U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    EBP EBP cholestenol delta-isomerase [ Homo sapiens (human) ]

    Gene ID: 10682, updated on 23-Nov-2023

    Summary

    Official Symbol
    EBPprovided by HGNC
    Official Full Name
    EBP cholestenol delta-isomeraseprovided by HGNC
    Primary source
    HGNC:HGNC:3133
    See related
    Ensembl:ENSG00000147155 MIM:300205; AllianceGenome:HGNC:3133
    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]
    Expression
    Ubiquitous expression in liver (RPKM 87.3), duodenum (RPKM 37.6) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EBP in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48521808..48528716)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47930820..47937730)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48380196..48387104)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20814 Neighboring gene PORCN divergent transcript Neighboring gene porcupine O-acyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20817 Neighboring gene CRISPRi-validated cis-regulatory element chrX.929 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48397756-48398256 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:48398257-48398757 Neighboring gene TBC1 domain family member 25 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48426332-48426532 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 4 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:48436957-48437166 Neighboring gene RNA binding motif protein 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Chondrodysplasia punctata 2 X-linked dominant Compare labs
    MEND syndrome
    MedGen: C4085243 OMIM: 300960 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-01-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-22)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables C-8 sterol isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables C-8 sterol isomerase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables cholestenol delta-isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables steroid delta-isomerase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables steroid delta-isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables steroid delta-isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables steroid delta-isomerase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane ISM
    Inferred from Sequence Model
    more info
    PubMed 
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    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 isomerase)
    emopamil-binding protein
    sterol 8-isomerase
    NP_006570.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5033..11941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006579.3NP_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)
      BC001549, BC001572, CA488777
      Consensus CDS
      CCDS14300.1
      UniProtKB/Swiss-Prot
      Q15125, Q6FGL3, Q6IBI9
      UniProtKB/TrEMBL
      A0A024QYX0
      Related
      ENSP00000417052.1, ENST00000495186.6
      Conserved Domains (1) summary
      pfam05241
      Location:36214
      EBP; Emopamil binding protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48521808..48528716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47930820..47937730
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)