Ebp EBP, cholestenol delta-isomerase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ebpprovided by RGD
Official Full Name: EBP, cholestenol delta-isomeraseprovided by RGD
Primary source: RGD:620957
See related: EnsemblRapid:ENSRNOG00000004903 AllianceGenome:RGD:620957
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables C-8 sterol isomerase activity. Involved in cholesterol biosynthetic process. Predicted to be located in nuclear membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in MEND syndrome; X-linked chondrodysplasia punctata 2; and chondrodysplasia punctata. Orthologous to human EBP (EBP cholestenol delta-isomerase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Liver (RPKM 233.6), Kidney (RPKM 57.0) and 7 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq12

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (16971372..16977782)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (14299427..14305826)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (15049394..15055782)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

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General gene information

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Markers

RH131140 (e-PCR)
- UniSTS:214423

DXS7465E (e-PCR)
- UniSTS:99518

RH131962 (e-PCR)
- UniSTS:215245

Gene Ontology Provided by RGD

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	ISO Inferred from Sequence Orthology more info
enables C-8 sterol isomerase activity	TAS Traceable Author Statement more info	PubMed
enables cholestenol delta-isomerase activity	IEA Inferred from Electronic Annotation more info
enables cholesterol-5,6-oxide hydrolase activity	ISO Inferred from Sequence Orthology more info
enables cholesterol-5,6-oxide hydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISO Inferred from Sequence Orthology 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
enables steroid delta-isomerase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cholesterol biosynthetic process	TAS Traceable Author Statement more info	PubMed
involved_in cholesterol metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hemopoiesis	ISO Inferred from Sequence Orthology more info
involved_in ossification involved in bone maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sterol biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in sterol biosynthetic process	TAS Traceable Author Statement 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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase

Names: D8-D7 sterol isomerase; cholestenol Delta-isomerase; delta(8)-Delta(7) sterol isomerase; emopamil binding protein (sterol isomerase); emopamil-binding protein; phenylalkylamine Ca2+ antagonist (emopamil) binding protein; sterol 8-isomerase

NP_476478.1

EC 5.3.3.5

XP_006256761.1

EC 5.3.3.5

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.