CYP7B1
entrez
9420
canonical
uniprot
O75881
canonical
ensembl
ENSG00000172817
resolver
ensp
ENSP00000310721
resolver
ensp
ENSP00000534494
resolver
ensp
ENSP00000534495
resolver
ensp
ENSP00000779666
resolver
enst
ENST00000310193
resolver
enst
ENST00000864435
resolver
genesymbol
CYP7B1
resolver
hgnc
HGNC:2652
resolver
uniprot
B2RN07
resolver
uniprot
Q05C57
resolver
uniprot
Q9UNF5
resolver
uniprot_entry
CP7B1_HUMAN
resolver
uniprot_entry
Q05C57_HUMAN
resolver
uniprot_sec
B2RN07
resolver
uniprot_sec
Q9UNF5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by drugs voriconazole and metyrapone. {ECO:0000269|PubMed:24491228}.
uniprot
proteins
amino_acid_sequence
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKSIREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPIGLNYSRLLFGIQYPDSDVLFRYKVKS
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 5A, autosomal recessive (SPG5A) [MIM:270800]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:18252231, ECO:0000269|PubMed:19439420, ECO:0000269|PubMed:21214876, ECO:0000269|PubMed:24117163, ECO:0000269|PubMed:26714052, ECO:0000269|PubMed:27217339}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital bile acid synthesis defect 3 (CBAS3) [MIM:613812]: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. {ECO:0000269|PubMed:9802883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.26
uniprot
proteins
ec_number
1.14.14.29
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase involved in the metabolism of endogenous oxysterols and steroid hormones, including neurosteroids (PubMed:10588945, PubMed:24491228). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:10588945, PubMed:24491228). Catalyzes the hydroxylation of carbon hydrogen bonds of steroids with a preference for 7-alpha position (PubMed:10588945, PubMed:24491228). Usually metabolizes steroids carrying a hydroxy group at position 3, functioning as a 3-hydroxy steroid 7-alpha hydroxylase (PubMed:24491228). Hydroxylates oxysterols, including 25-hydroxycholesterol and (25R)-cholest-5-ene-3beta,26-diol toward 7-alpha hydroxy derivatives, which may be transported to the liver and converted to bile acids (PubMed:10588945, PubMed:9802883). Via its product 7-alpha,25-dihydroxycholesterol, a ligand for the chemotactic G protein-coupled receptor GPR183/EBI2, regulates B cell migration in germinal centers of lymphoid organs, thus guiding efficient maturation of plasma B cells and overall antigen-specific humoral immune response (By similarity). 7-alpha hydroxylates neurosteroids, including 3beta-hydroxyandrost-5-en-17-one (dehydroepiandrosterone) and pregnenolone, both involved in hippocampus-associated memory and learning (PubMed:24491228). Metabolizes androstanoids toward 6- or 7-alpha hydroxy derivatives (PubMed:24491228). {ECO:0000250|UniProtKB:Q60991, ECO:0000269|PubMed:10588945, ECO:0000269|PubMed:24491228, ECO:0000269|PubMed:9802883}.
uniprot
proteins
mass_dalton
58256
uniprot
proteins
pathway_participation
PATHWAY: Lipid metabolism; bile acid biosynthesis. {ECO:0000269|PubMed:10588945, ECO:0000269|PubMed:9802883}.; PATHWAY: Steroid hormone biosynthesis. {ECO:0000269|PubMed:24491228}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10588945
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18252231
uniprot
proteins
pubmed
19439420
uniprot
proteins
pubmed
21214876
uniprot
proteins
pubmed
24117163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24491228
uniprot
proteins
pubmed
26714052
uniprot
proteins
pubmed
27217339
uniprot
proteins
pubmed
9802883
uniprot
proteins
sequence_length
506
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:9802883}; Multi-pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000305|PubMed:9802883}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 17..37; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 289..309; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins