Mouse Gene Ebp (ENSMUST00000033509.14) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
| Description: Mus musculus phenylalkylamine Ca2+ antagonist (emopamil) binding protein (Ebp), mRNA. (from RefSeq NM_007898) RefSeq Summary (NM_007898): This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum. This protein catalyses the conversion of delta8 to delta7 sterols, an important step in sterol biosynthesis. Mutations in this gene are responsible for the mouse tattered mutant phenotype. Tattered males are embryonic lethal, while heterozygous females have developmental defects. Deficiency of the related gene in human causes X-linked dominant chondrodysplasia punctata. [provided by RefSeq, May 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENSMUST00000033509.14 Gencode Gene: ENSMUSG00000031168.14 Transcript (Including UTRs) Position:mm10 chrX:8,185,329-8,193,512Size:8,184Total Exon Count:5Strand:- Coding Region Position:mm10 chrX:8,185,610-8,190,379Size:4,770Coding Exon Count:4
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Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
| ID: EBP_MOUSE DESCRIPTION: RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; EC=5.3.3.5; AltName: Full=Cholestenol Delta-isomerase; AltName: Full=Delta(8)-Delta(7) sterol isomerase; Short=D8-D7 sterol isomerase; AltName: Full=Emopamil-binding protein; FUNCTION: Catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers. CATALYTIC ACTIVITY: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha- cholest-8-en-3-beta-ol. PATHWAY: Steroid biosynthesis; cholesterol biosynthesis. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Note=Defects in Ebp are a cause of 'Tattered' (Td) which is an X-linked, semidominant mouse mutation associated with prenatal male lethality. Heterozygous females are small and at 4 to 5 days of age develop patches of hyperkeratotic skin where no hair grows, resulting in a striping of the coat in adults. Craniofacial anomalies and twisted toes have also been observed in some affected females. MISCELLANEOUS: Binds to the phenylalkylamine calcium-ion antagonist emopamil, an anti-ischemic drug. SIMILARITY: Belongs to the EBP family. |
Primer design for this transcript
Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA. Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence. To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3 |
Comparative Toxicogenomics Database (CTD)
The following chemicals interact with this gene
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have. | |||||||||||||||||||||||
Protein Domain and Structure Information
| InterPro Domains: Graphical view of domain structure IPR007905 - EBP Pfam Domains: ModBase Predicted Comparative 3D Structure on P70245
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Orthologous Genes in Other Species
| Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene. |
Gene Ontology (GO) Annotations with Structured Vocabulary
| Molecular Function: GO:0000247 C-8 sterol isomerase activity GO:0004769 steroid delta-isomerase activity GO:0016853 isomerase activity GO:0047750 cholestenol delta-isomerase activity Biological Process: Cellular Component: |
Descriptions from all associated GenBank mRNAs
| LF201883 - JP 2014500723-A/9386: Polycomb-Associated Non-Coding RNAs. BC004703 - Mus musculus phenylalkylamine Ca2+ antagonist (emopamil) binding protein, mRNA (cDNA clone MGC:7785 IMAGE:3499265), complete cds. X97755 - M.musculus mRNA MSI. BC004620 - Mus musculus phenylalkylamine Ca2+ antagonist (emopamil) binding protein, mRNA (cDNA clone MGC:5940 IMAGE:3585323), complete cds. AK008113 - Mus musculus adult male small intestine cDNA, RIKEN full-length enriched library, clone:2010005B01 product:phenylalkylamine Ca2+ antagonist (emopamil) binding protein, full insert sequence. LF310526 - JP 2014500723-A/118029: Polycomb-Associated Non-Coding RNAs. AK027977 - Mus musculus 18-day embryo whole body cDNA, RIKEN full-length enriched library, clone:1110055D13 product:phenylalkylamine Ca2+ antagonist (emopamil) binding protein, full insert sequence. LF310528 - JP 2014500723-A/118031: Polycomb-Associated Non-Coding RNAs. AK012266 - Mus musculus 11 days embryo whole body cDNA, RIKEN full-length enriched library, clone:2700022A17 product:phenylalkylamine Ca2+ antagonist (emopamil) binding protein, full insert sequence. LF310529 - JP 2014500723-A/118032: Polycomb-Associated Non-Coding RNAs. LF310531 - JP 2014500723-A/118034: Polycomb-Associated Non-Coding RNAs. LF310534 - JP 2014500723-A/118037: Polycomb-Associated Non-Coding RNAs. LF310536 - JP 2014500723-A/118039: Polycomb-Associated Non-Coding RNAs. LF310537 - JP 2014500723-A/118040: Polycomb-Associated Non-Coding RNAs. MA437460 - JP 2018138019-A/9386: Polycomb-Associated Non-Coding RNAs. MA546103 - JP 2018138019-A/118029: Polycomb-Associated Non-Coding RNAs. MA546105 - JP 2018138019-A/118031: Polycomb-Associated Non-Coding RNAs. MA546106 - JP 2018138019-A/118032: Polycomb-Associated Non-Coding RNAs. MA546108 - JP 2018138019-A/118034: Polycomb-Associated Non-Coding RNAs. MA546111 - JP 2018138019-A/118037: Polycomb-Associated Non-Coding RNAs. MA546113 - JP 2018138019-A/118039: Polycomb-Associated Non-Coding RNAs. MA546114 - JP 2018138019-A/118040: Polycomb-Associated Non-Coding RNAs. |
Biochemical and Signaling Pathways
| KEGG - Kyoto Encyclopedia of Genes and Genomes mmu00100 - Steroid biosynthesis mmu01100 - Metabolic pathways BioCyc Knowledge Library Reactome (by CSHL, EBI, and GO) Protein P70245 (Reactome details) participates in the following event(s): R-MMU-195690 Zymosterol is isomerized to cholesta-7,24-dien-3beta-ol |
| Alternate Gene Symbols: EBP_MOUSE, Msi, NM_007898, P70245, Q9CSP4, uc009soi.1, uc009soi.2 UCSC ID: uc009soi.2 RefSeq Accession: NM_007898 Protein: P70245 (aka EBP_MOUSE) CCDS: CCDS29989.1 |
