LOCUS       NM_057137               1071 bp    mRNA    linear   ROD 16-FEB-2025
DEFINITION  Rattus norvegicus EBP, cholestenol delta-isomerase (Ebp), mRNA.
ACCESSION   NM_057137
VERSION     NM_057137.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1071)
  AUTHORS   Waterham,H.R.
  TITLE     Defects of cholesterol biosynthesis
  JOURNAL   FEBS Lett 580 (23), 5442-5449 (2006)
   PUBMED   16876788
  REMARK    Review article
REFERENCE   2  (bases 1 to 1071)
  AUTHORS   Herman,G.E.
  TITLE     Disorders of cholesterol biosynthesis: prototypic metabolic
            malformation syndromes
  JOURNAL   Hum Mol Genet 12 Spec No 1, R75-R88 (2003)
   PUBMED   12668600
  REMARK    Review article
REFERENCE   3  (bases 1 to 1071)
  AUTHORS   Bae,S., Seong,J. and Paik,Y.
  TITLE     Cholesterol biosynthesis from lanosterol: molecular cloning,
            chromosomal localization, functional expression and liver-specific
            gene regulation of rat sterol delta8-isomerase, a cholesterogenic
            enzyme with multiple functions
  JOURNAL   Biochem J 353 (Pt 3), 689-699 (2001)
   PUBMED   11171067
REFERENCE   4  (bases 1 to 1071)
  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   5  (bases 1 to 1071)
  AUTHORS   Dussossoy,D., Carayon,P., Belugou,S., Feraut,D., Bord,A.,
            Goubet,C., Roque,C., Vidal,H., Combes,T., Loison,G. and Casellas,P.
  TITLE     Colocalization of sterol isomerase and sigma(1) receptor at
            endoplasmic reticulum and nuclear envelope level
  JOURNAL   Eur J Biochem 263 (2), 377-386 (1999)
   PUBMED   10406945
REFERENCE   6  (bases 1 to 1071)
  AUTHORS   Braverman,N., Lin,P., Moebius,F.F., Obie,C., Moser,A.,
            Glossmann,H., Wilcox,W.R., Rimoin,D.L., Smith,M., Kratz,L.,
            Kelley,R.I. and Valle,D.
  TITLE     Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta
            7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
  JOURNAL   Nat Genet 22 (3), 291-294 (1999)
   PUBMED   10391219
REFERENCE   7  (bases 1 to 1071)
  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   8  (bases 1 to 1071)
  AUTHORS   Moebius,F.F., Soellner,K.E., Fiechtner,B., Huck,C.W., Bonn,G. and
            Glossmann,H.
  TITLE     Histidine77, glutamic acid81, glutamic acid123, threonine126,
            asparagine194, and tryptophan197 of the human emopamil binding
            protein are required for in vivo sterol delta 8-delta 7
            isomerization
  JOURNAL   Biochemistry 38 (3), 1119-1127 (1999)
   PUBMED   9894009
REFERENCE   9  (bases 1 to 1071)
  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
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF071501.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF071501.1, FQ112249.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132262
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1071
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="Sprague-Dawley"
                     /db_xref="taxon:10116"
                     /chromosome="X"
                     /map="Xq12"
     gene            1..1071
                     /gene="Ebp"
                     /note="EBP, cholestenol delta-isomerase"
                     /db_xref="GeneID:117278"
                     /db_xref="RGD:620957"
     exon            1..44
                     /gene="Ebp"
                     /inference="alignment:Splign:2.1.0"
     exon            45..403
                     /gene="Ebp"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..795
                     /gene="Ebp"
                     /EC_number="5.3.3.5"
                     /EC_number="3.3.2.11"
                     /note="sterol 8-isomerase; D8-D7 sterol isomerase;
                     emopamil-binding protein; emopamil binding protein (sterol
                     isomerase); cholestenol Delta-isomerase; delta(8)-Delta(7)
                     sterol isomerase; 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_476478.1"
                     /db_xref="GeneID:117278"
                     /db_xref="RGD:620957"
                     /translation="MTTNMLPLHPYWPRHLRLDNFVPNDLPTWHILVGLFSFSGVLIV
                     ITWLLSSRVSVVPLGTGRRLALCWFAVCTFIHLVIEGWFSFYHEILLEDQAFLSQLWK
                     EYSKGDSRYILSDGFIVCMESVTACLWGPLSLWVVIAFLRHQPFRFVLQLVVSVGQIY
                     GDVLYFLTELRDGFQHGELGHPLYFWFYFVIMNAIWLVIPGILVFDAIKHLTNAQSML
                     DNKVMKIKSKHN"
     exon            404..440
                     /gene="Ebp"
                     /inference="alignment:Splign:2.1.0"
     exon            441..571
                     /gene="Ebp"
                     /inference="alignment:Splign:2.1.0"
     exon            572..1055
                     /gene="Ebp"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gcaagccagt gttaggaagt cgccccgtga tcgcgccgcc ttgggttttt ctgttctttt
       61 tttctctgtt tatgtgcaaa gctgccagca gcccatagaa acatgaccac caatatgctc
      121 cccttacacc cgtactggcc caggcacctg agactggaca acttcgtgcc taatgacctc
      181 ccgacttggc atatcctggt tggcctattc tccttctctg gggtcctaat tgtgatcacg
      241 tggctgttgt ctagccgagt ttctgttgtc ccacttggaa ctgggcgtcg actggccctg
      301 tgctggtttg ctgtgtgcac attcattcac cttgtgatcg agggctggtt ctctttctac
      361 catgaaatcc ttctcgaaga ccaagccttc ttatcccaac tctggaaaga atattccaag
      421 ggagacagcc gatatatcct tagtgatggc ttcatcgtct gtatggagag tgtcacagct
      481 tgtctctggg gaccactcag cctatgggtg gtgatcgcct ttctccgtca tcaacccttc
      541 cgctttgtcc tacagcttgt ggtgtctgtg ggccagatat atggggatgt gctgtacttc
      601 ctgaccgagc tccgcgatgg attccagcat ggagagctag gtcaccccct ttatttctgg
      661 ttttacttcg ttatcatgaa tgccatatgg ttggtgatac cgggcatcct tgtgtttgat
      721 gccatcaagc atctcacaaa cgctcagagc atgctggaca acaaagtcat gaaaattaag
      781 agcaagcata actaaagaga cggagagtga gctgagacct gtctgaggag gcgctctccc
      841 cgcttaccag aagactcgaa tcctcctcct cctcttcctc cttctcctcg aacagttttg
      901 gagggtcaga gctatgggat ttgccacact caaagggcca gagtcagaaa aggtagggaa
      961 catgcggagc tactgccagg gaccatagag aaagggtgga agagaagatg ggaagtccct
     1021 gtccaaaacc aggaaataaa acgtctttaa ctataaaaaa aaaaaaaaaa a
//
