Gene Symbol | DHCR7 |
Entrez ID | 1717 |
Uniprot ID | Q9UBM7 |
Description | 7-dehydrocholesterol reductase |
Chromosomal Location | chr11: 71,428,193-71,452,868 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001568 |
blood vessel development |
The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. |
IEA |
BP |
GO:0006695 |
cholesterol biosynthetic process |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
IMP |
BP |
GO:0009791 |
post-embryonic development |
The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
IEA |
BP |
GO:0030154 |
cell differentiation |
The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
IEA |
BP |
GO:0030324 |
lung development |
The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
IEA |
BP |
GO:0033489 |
cholesterol biosynthetic process via desmosterol |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate desmosterol. |
TAS |
BP |
GO:0033490 |
cholesterol biosynthetic process via lathosterol |
The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. |
TAS |
BP |
GO:0035264 |
multicellular organism growth |
The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
IEA |
BP |
GO:0042127 |
regulation of cell proliferation |
Any process that modulates the frequency, rate or extent of cell proliferation. |
IEA |
BP |
GO:0045540 |
regulation of cholesterol biosynthetic process |
Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. |
IEA |
BP |
GO:0055114 |
oxidation-reduction process |
A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. |
IEA |
CC |
GO:0005640 |
nuclear outer membrane |
The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. |
IDA |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
TAS |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0030176 |
integral component of endoplasmic reticulum membrane |
The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IBA |
MF |
GO:0047598 |
7-dehydrocholesterol reductase activity |
Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. |
EXP|IDA |
MF |
GO:0050661 |
NADP binding |
Interacting selectively and non-covalently with nicotinamide-adenine dinucleotide phosphate, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NADP+, or the reduced form, NADPH. |
ISS |
Domain ID | Description |
---|---|
IPR001171 |
Ergosterol biosynthesis ERG4/ERG24 |
IPR018083 |
Sterol reductase, conserved site |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa00100 |
Steroid biosynthesis |
KEGG |
hsa01100 |
Metabolic pathways |
KEGG |
WP1531 |
Vitamin D Metabolism |
WikiPathways |
WP197 |
Cholesterol Biosynthesis |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0004352 |
Autistic Disorder |
C0005944 |
Metabolic Bone Disorder |
C0023890 |
Liver Cirrhosis |
C0175694 |
Smith-Lemli-Opitz Syndrome |
C2713347 |
7-Dehydrocholesterol Reductase Deficiency |
Tissue | Cell Type |
---|---|
appendix |
glandular cells |
appendix |
lymphoid tissue |
breast |
glandular cells |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
neuronal cells |
duodenum |
glandular cells |
endometrium |
cells in endometrial stroma |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
hippocampus |
neuronal cells |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
ovary |
follicle cells |
pancreas |
exocrine glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
seminal vesicle |
glandular cells |
skin |
epidermal cells |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
tonsil |
squamous epithelial cells |
urinary bladder |
urothelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
E2F3 |
1871 |
O00716 |
0.07 |
TCTN3 |
26123 |
Q6NUS6 |
0.49 |
TCTN2 |
79867 |
Q96GX1 |
0.49 |
ERBB2 |
2064 |
P04626 |
0.63 |
ILK |
3611 |
Q13418 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
STAU1 |
6780 |
O95793 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
TNIK |
23043 |
Q9UKE5 |
0.63 |
AGO2 |
27161 |
Q9UKV8 |
0.63 |
MMS19 |
64210 |
Q96T76 |
0.63 |
LTN1 |
26046 |
O94822 |
0.72 |
ACP6 |
51205 |
Q9NPH0 |
0.72 |
TOR1A |
1861 |
O14656 |
0.76 |
FADS1 |
3992 |
O60427 |
0.76 |
NDN |
4692 |
Q99608 |
0.76 |