPLHPYWPRHLKLDNFVPNDLPTSHILVGLFSISGGLIV
                     ITWLLSSRASVVPLGAGRRLALCWFAVCTFIHLVIEGWFSLYNGILLEDQAFLSQLWK
                     EYSKGDSRYILSDSFVVCMETVTACLWGPLSLWVVIAFLRQQPFRFVLQLVVSMGQIY
                     GDVLYFLTELHEGLQHGEIGHPVYFWFYFVFLNAVWLVIPSILVLDAIKHLTSAQSVL
                     DSKVMKIKSKHN"
     exon            1071..1107
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /inference="alignment:Splign:2.1.0"
     exon            1108..1238
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..1743
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1720..1725
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /note="hexamer: AATAAA"
     polyA_site      1741
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /note="major polyA site"
ORIGIN      
        1 tgcctactgg tccgtaggta ataattaaaa tgacagtttg agatgatcaa tattctgact
       61 aaatgctgac gaggtctgtt tgccaacttg tttaccgtca tgccttctgt ttggctttta
      121 agaactggca ctgttgagag tctacaccaa ctgctcagca ggagtgaggg tttgaaggtg
      181 accgatgctg ttaggactgg agagttctga gctctggtgg gcgctaggtt tgtttgtact
      241 gaatgtaatc cacctgtcgt attctctgca tttgggctaa gaatgggtcc gggaactgat
      301 tggttgccta gaaaacttag aagaccacgc aactccggtc actagcaaat gttgagggtt
      361 tcaaatttca gcctcatctt gtgcgattga taagagggca gggaaattga agctcagaat
      421 agcatagatt tgctatcggg agaaagcgcc cacagacctt ggaggtctcc accctactcc
      481 tgacttggtc tcagccaaca gggaagatga caccataggc gaggacaggg cctgcgacat
      541 tcggaggact cctattggca gaagccacct tctccacttc actattggtc cgctccatcg
      601 ggcggggaag cgctagagct gagcggaact ggggctatta gggagcctgc aggtcttcct
      661 ggaaagtcgc aagcctgtgt taggaagtcg ccctgcgatc gcgccgcctg gggtttttct
      721 gtccctttgt cctcgtttat gtacgaagct gccagcgggc catagaaaca tgaccaccaa
      781 tacggtcccc ttgcacccgt actggcccag gcacctgaag ctggacaact tcgtgcctaa
      841 tgacctcccg acttcgcata tcctggttgg cctcttctcc atctctgggg gcctaattgt
      901 gatcacgtgg ctgttgtcta gccgagcttc cgtcgtccca cttggagctg ggcggcgact
      961 ggccttgtgc tggtttgctg tgtgtacctt cattcacctt gtgatcgagg gctggttctc
     1021 tctctacaat ggcatccttt tagaagacca agccttctta tcccaactct ggaaagagta
     1081 ttccaaggga gatagccgat atatccttag tgacagcttc gtcgtctgta tggagactgt
     1141 cacagcttgt ctctggggac cactcagcct atgggtagtg attgcctttc tccgccaaca
     1201 gcccttccgc tttgtcctac agcttgtggt gtctatgggc cagatatacg gggatgtgct
     1261 gtacttcctg acagagctac acgaaggact ccagcatggg gagataggcc accccgttta
     1321 tttctggttc tattttgttt tcctgaatgc tgtatggttg gtgataccaa gcatccttgt
     1381 gcttgatgcc ataaagcatc tcactagtgc ccagagcgtg ctggacagca aagtcatgaa
     1441 aattaagagc aagcataact aaagagccgg agagtgggct gagtccctgc tgatgaggcg
     1501 ctctcctcac ttcccagaag actcaaatct tcttcctcct cgcacaggtt gggggggtca
     1561 gaactatcgg acttgtccca ctcaaacatg atgagtgagc acacaaaggg ccagagtcag
     1621 aaaaggaagg gaacaagttg agctactgct aggaacctga gggaaaagat ggatgagaag
     1681 gtggcaagtc cgtgacggtg gcaacttccc aaaccaggaa ataaaatgtc ttttactata
     1741 acaaaaaaaa aaaaaaa
//
