Protein Description

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

No databases found.

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