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Identification
HMDB Protein ID HMDBP04980
Secondary Accession Numbers
  • 10575
Name 3 beta-hydroxysteroid dehydrogenase type 7
Synonyms
  1. 3 beta-hydroxysteroid dehydrogenase type VII
  2. 3-beta-HSD VII
  3. 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase
  4. C(27) 3-beta-HSD
  5. Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase
Gene Name HSD3B7
Protein Type Unknown
Biological Properties
General Function Involved in 3-beta-hydroxy-delta5-steroid dehydrogenase activity
Specific Function The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis.
Pathways
  • 27-Hydroxylase Deficiency
  • 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 biosynthesis
  • Zellweger Syndrome
Reactions
3-beta-hydroxy-Delta(5)-steroid + NAD → 3-oxo-Delta(5)-steroid + NADH details
Cholest-5-ene-3-beta,7-alpha-diol + NAD → 7a-Hydroxy-cholestene-3-one + NADH details
7a-Hydroxycholesterol + NAD → 7a-Hydroxy-cholestene-3-one + NADH + Hydrogen Ion details
(24S)-7alpha,24-Dihydroxycholesterol + NAD → 7 alpha,24-Dihydroxy-4-cholesten-3-one + NADH + Hydrogen Ion details
7-a,25-Dihydroxycholesterol + NAD → 7alpha,25-Dihydroxy-4-cholesten-3-one + NADH + Hydrogen Ion details
7-a,27-Dihydroxycholesterol + NAD → 7 alpha,26-Dihydroxy-4-cholesten-3-one + NADH + Hydrogen Ion details
3beta,7alpha-Dihydroxy-5-cholestenoate + NAD → 7alpha-Hydroxy-3-oxo-4-cholestenoate + NADH + Hydrogen Ion details
GO Classification
Biological Process
bile acid biosynthetic process
regulation of cell growth
Cellular Component
endoplasmic reticulum membrane
integral to membrane
Function
binding
catalytic activity
oxidoreductase activity
steroid dehydrogenase activity
steroid dehydrogenase activity, acting on the ch-oh group of donors, nad or nadp as acceptor
3-beta-hydroxy-delta5-steroid dehydrogenase activity
Molecular Function
cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity
3-beta-hydroxy-delta5-steroid dehydrogenase activity
nucleotide binding
Process
metabolic process
primary metabolic process
lipid metabolic process
steroid metabolic process
steroid biosynthetic process
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location 16
Locus 16p11.2
SNPs HSD3B7
Gene Sequence
>1110 bp
ATGGCCGACTCTGCACAGGCCCAGAAGCTGGTGTACCTGGTCACAGGGGGCTGTGGCTTC
CTGGGAGAGCACGTGGTGCGGATGCTGCTGCAGCGGGAGCCCCGACTCGGGGAGCTGCGG
GTCTTTGACCAACACCTGGGTCCCTGGCTGGAGGAGCTGAAGACAGGGCCTGTGAGGGTG
ACTGCCATCCAGGGGGACGTGACCCAGGCCCATGAGGTGGCAGCAGCTGTGGCCGGAGCC
CATGTGGTCATCCACACGGCTGGGCTGGTAGACGTGTTTGGCAGGGCCAGTCCCAAGACC
ATCCATGAGGTCAACGTGCAGGGTACCCGGAACGTGATCGAGGCTTGTGTGCAGACCGGA
ACACGGTTCCTGGTCTACACCAGCAGCATGGAAGTTGTGGGGCCTAACACCAAAGGTCAC
CCCTTCTACAGGGGCAACGAAGACACCCCATACGAAGCAGTGCACAGGCACCCCTATCCT
TGCAGCAAGGCCCTGGCCGAGTGGCTGGTCCTGGAGGCCAACGGGAGGAAGGTCCGTGGG
GGGCTGCCCCTGGTGACGTGTGCCCTTCGTCCCACGGGCATCTACGGTGAAGGCCACCAG
ATCATGAGGGACTTCTACCGCCAGGGCCTGCGCCTGGGAGGTTGGCTCTTCCGGGCCATC
CCGGCCTCTGTGGAGCATGGCCGGGTCTATGTGGGCAATGTTGCCTGGATGCACGTGCTG
GCAGCCCGGGAGCTGGAGCAGCGGGCAGCCCTGATGGGCGGCCAGGTATACTTCTGCTAC
GATGGATCACCCCACAGGAGCTACGAGGATTTCAACATGGAGTTCCTGGGCCCCTGCGGA
CTGCGGCTGGTGGGCGCCCGCCCATTGCTGCCCTACTGGCTGCTGGTGTTCCTGGCTGCC
CTCAATGCCCTGCTGCAGTGGCTGCTGCGGCCACTGGTGCTCTACGCACCCCTGCTGAAC
CCCTACACGCTGGCCGTGGCCAACGCCACCTTCACCGTCAGCACCGACAAGGCTCAGCGC
CATTTCGGCTATGAGCCCCTGTTCTCGTGGGAGGATAGCCGGACCCGCACCATTCTCTGG
GTACAGGCCGCTACGGGTTCAGCCCAGTGA
Protein Properties
Number of Residues 369
Molecular Weight 21322.265
Theoretical pI 7.236
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>3 beta-hydroxysteroid dehydrogenase type 7
MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
VQAATGSAQ
GenBank ID Protein 11545403
UniProtKB/Swiss-Prot ID Q9H2F3
UniProtKB/Swiss-Prot Entry Name 3BHS7_HUMAN
PDB IDs Not Available
GenBank Gene ID AF277719
GeneCard ID HSD3B7
GenAtlas ID HSD3B7
HGNC ID HGNC:18324
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. Schwarz M, Wright AC, Davis DL, Nazer H, Bjorkhem I, Russell DW: The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest. 2000 Nov;106(9):1175-84. [PubMed:11067870 ]
  3. Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW: Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. J Clin Endocrinol Metab. 2003 Apr;88(4):1833-41. [PubMed:12679481 ]