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Protein

7-dehydrocholesterol reductase

Gene

DHCR7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Catalytic activityi

Cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH.

Pathwayi: cholesterol biosynthesis

This protein is involved in the pathway cholesterol biosynthesis, which is part of Steroid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway cholesterol biosynthesis and in Steroid biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei358NADPBy similarity1
Binding sitei362NADPBy similarity1
Binding sitei395NADP; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei400NADPBy similarity1
Binding sitei447NADPBy similarity1
Binding sitei462NADPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi407 – 408NADPBy similarity2
Nucleotide bindingi451 – 455NADPBy similarity5

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processCholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS10588-MONOMER.
BRENDAi1.3.1.21. 2681.
ReactomeiR-HSA-2426168. Activation of gene expression by SREBF (SREBP).
R-HSA-6807047. Cholesterol biosynthesis via desmosterol.
R-HSA-6807062. Cholesterol biosynthesis via lathosterol.
SABIO-RKiQ9UBM7.
UniPathwayiUPA00063.

Chemistry databases

SwissLipidsiSLP:000001078.

Names & Taxonomyi

Protein namesi
Recommended name:
7-dehydrocholesterol reductase (EC:1.3.1.21)
Short name:
7-DHC reductase
Alternative name(s):
Putative sterol reductase SR-2
Sterol Delta(7)-reductase
Gene namesi
Name:DHCR7
Synonyms:D7SR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000172893.15.
HGNCiHGNC:2860. DHCR7.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei154 – 174HelicalSequence analysisAdd BLAST21
Transmembranei177 – 197HelicalSequence analysisAdd BLAST21
Transmembranei266 – 286HelicalSequence analysisAdd BLAST21
Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
Transmembranei331 – 351HelicalSequence analysisAdd BLAST21
Transmembranei420 – 440HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Smith-Lemli-Opitz syndrome (SLOS)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
See also OMIM:270400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01271751P → S in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs104886035Ensembl.1
Natural variantiVAR_02314868L → P in SLOS. 1 PublicationCorresponds to variant dbSNP:rs104886038Ensembl.1
Natural variantiVAR_01271893T → M in SLOS. 4 PublicationsCorresponds to variant dbSNP:rs80338853Ensembl.1
Natural variantiVAR_01271999L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs104886041Ensembl.1
Natural variantiVAR_023149107Q → H in SLOS. 1 PublicationCorresponds to variant dbSNP:rs104886040Ensembl.1
Natural variantiVAR_023150109L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121912195Ensembl.1
Natural variantiVAR_023151113S → C in SLOS. 1 Publication1
Natural variantiVAR_012720119H → L in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs28938174Ensembl.1
Natural variantiVAR_023152138G → V in SLOS. 1 Publication1
Natural variantiVAR_023153145I → L in SLOS. 1 Publication1
Natural variantiVAR_023154147G → D in SLOS. 1 PublicationCorresponds to variant dbSNP:rs777425801Ensembl.1
Natural variantiVAR_023155154T → M in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs143312232Ensembl.1
Natural variantiVAR_012721157L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs753960624Ensembl.1
Natural variantiVAR_023156169S → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs80338855Ensembl.1
Natural variantiVAR_023157182W → C in SLOS. 1 Publication1
Natural variantiVAR_023158182W → L in SLOS. 1 Publication1
Natural variantiVAR_023159183C → Y in SLOS. 1 Publication1
Natural variantiVAR_023160198K → E in SLOS. 1 Publication1
Natural variantiVAR_023161235F → S in SLOS. 1 Publication1
Natural variantiVAR_023162242R → C in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs80338856Ensembl.1
Natural variantiVAR_023163242R → H in SLOS. 1 PublicationCorresponds to variant dbSNP:rs80338857Ensembl.1
Natural variantiVAR_012722244G → R in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121909764Ensembl.1
Natural variantiVAR_012723247A → V in SLOS. 2 Publications1
Natural variantiVAR_012724248W → C in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs28939698Ensembl.1
Natural variantiVAR_023164255F → L in SLOS. 1 Publication1
Natural variantiVAR_023165281V → M in SLOS. 1 PublicationCorresponds to variant dbSNP:rs398123607Ensembl.1
Natural variantiVAR_012725289T → I in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121909765Ensembl.1
Natural variantiVAR_023166297I → T in SLOS. 1 Publication1
Natural variantiVAR_023167311C → G in SLOS. 1 Publication1
Natural variantiVAR_023168311C → Y in SLOS. 1 Publication1
Natural variantiVAR_023169324Y → H in SLOS. 1 Publication1
Natural variantiVAR_012726326V → L in SLOS. 3 PublicationsCorresponds to variant dbSNP:rs80338859Ensembl.1
Natural variantiVAR_023170344G → R in SLOS. 1 Publication1
Natural variantiVAR_023171352R → Q in SLOS. 1 PublicationCorresponds to variant dbSNP:rs121909768Ensembl.1
Natural variantiVAR_012727352R → W in SLOS. 3 PublicationsCorresponds to variant dbSNP:rs80338860Ensembl.1
Natural variantiVAR_023172353V → A in SLOS. 1 Publication1
Natural variantiVAR_023173362R → C in SLOS. 1 PublicationCorresponds to variant dbSNP:rs371302153Ensembl.1
Natural variantiVAR_023174380C → R in SLOS. 1 PublicationCorresponds to variant dbSNP:rs373306653Ensembl.1
Natural variantiVAR_012728380C → S in SLOS. 2 Publications1
Natural variantiVAR_023175380C → Y in SLOS. 1 PublicationCorresponds to variant dbSNP:rs779709646Ensembl.1
Natural variantiVAR_023176397S → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs773134475Ensembl.1
Natural variantiVAR_012729404R → C in SLOS. 4 PublicationsCorresponds to variant dbSNP:rs61757582Ensembl.1
Natural variantiVAR_023177404R → S in SLOS. 1 Publication1
Natural variantiVAR_023178405H → Y in SLOS. 1 Publication1
Natural variantiVAR_023179408Y → H in SLOS. 2 Publications1
Natural variantiVAR_023180410G → R in SLOS. 1 Publication1
Natural variantiVAR_012730410G → S in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs80338862Ensembl.1
Natural variantiVAR_023181426H → P in SLOS. 1 Publication1
Natural variantiVAR_023182443R → C in SLOS. 1 PublicationCorresponds to variant dbSNP:rs535561852Ensembl.1
Natural variantiVAR_023183446R → Q in SLOS. 1 PublicationCorresponds to variant dbSNP:rs751604696Ensembl.1
Natural variantiVAR_016975448E → K in SLOS; mild. 2 PublicationsCorresponds to variant dbSNP:rs80338864Ensembl.1
Natural variantiVAR_023184448E → Q in SLOS. 1 Publication1
Natural variantiVAR_023185450R → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs542266962Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1717.
GeneReviewsiDHCR7.
MalaCardsiDHCR7.
MIMi270400. phenotype.
OpenTargetsiENSG00000172893.
Orphaneti818. Smith-Lemli-Opitz syndrome.
PharmGKBiPA27321.

Chemistry databases

ChEMBLiCHEMBL2169735.
DrugBankiDB00157. NADH.

Polymorphism and mutation databases

BioMutaiDHCR7.
DMDMi20138066.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002075021 – 4757-dehydrocholesterol reductaseAdd BLAST475

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UBM7.
MaxQBiQ9UBM7.
PaxDbiQ9UBM7.
PeptideAtlasiQ9UBM7.
PRIDEiQ9UBM7.

PTM databases

iPTMnetiQ9UBM7.
PhosphoSitePlusiQ9UBM7.
SwissPalmiQ9UBM7.

Expressioni

Tissue specificityi

Most abundant in adrenal gland, liver, testis, and brain.1 Publication

Gene expression databases

BgeeiENSG00000172893.
CleanExiHS_DHCR7.
ExpressionAtlasiQ9UBM7. baseline and differential.
GenevisibleiQ9UBM7. HS.

Organism-specific databases

HPAiHPA044280.

Interactioni

Protein-protein interaction databases

BioGridi108063. 20 interactors.
IntActiQ9UBM7. 24 interactors.
MINTiMINT-4651013.
STRINGi9606.ENSP00000347717.

Chemistry databases

BindingDBiQ9UBM7.

Structurei

3D structure databases

ProteinModelPortaliQ9UBM7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ERG4/ERG24 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1435. Eukaryota.
ENOG410XP67. LUCA.
GeneTreeiENSGT00390000000417.
HOGENOMiHOG000193296.
HOVERGENiHBG007825.
InParanoidiQ9UBM7.
KOiK00213.
OMAiYFYIIYM.
OrthoDBiEOG091G0F22.
PhylomeDBiQ9UBM7.
TreeFamiTF101180.

Family and domain databases

InterProiView protein in InterPro
IPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
PfamiView protein in Pfam
PF01222. ERG4_ERG24. 1 hit.
PROSITEiView protein in PROSITE
PS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UBM7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA
60 70 80 90 100
PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY
110 120 130 140 150
TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA
160 170 180 190 200
WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY
210 220 230 240 250
FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL
260 270 280 290 300
INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD
310 320 330 340 350
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI
360 370 380 390 400
FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW
410 420 430 440 450
GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR
460 470
CASKYGRDWE RYTAAVPYRL LPGIF
Length:475
Mass (Da):54,489
Last modified:May 1, 2000 - v1
Checksum:i7D726443834C4EEB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti14S → A in AAC18345 (PubMed:9634533).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0674565S → L2 PublicationsCorresponds to variant dbSNP:rs1127869Ensembl.1
Natural variantiVAR_01271751P → S in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs104886035Ensembl.1
Natural variantiVAR_02314868L → P in SLOS. 1 PublicationCorresponds to variant dbSNP:rs104886038Ensembl.1
Natural variantiVAR_01271893T → M in SLOS. 4 PublicationsCorresponds to variant dbSNP:rs80338853Ensembl.1
Natural variantiVAR_01271999L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs104886041Ensembl.1
Natural variantiVAR_023149107Q → H in SLOS. 1 PublicationCorresponds to variant dbSNP:rs104886040Ensembl.1
Natural variantiVAR_023150109L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121912195Ensembl.1
Natural variantiVAR_023151113S → C in SLOS. 1 Publication1
Natural variantiVAR_074180118C → R1 Publication1
Natural variantiVAR_012720119H → L in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs28938174Ensembl.1
Natural variantiVAR_023152138G → V in SLOS. 1 Publication1
Natural variantiVAR_023153145I → L in SLOS. 1 Publication1
Natural variantiVAR_023154147G → D in SLOS. 1 PublicationCorresponds to variant dbSNP:rs777425801Ensembl.1
Natural variantiVAR_023155154T → M in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs143312232Ensembl.1
Natural variantiVAR_012721157L → P in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs753960624Ensembl.1
Natural variantiVAR_023156169S → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs80338855Ensembl.1
Natural variantiVAR_023157182W → C in SLOS. 1 Publication1
Natural variantiVAR_023158182W → L in SLOS. 1 Publication1
Natural variantiVAR_023159183C → Y in SLOS. 1 Publication1
Natural variantiVAR_023160198K → E in SLOS. 1 Publication1
Natural variantiVAR_023161235F → S in SLOS. 1 Publication1
Natural variantiVAR_023162242R → C in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs80338856Ensembl.1
Natural variantiVAR_023163242R → H in SLOS. 1 PublicationCorresponds to variant dbSNP:rs80338857Ensembl.1
Natural variantiVAR_012722244G → R in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121909764Ensembl.1
Natural variantiVAR_012723247A → V in SLOS. 2 Publications1
Natural variantiVAR_012724248W → C in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs28939698Ensembl.1
Natural variantiVAR_023164255F → L in SLOS. 1 Publication1
Natural variantiVAR_023165281V → M in SLOS. 1 PublicationCorresponds to variant dbSNP:rs398123607Ensembl.1
Natural variantiVAR_012725289T → I in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs121909765Ensembl.1
Natural variantiVAR_023166297I → T in SLOS. 1 Publication1
Natural variantiVAR_023167311C → G in SLOS. 1 Publication1
Natural variantiVAR_023168311C → Y in SLOS. 1 Publication1
Natural variantiVAR_023169324Y → H in SLOS. 1 Publication1
Natural variantiVAR_012726326V → L in SLOS. 3 PublicationsCorresponds to variant dbSNP:rs80338859Ensembl.1
Natural variantiVAR_023170344G → R in SLOS. 1 Publication1
Natural variantiVAR_023171352R → Q in SLOS. 1 PublicationCorresponds to variant dbSNP:rs121909768Ensembl.1
Natural variantiVAR_012727352R → W in SLOS. 3 PublicationsCorresponds to variant dbSNP:rs80338860Ensembl.1
Natural variantiVAR_023172353V → A in SLOS. 1 Publication1
Natural variantiVAR_023173362R → C in SLOS. 1 PublicationCorresponds to variant dbSNP:rs371302153Ensembl.1
Natural variantiVAR_023174380C → R in SLOS. 1 PublicationCorresponds to variant dbSNP:rs373306653Ensembl.1
Natural variantiVAR_012728380C → S in SLOS. 2 Publications1
Natural variantiVAR_023175380C → Y in SLOS. 1 PublicationCorresponds to variant dbSNP:rs779709646Ensembl.1
Natural variantiVAR_023176397S → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs773134475Ensembl.1
Natural variantiVAR_012729404R → C in SLOS. 4 PublicationsCorresponds to variant dbSNP:rs61757582Ensembl.1
Natural variantiVAR_023177404R → S in SLOS. 1 Publication1
Natural variantiVAR_023178405H → Y in SLOS. 1 Publication1
Natural variantiVAR_023179408Y → H in SLOS. 2 Publications1
Natural variantiVAR_023180410G → R in SLOS. 1 Publication1
Natural variantiVAR_012730410G → S in SLOS. 2 PublicationsCorresponds to variant dbSNP:rs80338862Ensembl.1
Natural variantiVAR_052154425G → S. Corresponds to variant dbSNP:rs760242Ensembl.1
Natural variantiVAR_023181426H → P in SLOS. 1 Publication1
Natural variantiVAR_023182443R → C in SLOS. 1 PublicationCorresponds to variant dbSNP:rs535561852Ensembl.1
Natural variantiVAR_023183446R → Q in SLOS. 1 PublicationCorresponds to variant dbSNP:rs751604696Ensembl.1
Natural variantiVAR_016975448E → K in SLOS; mild. 2 PublicationsCorresponds to variant dbSNP:rs80338864Ensembl.1
Natural variantiVAR_023184448E → Q in SLOS. 1 Publication1
Natural variantiVAR_023185450R → L in SLOS. 1 PublicationCorresponds to variant dbSNP:rs542266962Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF096305 mRNA. Translation: AAD09766.1.
AF034544 mRNA. Translation: AAC05086.1.
AF110060 Genomic DNA. Translation: AAD24762.1.
AF067127 mRNA. Translation: AAD02816.1.
AK312775 mRNA. Translation: BAG35639.1.
BC000054 mRNA. Translation: AAH00054.1.
AF062481 mRNA. Translation: AAC18345.1.
CCDSiCCDS8200.1.
RefSeqiNP_001157289.1. NM_001163817.1.
NP_001351.2. NM_001360.2.
UniGeneiHs.503134.

Genome annotation databases

EnsembliENST00000355527; ENSP00000347717; ENSG00000172893.
ENST00000407721; ENSP00000384739; ENSG00000172893.
GeneIDi1717.
KEGGihsa:1717.
UCSCiuc001oqk.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDHCR7_HUMAN
AccessioniPrimary (citable) accession number: Q9UBM7
Secondary accession number(s): B2R6Z2, O60492, O60717
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2000
Last modified: September 27, 2017
This is version 169 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families