ebp EBP cholestenol delta-isomerase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: ebpprovided by ZNC
Official Full Name: EBP cholestenol delta-isomeraseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040718-12
See related: Ensembl:ENSDARG00000046098 AllianceGenome:ZFIN:ZDB-GENE-040718-12
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: zgc:91895
Summary: Predicted to enable C-8 sterol isomerase activity and steroid delta-isomerase activity. Predicted to be involved in cholesterol biosynthetic process. Predicted to act upstream of or within sterol metabolic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of 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, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	23	NC_007134.7 (19148060..19153272, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	23	NC_007134.6 (19221717..19226929, complement)

Chromosome 23 - NC_007134.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables C-8 sterol isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholestenol delta-isomerase activity	IEA Inferred from Electronic Annotation more info
enables steroid delta-isomerase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cholesterol biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sterol metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: emopamil binding protein (sterol isomerase)

NP_001002328.1

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.