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FLASH GENE
Symbol EBP contributors: mct/npt - updated : 19-01-2010
HGNC name emopamil binding protein (sterol isomerase)
HGNC id 3133
Corresponding disease
CDPX2A chondrodysplasia punctata 2, Conradi-Hünermann type, dominant
Location Xp11.23      Physical location : 48.380.163 - 48.387.102
Synonym name
  • 3-beta-hydrxysteroid-delta 8-delta 7, isomerase
  • sterol 8-isomerase
  • cholestenol delta-isomerase
  • D8-D7 sterol isomerase
  • Synonym symbol(s) CPX, CHO2, CPXD
    EC.number 5.3.3.5
    DNA
    TYPE functioning gene
    STRUCTURE 6.94 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status inconsistent : contradictory evidence
    Physical map
    FLJ20573 Xp11.3-p11.1 hypothetical zinc finger protein FLJ20573 SSX6 Xp11.2 synovial sarcoma, X breakpoint 6 psiSSX2 Xp11.2 SSX2 pseudogene LOC389853 X similar to dJ54B20.3 (novel protein similar to lysozyme C (1,4-beta-N-acetylmuramidase)) LOC392460 X similar to Ornithine aminotransferase, mitochondrial precursor (Ornithine--oxo-acid aminotransferase) psiSSX3 Xp11.2 SSX3 pseudogene SSX5 Xp11.2-p11.1 synovial sarcoma, X breakpoint 5 LOC392462 X similar to synovial sarcoma, X breakpoint 6 SSX1 Xp11.23-p11.22 synovial sarcoma, X breakpoint 1 psiSSX8 Xp11.2 psiSSX8 pseudogene SSX9 Xp11.23 synovial sarcoma, X breakpoint 9 psiSSX9 Xp11.2 SSX9 pseudogene SSX3 Xp11.2-p11.1 synovial sarcoma, X breakpoint 3 SSX4 Xp11.2-p11.1 synovial sarcoma, X breakpoint 4 SLC38A5 Xp11.23 solute carrier family 38, member 5 FTSJ1 Xp11.23 FtsJ homolog 1 (E. coli) PPN Xp11.23 likely ortholog of mouse porcupine homolog (Drosophila) EBP Xp11.23-p11.22 emopamil binding protein (sterol isomerase) OATL1 Xp11.23-p11.22 ornithine aminotransferase-like 1 RBM3 Xp11.23 RNA binding motif protein 3 MRPL32P1 Xq11.23 RNA binding motif protein 3 WDR13 Xp11.23 WD repeat domain 13 WAS Xp11.23-p11.22 Wiskott-Aldrich syndrome (eczema-thrombocytopenia) SUV39H1 Xp11.23 suppressor of variegation 3-9 homolog 1 (Drosophila) LOC392465 X similar to RIKEN cDNA 2010001H14 LOC389854 X similar to Acetyl-coenzyme A acyltransferase 2 GATA1 Xp11.23 GATA binding protein 1 (globin transcription factor 1) HDAC6 Xp11.23 histone deacetylase 6 ERAS Xpter-q26 ES cell expressed Ras PCSK1N Xp11.23 proprotein convertase subtilisin/kexin type 1 inhibitor TIMM17B Xp11.23 translocase of inner mitochondrial membrane 17 homolog B (yeast) PQBP1 Xp11.3 polyglutamine binding protein 1 SLC35A2 Xp11.23-p11.22 solute carrier family 35 (UDP-galactose transporter), member A2 PIM2 Xp11.3-p11.2 pim-2 oncogene DKFZp761A052 Xp11.23 hypothetical protein DKFZp761A052
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1191 - 230 - Moebius (1999)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestine    
     liver    
    Endocrineadrenal gland    
    Reproductivefemale systemovary   
     male systemtestis   
     male systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to guinea pig Ebp
    Homologene
    FAMILY
  • superfamily of high affinity drug-binding proteins
  • EBP family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    basic FUNCTION
  • 3 hydroxysteroid-delta 8-delta 7-isomerase beta
  • converting cholesterol 8(9)-en 3 beta to bathosterol (cholest-7en-3 beta-ol)
  • may be involved in the drug transport by the P-glycoprotein
  • cholesterol biosynthesis pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • emopamil (protein for the antiischemic phenylalkylamine Ca2+ antagonist )
  • lamoxifen binding
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDPX2A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS