Reviewed, UniProtKB/Swiss-Prot O88455 (DHCR7_MOUSE)

Names and origin

Protein names

Recommended name:
    7-dehydrocholesterol reductase
      Short name=7-DHC reductase
    EC=1.3.1.21
Alternative name(s):
    Sterol Delta(7)-reductase

Gene names

Name:

Dhcr7

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	471 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Catalytic activity	Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH.
Pathway	Steroid biosynthesis; cholesterol biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein.
Sequence similarities	Belongs to the ERG4/ERG24 family.

Ontologies

Keywords
Biological process	Cholesterol biosynthesis Lipid synthesis Steroid biosynthesis Sterol biosynthesis
Cellular component	Endoplasmic reticulum Membrane
Domain	Transmembrane
Ligand	NADP
Molecular function	Oxidoreductase
Gene Ontology (GO)
Biological process	blood vessel development Inferred from mutant phenotype. Source: MGI cell differentiation Inferred from mutant phenotype. Source: MGI cholesterol biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW lung development Inferred from mutant phenotype. Source: MGI multicellular organism growth Inferred from mutant phenotype. Source: MGI oxidation reduction Inferred from electronic annotation. Source: UniProtKB-KW post-embryonic development Inferred from mutant phenotype. Source: MGI regulation of cell proliferation Inferred from mutant phenotype. Source: MGI
Cellular component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	7-dehydrocholesterol reductase activity Inferred from direct assay. Source: MGI
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 471	471	7-dehydrocholesterol reductase		PRO_0000207503
Regions
	Transmembrane	36 – 56	21	Potential
	Transmembrane	95 – 115	21	Potential
	Transmembrane	144 – 164	21	Potential
	Transmembrane	173 – 193	21	Potential
	Transmembrane	233 – 253	21	Potential
	Transmembrane	262 – 282	21	Potential
	Transmembrane	302 – 322	21	Potential
	Transmembrane	327 – 347	21	Potential
	Transmembrane	416 – 436	21	Potential

Sequences

	Sequence		Length	Mass (Da)
	O88455-1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 6B1BC356CC539290	FASTA	471	53,919
	10 20 30 40 50 60 MASKSQHNAP KVKSPNGKAG SQGQWGRAWE VDWFSLASII FLLLFAPFIV YYFIMACDQY 70 80 90 100 110 120 SCSLTAPALD IATGHASLAD IWAKTPPVTA KAAQLYALWV SFQVLLYSWL PDFCHRFLPG 130 140 150 160 170 180 YVGGVQEGAI TPAGVVNKYE VNGLQAWLIT HILWFVNAYL LSWFSPTIIF DNWIPLLWCA 190 200 210 220 230 240 NILGYAVSTF AMIKGYLFPT SAEDCKFTGN FFYNYMMGIE FNPRIGKWFD FKLFFNGRPG 250 260 270 280 290 300 IVAWTLINLS FAAKQQELYG HVTNSMILVN VLQAIYVLDF FWNETWYLKT IDICHDHFGW 310 320 330 340 350 360 YLGWGDCVWL PYLYTLQGLY LVYHPVQLST PNALGILLLG LVGYYIFRMT NHQKDLFRRT 370 380 390 400 410 420 DGRCLIWGKK PKAIECSYTS ADGLKHHSKL LVSGFWGVAR HFNYTGDLMG SLAYCLACGG 430 440 450 460 470 GHLLPYFYII YMTILLTHRC LRDEHRCANK YGRDWERYTA AVPYRLLPGI F

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome." Fitzky B.U., Witsch-Baumgartner M., Erdel M., Lee J.N., Paik Y.-K., Glossmann H., Utermann G., Moebius F.F. Proc. Natl. Acad. Sci. U.S.A. 95:8181-8186(1998) [PubMed: 9653161] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF057368 mRNA. Translation: AAC40164.1. BC006854 mRNA. Translation: AAH06854.1.
RefSeq	NP_031882.1.
UniGene	Mm.249342
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	O88455.
Genome annotation databases
Ensembl	ENSMUSG00000058454. Mus musculus. [Contig view]
GeneID	13360.
KEGG	mmu:13360.
Organism-specific databases
MGI	MGI:1298378. Dhcr7.
Phylogenomic databases
HOGENOM	O88455.
HOVERGEN	O88455.
Gene expression databases
ArrayExpress	O88455.
CleanEx	MM_DHCR7.
GermOnline	ENSMUSG00000058454. Mus musculus.
Family and domain databases
InterPro	IPR001171. ERG4_ERG24. [Graphical view]
Pfam	PF01222. ERG4_ERG24. 1 hit. [Graphical view]
PROSITE	PS01017. STEROL_REDUCT_1. 1 hit. PS01018. STEROL_REDUCT_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	283692.
SOURCE	Search...

Entry information

Entry name

DHCR7_MOUSE

Accession

Primary (citable) accession number: O88455

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	November 1, 1998
Last modified:	November 25, 2008
This is version 61 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)