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Ebp EBP cholestenol delta-isomerase [ Mus musculus (house mouse) ]

Gene ID: 13595, updated on 23-Nov-2023

Summary

Official Symbol
Ebpprovided by MGI
Official Full Name
EBP cholestenol delta-isomeraseprovided by MGI
Primary source
MGI:MGI:107822
See related
Ensembl:ENSMUSG00000031168 AllianceGenome:MGI:107822
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
SI; Td; mSI; Pabp
Summary
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]
Expression
Broad expression in liver adult (RPKM 125.5), large intestine adult (RPKM 40.4) and 20 other tissues See more
Orthologs
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Genomic context

See Ebp in Genome Data Viewer
Location:
X A1.1; X 3.7 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_04 current GRCm39 (GCF_000001635.27) X NC_000086.8 (8051568..8059751, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (8185329..8193512, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene RNA binding motif (RNP1, RRM) protein 3 Neighboring gene RNA binding motif protein 3, opposite strand Neighboring gene TBC1 domain family, member 25 Neighboring gene porcupine O-acyltransferase Neighboring gene predicted gene, 33135 Neighboring gene FtsJ RNA 2'-O-methyltransferase 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Gene trapped (1) 
  • Radiation induced (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 IDA
Inferred from Direct Assay
more info
PubMed 
enables C-8 sterol isomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables C-8 sterol isomerase activity ISO
Inferred from Sequence Orthology
more info
 
enables cholestenol delta-isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
 
enables steroid delta-isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables steroid delta-isomerase activity ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum membrane ISM
Inferred from Sequence Model
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nuclear envelope ISO
Inferred from Sequence Orthology
more info
 
located_in nuclear membrane ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
Names
D8-D7 sterol isomerase
cholestenol Delta-isomerase
delta(8)-Delta(7) sterol isomerase
phenylalkylamine Ca2+ antagonist (emopamil) binding protein
tattered
NP_031924.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_007898.3NP_031924.1  3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

    See identical proteins and their annotated locations for NP_031924.1

    Status: REVIEWED

    Source sequence(s)
    AK027977, AL663032, DV661455
    Consensus CDS
    CCDS29989.1
    UniProtKB/Swiss-Prot
    P70245, Q9CSP4
    Related
    ENSMUSP00000033509.9, ENSMUST00000033509.15
    Conserved Domains (1) summary
    pfam05241
    Location:36217
    EBP; Emopamil binding protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2023_04

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    8051568..8059751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)