dhcr7 7-dehydrocholesterol reductase [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: dhcr7provided by ZNC
Official Full Name: 7-dehydrocholesterol reductaseprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030912-9
See related: Ensembl:ENSDARG00000103226 AllianceGenome:ZFIN:ZDB-GENE-030912-9
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. Acts upstream of or within cholesterol biosynthetic process. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Is expressed in alar plate midbrain region; digestive system; nervous system; and optic vesicle. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Behcet's disease and Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	2	NC_007113.7 (28649736..28671144, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	2	NC_007113.6 (28666572..28687108, complement)

Chromosome 2 - NC_007113.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages 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

What's a GeneRIF?

DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.
Title: DHCR7 links cholesterol synthesis with neuronal development and axonal integrity.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables 7-dehydrocholesterol reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 7-dehydrocholesterol reductase activity	IEA Inferred from Electronic Annotation more info
enables NADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation 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 cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cholesterol biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within lipid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within steroid metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within sterol biosynthetic process	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: 7-dehydrocholesterol reductase

Names: 7-DHC reductase; sterol Delta(7)-reductase

NP_958487.2

EC 1.3.1.21

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)

NM_201330.2 → NP_958487.2 7-dehydrocholesterol reductase

Status: VALIDATED

Source sequence(s)

CU651666, CU652840

UniProtKB/Swiss-Prot

Q7SXF1

Related

ENSDARP00000136120.1, ENSDART00000164657.2

Conserved Domains (1) summary

cl21511
Location:51 → 478

PEMT; Phospholipid methyltransferase