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FLASH GENE

Symbol

CYP7B1

contributors: mct/npt - updated : 22-02-2010

HGNC name	cytochrome P450, family 7, subfamily B, polypeptide 1
HGNC id	2652

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004820 6 - 2395 NP_004811 - 506 - Stiles (2009)

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver           mouth tongue     highly Lymphoid/Immune spleen       highly Nervous brain limbic system hippocampus   highly Reproductive female system breast mammary gland   highly   male system testis         male system prostate       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Nervous pyramidal cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY	cytochrome P450, subfamily VIIB
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	catalyzing the first and rate-limiting step in the coonversion of cholesterol to bile acids
	playing a role in the alternative bile acid synthesis pathway
	hydroxylates carbons 6 and 7 of the B ring of oxysterols and steroids (Stiles 2009)
	balancing prostate hormone levels in human cells
	importance of CYP7B1 in bile salt synthesis and the role of the enzyme in the inactivation of otherwise hepatotoxic oxysterols (Stiles 2009)
	CYP7B1-mediated catalysis may play a role for control of the cellular levels of androgens, not only of estrogens (Pettersson 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

lipid/lipoprotein

signaling

pathway for cholesterol degradation

a component

component of the acidic pathway of primary bile acids synthesis

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH
	heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

Other

regulated by Sp1 (transcriptional regulation)

ASSOCIATED DISORDERS

corresponding disease(s)

CYP7B1 , SPG5A

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function loss of CYP7B1 activity is associated with liver failure in children (Stiles 209)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS