2024-04-26 21:49:33, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_006579 1191 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens emopamil binding protein (sterol isomerase) (EBP), mRNA. ACCESSION NM_006579 VERSION NM_006579.2 GI:169808388 KEYWORDS RefSeq. 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 1191) AUTHORS Canueto,J., Giros,M., Ciria,S., Pi-Castan,G., Artigas,M., Garcia-Dorado,J., Garcia-Patos,V., Viros,A., Vendrell,T., Torrelo,A., Hernandez-Martin,A., Martin-Hernandez,E., Garcia-Silva,M.T., Fernandez-Burriel,M., Rosell,J., Tejedor,M., Martinez,F., Valero,J., Garcia,J.L., Sanchez-Tapia,E.M., Unamuno,P. and Gonzalez-Sarmiento,R. TITLE Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature JOURNAL Br. J. Dermatol. 166 (4), 830-838 (2012) PUBMED 22121851 REMARK GeneRIF: Results show a clear relationship between abnormal sterol profile and the EBP gene mutation Review article REFERENCE 2 (bases 1 to 1191) AUTHORS Morice-Picard,F., Kostrzewa,E., Wolf,C., Benlian,P., Taieb,A. and Lacombe,D. TITLE Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation JOURNAL Arch Dermatol 147 (9), 1073-1076 (2011) PUBMED 21931045 REMARK GeneRIF: postzygotic mosaicism on an ichthyosiform skin lesion in the mother of a girl with X-linked dominant chondrodysplasia punctata associated with a novel EBP mutation. REFERENCE 3 (bases 1 to 1191) AUTHORS Lu,Y., Dolle,M.E., Imholz,S., van 't Slot,R., Verschuren,W.M., Wijmenga,C., Feskens,E.J. and Boer,J.M. TITLE Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations JOURNAL J. Lipid Res. 49 (12), 2582-2589 (2008) PUBMED 18660489 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 4 (bases 1 to 1191) AUTHORS Ausavarat,S., Tanpaiboon,P., Tongkobpetch,S., Suphapeetiporn,K. and Shotelersuk,V. TITLE Two novel EBP mutations in Conradi-Hunermann-Happle syndrome JOURNAL Eur J Dermatol 18 (4), 391-393 (2008) PUBMED 18573709 REMARK GeneRIF: two unrelated Thai girls with chondrodysplasia punctata type 2. Mutation analysis by PCR-sequencing the entire coding region of emopamil binding protein(EBP) successfully revealed two potentially pathogenic, novel mutations, c.616G-->T and c.382delC. REFERENCE 5 (bases 1 to 1191) AUTHORS Steijlen,P.M., van Geel,M., Vreeburg,M., Marcus-Soekarman,D., Spaapen,L.J., Castelijns,F.C., Willemsen,M. and van Steensel,M.A. TITLE Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome JOURNAL Br. J. Dermatol. 157 (6), 1225-1229 (2007) PUBMED 17949453 REMARK GeneRIF: We found two novel (3G-->T and 419-422delTTCT) and one known mutation in the EBP gene. The strong phenotypic variability in our patients suggests that there is no clear genotype-phenotype correlation. REFERENCE 6 (bases 1 to 1191) 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 1191) 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 1191) 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 1191) 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 10 (bases 1 to 1191) 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 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AU128761.1, CA488777.1, BC001572.1 and BC001549.1. This sequence is a reference standard in the RefSeqGene project. On Mar 13, 2008 this sequence version replaced gi:5729809. 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 :: BC001549.1, AL559203.3 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025082, ERS025083 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-31 AU128761.1 1-31 32-69 CA488777.1 12-49 70-163 BC001572.1 1-94 164-1191 BC001549.1 94-1121 FEATURES Location/Qualifiers source 1..1191 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="X" /map="Xp11.23-p11.22" gene 1..1191 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /note="emopamil binding protein (sterol isomerase)" /db_xref="GeneID:10682" /db_xref="HGNC:3133" /db_xref="HPRD:02192" /db_xref="MIM:300205" exon 1..132 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="alignment:Splign:1.39.8" variation 11 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:192547569" variation 72 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="g" /db_xref="dbSNP:183610626" misc_feature 83..85 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /note="upstream in-frame stop codon" exon 133..506 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="alignment:Splign:1.39.8" variation 146 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:75348378" variation 164..165 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="" /replace="t" /db_xref="dbSNP:55772377" STS 187..336 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /standard_name="SHGC-34488" /db_xref="UniSTS:48541" variation 187 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:374851890" CDS 206..898 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /EC_number="5.3.3.5" /note="3-beta-hydroxysteroid-delta-8,delta-7-isomerase; sterol 8-isomerase; Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome); emopamil-binding protein (sterol isomerase); D8-D7 sterol isomerase; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol isomerase" /codon_start=1 /product="3-beta-hydroxysteroid-Delta(8), Delta(7)-isomerase" /protein_id="NP_006570.1" /db_xref="GI:5729810" /db_xref="CCDS:CCDS14300.1" /db_xref="GeneID:10682" /db_xref="HGNC:3133" /db_xref="HPRD:02192" /db_xref="MIM:300205" /translation="
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGTWRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVCMETITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELGHPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
" misc_feature 290..352 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15125.3); transmembrane region" misc_feature 356..868 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /note="Emopamil binding protein; Region: EBP; pfam05241" /db_xref="CDD:191242" misc_feature 401..463 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15125.3); transmembrane region" misc_feature 566..628 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15125.3); transmembrane region" misc_feature 758..820 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q15125.3); transmembrane region" variation 209 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:1049367" variation 218 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:201992088" variation 220 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="g" /replace="t" /db_xref="dbSNP:3048" STS 237..364 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /standard_name="RH16246" /db_xref="UniSTS:10543" variation 243 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="g" /db_xref="dbSNP:150034611" variation 258 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:104894795" variation 264 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:144359050" variation 281 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:200081935" variation 292 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:104894798" variation 355 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="t" /db_xref="dbSNP:1049370" variation 389 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:372974717" variation 392 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:104894799" variation 398..399 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="" /replace="c" /db_xref="dbSNP:35265835" variation 443 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:104894800" variation 466 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:145509273" variation 487 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:182712356" variation 494 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:377038311" exon 507..543 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="alignment:Splign:1.39.8" exon 544..674 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="alignment:Splign:1.39.8" variation 546 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="g" /replace="t" /db_xref="dbSNP:148792902" variation 565 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:375337168" variation 587 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:142881014" variation 591 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:104894792" variation 620 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:147961959" variation 645 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:28935174" exon 675..1157 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /inference="alignment:Splign:1.39.8" variation 716 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:141925556" variation 717 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:144209735" variation 718 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:147786080" variation 719 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:1049389" variation 728 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:104894793" variation 769 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:140245281" variation 792 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:104894794" variation 797 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:199938488" STS 819..952 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /standard_name="RH93495" /db_xref="UniSTS:87908" variation 855 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="c" /replace="t" /db_xref="dbSNP:150348311" STS 881..1096 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /standard_name="RH36014" /db_xref="UniSTS:78928" variation 894 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:368736352" variation 1044..1045 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="" /replace="g" /db_xref="dbSNP:199907187" variation 1082 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:1049435" variation 1103 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="g" /db_xref="dbSNP:11544364" variation 1118 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:1049446" polyA_signal 1137..1142 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" variation 1151 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" /replace="a" /replace="c" /db_xref="dbSNP:3177777" polyA_site 1155 /gene="EBP" /gene_synonym="CDPX2; CHO2; CPX; CPXD" ORIGIN
ccattggctcgctccgtaaggcaagagaacccactaggggatgagcccgaactagggatgtgacagagcgcgagacccagcctaaagagagcccggagccagcgtgggaggccgctgccgtcgcgcgccttggtttttctgttccttttttttttttttttttaacttcctgcctatacacacgcagccatcagcccacaaagacatgactaccaacgcgggccccttgcacccatactggcctcagcacctaagactggacaactttgtacctaatgaccgccccacctggcatatactggctggcctcttctctgtcacaggggtcttagtcgtgaccacatggctgttgtcaggtcgtgctgcggttgtcccattggggacttggcggcgactgtccctgtgctggtttgcagtgtgtgggttcattcacctggtgatcgagggctggttcgttctctactacgaagacctgcttggagaccaagccttcttatctcaactctggaaagagtatgccaagggagacagccgatacatcctgggtgacaacttcacagtgtgcatggaaaccatcacagcttgcctgtggggaccactcagcctgtgggtggtgatcgcctttctccgccagcatcccctccgcttcattctacagcttgtggtctctgtgggccagatctatggggatgtgctctacttcctgacagagcaccgcgacggattccagcacggagagctgggccaccctctctacttctggttttactttgtcttcatgaatgccctgtggctggtgctgcctggagtccttgtgcttgatgctgtgaagcacctcactcatgcccagagcacgctggatgccaaggccacaaaagccaagagcaagaagaactgaggagtggtggaccaggctcgaacactggccgaggaggagctctctgcctgccagaagagtctagtcctgctcccacagtttggagggacaaagctaattgatctgtcacactcaggctcatgggcaggcacaagaaggggaataaaggggctgtgtgaaggcactgctgggagccattagaacacagatacaagagaagccaggaggtctatgatggtgacgatttttaaaatcaggaaataaaagatcttgactctaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:10682 -> Molecular function: GO:0000247 [C-8 sterol isomerase activity] evidence: IEA GeneID:10682 -> Molecular function: GO:0004769 [steroid delta-isomerase activity] evidence: TAS GeneID:10682 -> Molecular function: GO:0004888 [transmembrane signaling receptor activity] evidence: TAS GeneID:10682 -> Molecular function: GO:0015238 [drug transmembrane transporter activity] evidence: TAS GeneID:10682 -> Molecular function: GO:0047750 [cholestenol delta-isomerase activity] evidence: IEA GeneID:10682 -> Biological process: GO:0001501 [skeletal system development] evidence: TAS GeneID:10682 -> Biological process: GO:0006695 [cholesterol biosynthetic process] evidence: IEA GeneID:10682 -> Biological process: GO:0006695 [cholesterol biosynthetic process] evidence: TAS GeneID:10682 -> Biological process: GO:0006855 [drug transmembrane transport] evidence: TAS GeneID:10682 -> Biological process: GO:0008203 [cholesterol metabolic process] evidence: TAS GeneID:10682 -> Biological process: GO:0030097 [hemopoiesis] evidence: IEA GeneID:10682 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:10682 -> Cellular component: GO:0005783 [endoplasmic reticulum] evidence: IDA GeneID:10682 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS GeneID:10682 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_006570 -> EC 5.3.3.5
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.