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Identification
HMDB Protein ID HMDBP01629
Secondary Accession Numbers
  • 6952
Name 25-hydroxycholesterol 7-alpha-hydroxylase
Synonyms
  1. Cytochrome P450 7B1
  2. Oxysterol 7-alpha-hydroxylase
Gene Name CYP7B1
Protein Type Unknown
Biological Properties
General Function Involved in monooxygenase activity
Specific Function Not Available
Pathways
  • 27-Hydroxylase Deficiency
  • bile acid biosynthesis
  • Bile Acid Biosynthesis
  • Cerebrotendinous Xanthomatosis (CTX)
  • Congenital Bile Acid Synthesis Defect Type II
  • Congenital Bile Acid Synthesis Defect Type III
  • Familial Hypercholanemia (FHCA)
  • Primary bile acid biosynthesis
  • Steroid hormone biosynthesis
  • Zellweger Syndrome
Reactions
25-Hydroxycholesterol + NADPH + Oxygen → 7-a,25-Dihydroxycholesterol + NADP + Water details
27-Hydroxycholesterol + NADPH + Oxygen → 7-a,27-Dihydroxycholesterol + NADP + Water details
25-Hydroxycholesterol + NADPH + Hydrogen Ion + Oxygen → 7-a,25-Dihydroxycholesterol + NADP + Water details
27-Hydroxycholesterol + NADPH + Hydrogen Ion + Oxygen → 7-a,27-Dihydroxycholesterol + NADP + Water details
3 beta-Hydroxy-5-cholestenoate + Oxygen + NADPH + Hydrogen Ion → 3beta,7alpha-Dihydroxy-5-cholestenoate + NADP + Water details
Pregnenolone + NADPH + Hydrogen Ion + Oxygen → 7alpha-Hydroxypregnenolone + NADP + Water details
GO Classification
Biological Process
bile acid biosynthetic process
cholesterol metabolic process
response to drug
memory
xenobiotic metabolic process
negative regulation of intracellular estrogen receptor signaling pathway
positive regulation of epithelial cell proliferation
prostate gland epithelium morphogenesis
response to cAMP
circadian rhythm
cell death
Cellular Component
endoplasmic reticulum membrane
Function
ion binding
cation binding
metal ion binding
binding
catalytic activity
transition metal ion binding
electron carrier activity
iron ion binding
monooxygenase activity
heme binding
oxidoreductase activity
Molecular Function
electron carrier activity
iron ion binding
heme binding
oxysterol 7-alpha-hydroxylase activity
25-hydroxycholesterol 7alpha-hydroxylase activity
Cellular Location
  1. Peripheral membrane protein
  2. Peripheral membrane protein
  3. Endoplasmic reticulum membrane
  4. Microsome membrane
Gene Properties
Chromosome Location 8
Locus 8q21.3
SNPs CYP7B1
Gene Sequence
>1521 bp
ATGGCAGGAGAAGTGTCCGCGGCCACGGGCCGCTTTTCGCTGGAGCGGTTGGGCCTCCCG
GGCCTGGCCCTCGCCGCGGCCCTGCTGCTCCTGGCCCTCTGCTTGCTTGTCCGGCGCACC
AGGAGACCCGGTGAGCCTCCATTGATAAAAGGTTGGCTTCCTTATCTTGGAGTGGTCCTG
AACTTACGAAAAGACCCCTTAAGGTTCATGAAAACACTTCAAAAGCAACATGGTGACACT
TTCACAGTTCTTCTTGGTGGAAAGTACATAACATTTATCCTGGACCCCTTCCAGTACCAG
CTAGTGATAAAAAATCATAAACAATTAAGCTTTCGAGTATTTTCTAATAAATTATTAGAG
AAAGCATTTAGCATCAGTCAGTTGCAAAAAAATCATGACATGAATGATGAGCTTCACCTC
TGCTATCAATTTTTGCAAGGCAAATCTTTGGACATACTCTTGGAAAGCATGATGCAGAAT
CTAAAACAAGTTTTTGAACCCCAGCTGTTAAAAACCACAAGTTGGGACACGGCAGAACTG
TATCCATTCTGCAGCTCAATAATATTTGAGATCACATTTACAACTATATATGGAAAAGTT
ATTGTTTGTGACAACAACAAATTTATTAGTGAGCTAAGAGATGATTTTTTAAAATTTGAT
GACAAGTTTGCATATTTAGTATCCAACATACCCATTGAGCTTCTAGGAAATGTCAAGTCT
ATTAGAGAGAAAATTATAAAATGCTTCTCATCAGAAAAGTTAGCCAAGATGCAAGGATGG
TCAGAAGTTTTTCAAAGCAGGCAAGATGTCCTGGAGAAATATTATGTGCACGAGGACCTT
GAAATAGGAGCACATCATTTAGGCTTTCTCTGGGCCTCTGTGGCAAACACTATTCCAACT
ATGTTCTGGGCAATGTATTATCTTCTGCGGCACCCAGAAGCTATGGCAGCAGTGCGTGAC
GAAATTGACCATTTGCTGCAGTCAACAGGTCAAAAGAAAGGGTCTGGATTTCCCATCCAC
CTCACCAGAGAACAATTGGACAGCCTAATCTGCCTAGAAAGCAGCATTTTTGAAGCTTTA
CGACTGTCCTCATATTCAACCACCATTCGTTTTGTTGAGGAGGATTTGACTCTCAGTTCA
GAGACCGGGGACTACTGTGTGCGAAAGGGAGACTTGGTAGCCATCTTTCCTCCAGTCCTA
CATGGTGACCCTGAAATCTTTGAAGCTCCAGAGGAGTTTAGATATGATCGTTTTATAGAA
GATGGTAAGAAGAAAACCACCTTTTTCAAAAGAGGGAAAAAGCTGAAGTGTTACCTAATG
CCGTTTGGAACTGGAACCAGCAAATGTCCAGGCCGATTTTTTGCACTTATGGAAATAAAA
CAATTGTTGGTTATACTTTTAACTTATTTTGATTTAGAAATAATTGATGATAAGCCCATA
GGACTAAACTACAGCCGCTTGTTGTTTGGTATTCAGTATCCAGATTCTGATGTTTTATTT
AGATACAAAGTGAAATCTTAG
Protein Properties
Number of Residues 506
Molecular Weight 58255.325
Theoretical pI 8.014
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>25-hydroxycholesterol 7-alpha-hydroxylase
MAGEVSAATGRFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVL
NLRKDPLRFMKTLQKQHGDTFTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLE
KAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQNLKQVFEPQLLKTTSWDTAEL
YPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPT
MFWAMYYLLRHPEAMAAVRDEIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEAL
RLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVLHGDPEIFEAPEEFRYDRFIE
DGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS
GenBank ID Protein 3702794
UniProtKB/Swiss-Prot ID O75881
UniProtKB/Swiss-Prot Entry Name CP7B1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF029403
GeneCard ID CYP7B1
GenAtlas ID CYP7B1
HGNC ID HGNC:2652
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Setchell KD, Schwarz M, O'Connell NC, Lund EG, Davis DL, Lathe R, Thompson HR, Weslie Tyson R, Sokol RJ, Russell DW: Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest. 1998 Nov 1;102(9):1690-703. [PubMed:9802883 ]
  3. Wu Z, Martin KO, Javitt NB, Chiang JY: Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1. J Lipid Res. 1999 Dec;40(12):2195-203. [PubMed:10588945 ]
  4. Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH: Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18. [PubMed:18252231 ]