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O88455 (DHCR7_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 104. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length471 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processCholesterol biosynthesis
Cholesterol metabolism
Lipid biosynthesis
Lipid metabolism
Steroid biosynthesis
Steroid metabolism
Sterol biosynthesis
Sterol metabolism
   Cellular componentEndoplasmic reticulum
Membrane
   DomainTransmembrane
Transmembrane helix
   LigandNADP
   Molecular functionOxidoreductase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood vessel development

Inferred from mutant phenotype PubMed 15005800. Source: MGI

cell differentiation

Inferred from mutant phenotype PubMed 15005800. Source: MGI

cholesterol biosynthetic process

Inferred from electronic annotation. Source: UniProtKB-UniPathway

lung development

Inferred from mutant phenotype PubMed 15005800. Source: MGI

multicellular organism growth

Inferred from mutant phenotype PubMed 15005800. Source: MGI

post-embryonic development

Inferred from mutant phenotype PubMed 15005800. Source: MGI

regulation of cell proliferation

Inferred from mutant phenotype PubMed 15005800. Source: MGI

regulation of cholesterol biosynthetic process

Inferred from electronic annotation. Source: Ensembl

sterol biosynthetic process

Inferred from mutant phenotype PubMed 15005800. Source: MGI

   Cellular_componentendoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nuclear outer membrane

Inferred from electronic annotation. Source: Ensembl

   Molecular_function7-dehydrocholesterol reductase activity

Inferred from direct assay PubMed 11792727. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 4714717-dehydrocholesterol reductase
PRO_0000207503

Regions

Transmembrane36 – 5621Helical; Potential
Transmembrane95 – 11521Helical; Potential
Transmembrane144 – 16421Helical; Potential
Transmembrane173 – 19321Helical; Potential
Transmembrane233 – 25321Helical; Potential
Transmembrane262 – 28221Helical; Potential
Transmembrane302 – 32221Helical; Potential
Transmembrane327 – 34721Helical; Potential
Transmembrane416 – 43621Helical; Potential

Amino acid modifications

Modified residue141Phosphoserine By similarity

Sequences

Sequence LengthMass (Da)Tools
O88455 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 6B1BC356CC539290

FASTA47153,919
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF057368 mRNA. Translation: AAC40164.1.
BC006854 mRNA. Translation: AAH06854.1.
RefSeqNP_031882.1. NM_007856.2.
XP_006508541.1. XM_006508478.1.
XP_006508542.1. XM_006508479.1.
XP_006508543.1. XM_006508480.1.
XP_006508544.1. XM_006508481.1.
UniGeneMm.249342.

3D structure databases

ProteinModelPortalO88455.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteO88455.

Proteomic databases

PaxDbO88455.
PRIDEO88455.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000073878; ENSMUSP00000073541; ENSMUSG00000058454.
ENSMUST00000124340; ENSMUSP00000117659; ENSMUSG00000058454.
ENSMUST00000141916; ENSMUSP00000121782; ENSMUSG00000058454.
GeneID13360.
KEGGmmu:13360.
UCSCuc009kqc.1. mouse.

Organism-specific databases

CTD1717.
MGIMGI:1298378. Dhcr7.

Phylogenomic databases

eggNOGNOG72042.
GeneTreeENSGT00390000000417.
HOGENOMHOG000193296.
HOVERGENHBG007825.
InParanoidO88455.
KOK00213.
OMATFAMIKG.
PhylomeDBO88455.
TreeFamTF101180.

Enzyme and pathway databases

UniPathwayUPA00063.

Gene expression databases

ArrayExpressO88455.
BgeeO88455.
CleanExMM_DHCR7.
GenevestigatorO88455.

Family and domain databases

InterProIPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
[Graphical view]
PfamPF01222. ERG4_ERG24. 1 hit.
[Graphical view]
PROSITEPS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio283692.
PROO88455.
SOURCESearch...

Entry information

Entry nameDHCR7_MOUSE
AccessionPrimary (citable) accession number: O88455
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 104 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot