LOCUS       NP_031924                230 aa            linear   ROD 27-APR-2025
DEFINITION  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase [Mus musculus].
ACCESSION   NP_031924
VERSION     NP_031924.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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  (residues 1 to 230)
  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 (residues 1 to 230)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..230
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 3.7 cM"
     Protein         1..230
                     /product="3-beta-hydroxysteroid-Delta(8),
                     Delta(7)-isomerase"
                     /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"
                     /calculated_mol_wt=26084
     Site            2
                     /site_type="acetylation"
                     /note="N-acetylthreonine. /evidence=ECO:0000269|Ref.4;
                     propagated from UniProtKB/Swiss-Prot (P70245.3)"
     Site            29..49
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P70245.3)"
     Site            66..86
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P70245.3)"
     Region          96..207
                     /region_name="EBP"
                     /note="EXPERA (EXPanded EBP superfamily); pfam05241"
                     /db_xref="CDD:461600"
     Site            121..141
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P70245.3)"
     Site            185..205
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P70245.3)"
     CDS             1..230
                     /gene="Ebp"
                     /gene_synonym="mSI; Pabp; SI; Td"
                     /coded_by="NM_007898.3:770..1462"
                     /db_xref="CCDS:CCDS29989.1"
                     /db_xref="GeneID:13595"
                     /db_xref="MGI:MGI:107822"
ORIGIN      
        1 mttntvplhp ywprhlkldn fvpndlptsh ilvglfsisg glivitwlls srasvvplga
       61 grrlalcwfa vctfihlvie gwfslyngil ledqaflsql wkeyskgdsr yilsdsfvvc
      121 metvtaclwg plslwvviaf lrqqpfrfvl qlvvsmgqiy gdvlyfltel heglqhgeig
      181 hpvyfwfyfv flnavwlvip silvldaikh ltsaqsvlds kvmkikskhn
//
