Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    EBP emopamil binding protein (sterol isomerase) [ Homo sapiens (human) ]

    Gene ID: 10682, updated on 8-Aug-2016
    Official Symbol
    EBPprovided by HGNC
    Official Full Name
    emopamil binding protein (sterol isomerase)provided by HGNC
    Primary source
    HGNC:HGNC:3133
    See related
    Ensembl:ENSG00000147155 HPRD:02192; MIM:300205; Vega:OTTHUMG00000034482
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPX; CHO2; CPXD; MEND; CDPX2
    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]
    Orthologs
    Location:
    Xp11.23-p11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (48521776..48528716)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48379306..48387104)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927635 Neighboring gene porcupine homolog (Drosophila) Neighboring gene TBC1 domain family member 25 Neighboring gene RNA binding motif (RNP1, RRM) protein 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-03-28)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-03-28)

    ClinGen Genome Curation Page
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    C-8 sterol isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    cholestenol delta-isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    drug transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    steroid delta-isomerase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    steroid delta-isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane signaling receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol biosynthetic process via desmosterol TAS
    Traceable Author Statement
    more info
     
    cholesterol biosynthetic process via lathosterol TAS
    Traceable Author Statement
    more info
     
    cholesterol metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    drug transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    hemopoiesis IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasmic, membrane-bounded vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
    Names
    3-beta-hydroxysteroid-delta-8,delta-7-isomerase
    Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)
    D8-D7 sterol isomerase
    cholestenol Delta-isomerase
    delta(8)-Delta(7) sterol isomerase
    emopamil-binding protein
    sterol 8-isomerase
    NP_006570.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007452.1 RefSeqGene

      Range
      5001..11941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006579.2NP_006570.1  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

      See identical proteins and their annotated locations for NP_006570.1

      Status: REVIEWED

      Source sequence(s)
      AU128761, BC001549, BC001572, CA488777
      Consensus CDS
      CCDS14300.1
      UniProtKB/Swiss-Prot
      Q15125
      UniProtKB/TrEMBL
      A0A024QYX0
      Related
      ENSP00000417052, OTTHUMP00000032393, ENST00000495186, OTTHUMT00000083372
      Conserved Domains (1) summary
      pfam05241
      Location:31219
      EBP; Emopamil binding protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      48521776..48528716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      48411425..48418366
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)