LOCUS       NM_006579               1125 bp    mRNA    linear   PRI 16-FEB-2025
DEFINITION  Homo sapiens EBP cholestenol delta-isomerase (EBP), mRNA.
ACCESSION   NM_006579
VERSION     NM_006579.3
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 1125)
  AUTHORS   Yao,H., Cai,H. and Li,D.
  TITLE     Thermostabilization of Membrane Proteins by Consensus Mutation: A
            Case Study for a Fungal Delta8-7 Sterol Isomerase
  JOURNAL   J Mol Biol 432 (18), 5162-5183 (2020)
   PUBMED   32105736
  REMARK    GeneRIF: Thermostabilization of Membrane Proteins by Consensus
            Mutation: A Case Study for a Fungal Delta8-7 Sterol Isomerase.
REFERENCE   2  (bases 1 to 1125)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1125)
  AUTHORS   Cai,H., Yao,H., Li,T., Tang,Y. and Li,D.
  TITLE     High-level heterologous expression of the human transmembrane
            sterol Delta8,Delta7-isomerase in Pichia pastoris
  JOURNAL   Protein Expr Purif 164, 105463 (2019)
   PUBMED   31381990
  REMARK    GeneRIF: The human sterol delta(8)-Delta(7) isomerase was expressed
            in P. pastoris to 200mgL-1.  The membrane protein enzyme could be
            solubilized readily in dodecyl maltoside. The solubilized protein
            displayed a symmetric peak on size exclusion chromatography.
REFERENCE   4  (bases 1 to 1125)
  AUTHORS   Long,T., Hassan,A., Thompson,B.M., McDonald,J.G., Wang,J. and Li,X.
  TITLE     Structural basis for human sterol isomerase in cholesterol
            biosynthesis and multidrug recognition
  JOURNAL   Nat Commun 10 (1), 2452 (2019)
   PUBMED   31165728
  REMARK    GeneRIF: EBP adopts an unreported fold involving five
            transmembrane-helices (TMs) that creates a membrane cavity
            presenting a pharmacological binding site that accommodates
            multiple different ligands. Mutagenesis studies on specific
            residues abolish the isomerase activity and decrease the multidrug
            binding capacity.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1125)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 1125)
  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 1125)
  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   8  (bases 1 to 1125)
  AUTHORS   Schindelhauer,D., Hellebrand,H., Grimm,L., Bader,I., Meitinger,T.,
            Wehnert,M., Ross,M. and Meindl,A.
  TITLE     Long-range map of a 3.5-Mb region in Xp11.23-22 with a
            sequence-ready map from a 1.1-Mb gene-rich interval
  JOURNAL   Genome Res 6 (11), 1056-1069 (1996)
   PUBMED   8938429
REFERENCE   9  (bases 1 to 1125)
  AUTHORS   Hanner,M., Moebius,F.F., Weber,F., Grabner,M., Striessnig,J. and
            Glossmann,H.
  TITLE     Phenylalkylamine Ca2+ antagonist binding protein. Molecular
            cloning, tissue distribution, and heterologous expression
  JOURNAL   J Biol Chem 270 (13), 7551-7557 (1995)
   PUBMED   7706302
REFERENCE   10 (bases 1 to 1125)
  AUTHORS   Kumble,S. and Savarirayan,R.
  TITLE     Chondrodysplasia Punctata 2, X-Linked
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21634086
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CA488777.1, BC001572.1 and
            BC001549.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006579.2.
            
            Summary: The protein encoded by this gene is an integral membrane
            protein of the endoplasmic reticulum. It is a high affinity binding
            protein for the antiischemic phenylalkylamine Ca2+ antagonist
            [3H]emopamil and the photoaffinity label [3H]azidopamil. It is
            similar to sigma receptors and may be a member of a superfamily of
            high affinity drug-binding proteins in the endoplasmic reticulum of
            different tissues. This protein shares structural features with
            bacterial and eukaryontic drug transporting proteins. It has four
            putative transmembrane segments and contains two conserved
            glutamate residues which may be involved in the transport of
            cationic amphiphilics. Another prominent feature of this protein is
            its high content of aromatic amino acid residues (>23%) in its
            transmembrane segments. These aromatic amino acid residues have
            been suggested to be involved in the drug transport by the
            P-glycoprotein. Mutations in this gene cause Chondrodysplasia
            punctata 2 (CDPX2; also known as Conradi-Hunermann syndrome).
            [provided by RefSeq, Jul 2008].
            
            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 :: SRR5189652.191296.1,
                                           SRR5189658.116351.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000495186.6/ ENSP00000417052.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                CA488777.1         13-49
            38-131              BC001572.1         1-94
            132-1125            BC001549.1         94-1087
FEATURES             Location/Qualifiers
     source          1..1125
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..1125
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /note="EBP cholestenol delta-isomerase"
                     /db_xref="GeneID:10682"
                     /db_xref="HGNC:HGNC:3133"
                     /db_xref="MIM:300205"
     exon            1..100
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /inference="alignment:Splign:2.1.0"
     exon            101..474
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..866
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /EC_number="5.3.3.5"
                     /EC_number="3.3.2.11"
                     /note="3-beta-hydroxysteroid-delta-8,delta-7-isomerase;
                     sterol 8-isomerase; Chondrodysplasia punctata-2, X-linked
                     dominant (Happle syndrome); D8-D7 sterol isomerase;
                     cholestenol Delta-isomerase; delta(8)-Delta(7) sterol
                     isomerase; cholesterol-5,6-epoxide hydrolase subunit EBP;
                     emopamil-binding protein; emopamil binding protein (sterol
                     isomerase)"
                     /codon_start=1
                     /product="3-beta-hydroxysteroid-Delta(8),
                     Delta(7)-isomerase"
                     /protein_id="NP_006570.1"
                     /db_xref="CCDS:CCDS14300.1"
                     /db_xref="GeneID:10682"
                     /db_xref="HGNC:HGNC:3133"
                     /db_xref="MIM:300205"
                     /translation="MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVV
                     TTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWK
                     EYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIY
                     GDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTL
                     DAKATKAKSKKN"
     exon            475..511
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /inference="alignment:Splign:2.1.0"
     exon            512..642
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /inference="alignment:Splign:2.1.0"
     exon            643..1125
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1105..1110
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /note="hexamer: AATAAA"
     polyA_site      1125
                     /gene="EBP"
                     /gene_synonym="CDPX2; CHO2; CPX; CPXD; MEND"
                     /note="major polyA site"
ORIGIN      
        1 actaggggat gagcccgaac tagggatgtg acagagcgcg agacccagcc taaagagagc
       61 ccggagccag cgtgggaggc cgctgccgtc gcgcgccttg gtttttctgt tccttttttt
      121 tttttttttt taacttcctg cctatacaca cgcagccatc agcccacaaa gacatgacta
      181 ccaacgcggg ccccttgcac ccatactggc ctcagcacct aagactggac aactttgtac
      241 ctaatgaccg ccccacctgg catatactgg ctggcctctt ctctgtcaca ggggtcttag
      301 tcgtgaccac atggctgttg tcaggtcgtg ctgcggttgt cccattgggg acttggcggc
      361 gactgtccct gtgctggttt gcagtgtgtg ggttcattca cctggtgatc gagggctggt
      421 tcgttctcta ctacgaagac ctgcttggag accaagcctt cttatctcaa ctctggaaag
      481 agtatgccaa gggagacagc cgatacatcc tgggtgacaa cttcacagtg tgcatggaaa
      541 ccatcacagc ttgcctgtgg ggaccactca gcctgtgggt ggtgatcgcc tttctccgcc
      601 agcatcccct ccgcttcatt ctacagcttg tggtctctgt gggccagatc tatggggatg
      661 tgctctactt cctgacagag caccgcgacg gattccagca cggagagctg ggccaccctc
      721 tctacttctg gttttacttt gtcttcatga atgccctgtg gctggtgctg cctggagtcc
      781 ttgtgcttga tgctgtgaag cacctcactc atgcccagag cacgctggat gccaaggcca
      841 caaaagccaa gagcaagaag aactgaggag tggtggacca ggctcgaaca ctggccgagg
      901 aggagctctc tgcctgccag aagagtctag tcctgctccc acagtttgga gggacaaagc
      961 taattgatct gtcacactca ggctcatggg caggcacaag aaggggaata aaggggctgt
     1021 gtgaaggcac tgctgggagc cattagaaca cagatacaag agaagccagg aggtctatga
     1081 tggtgacgat ttttaaaatc aggaaataaa agatcttgac tctaa
//
