NameTestosterone 17-beta-dehydrogenase 3
Synonyms
  • 1.1.1.64
  • 17-beta-HSD 3
  • 17-beta-hydroxysteroid dehydrogenase type 3
  • EDH17B3
  • SDR12C2
  • Short chain dehydrogenase/reductase family 12C member 2
  • Testicular 17-beta-hydroxysteroid dehydrogenase
Gene NameHSD17B3
OrganismHuman
Amino acid sequence
>lcl|BSEQ0000669|Testosterone 17-beta-dehydrogenase 3
MGDVLEQFFILTGLLVCLACLAKCVRFSRCVLLNYWKVLPKSFLRSMGQWAVITGAGDGI
GKAYSFELAKRGLNVVLISRTLEKLEAIATEIERTTGRSVKIIQADFTKDDIYEHIKEKL
AGLEIGILVNNVGMLPNLLPSHFLNAPDEIQSLIHCNITSVVKMTQLILKHMESRQKGLI
LNISSGIALFPWPLYSMYSASKAFVCAFSKALQEEYKAKEVIIQVLTPYAVSTAMTKYLN
TNVITKTADEFVKESLNYVTIGGETCGCLAHEILAGFLSLIPAWAFYSGAFQRLLLTHYV
AYLKLNTKVR
Number of residues310
Molecular Weight34515.345
Theoretical pI8.84
GO Classification
Functions
  • testosterone 17-beta-dehydrogenase (NADP+) activity
Processes
  • male genitalia development
  • small molecule metabolic process
  • steroid metabolic process
  • androgen biosynthetic process
  • testosterone biosynthetic process
Components
  • endoplasmic reticulum membrane
  • intracellular membrane-bounded organelle
General FunctionTestosterone 17-beta-dehydrogenase (nadp+) activity
Specific FunctionFavors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein ID531162
UniProtKB IDP37058
UniProtKB Entry NameDHB3_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0010251|Testosterone 17-beta-dehydrogenase 3 (HSD17B3)
ATGGGGGACGTCCTGGAACAGTTCTTCATCCTCACAGGGCTGCTGGTGTGCCTGGCCTGC
CTGGCGAAGTGCGTGAGATTCTCCAGATGTGTTTTACTGAACTACTGGAAAGTTTTGCCA
AAGTCTTTCTTGCGGTCAATGGGACAGTGGGCAGTGATCACTGGAGCAGGCGATGGAATT
GGGAAAGCGTACTCGTTCGAGCTAGCAAAACGTGGACTCAATGTTGTCCTTATTAGCCGG
ACGCTGGAAAAACTAGAGGCCATTGCCACAGAGATCGAGCGGACTACAGGGAGGAGTGTG
AAGATTATACAAGCAGATTTTACAAAAGATGACATCTACGAGCATATTAAAGAAAAACTT
GCAGGCTTAGAAATTGGAATTTTAGTCAACAATGTCGGAATGCTTCCAAACCTTCTCCCA
AGCCATTTCCTGAACGCACCGGATGAAATCCAGAGCCTCATCCATTGTAACATCACCTCC
GTAGTCAAGATGACACAGCTAATTCTGAAACATATGGAATCAAGGCAGAAAGGTCTCATC
CTGAACATTTCTTCTGGGATAGCCCTGTTTCCTTGGCCTCTCTACTCCATGTACTCAGCT
TCCAAGGCGTTTGTGTGCGCATTTTCCAAGGCCCTGCAAGAGGAATATAAAGCAAAAGAA
GTCATCATCCAGGTGCTGACCCCATATGCTGTCTCGACTGCAATGACAAAGTATCTAAAT
ACAAATGTGATAACCAAGACTGCTGATGAGTTTGTCAAAGAGTCATTGAATTATGTCACA
ATTGGAGGTGAAACCTGTGGCTGCCTTGCCCATGAAATCTTGGCGGGCTTTCTGAGCCTG
ATCCCGGCCTGGGCCTTCTACAGCGGTGCCTTCCAAAGGCTGCTCCTGACACACTATGTG
GCATACCTGAAGCTCAACACCAAGGTCAGGTAG
GenBank Gene IDU05659
GeneCard IDNot Available
GenAtlas IDHSD17B3
HGNC IDHGNC:5212
Chromosome Location9
Locus9q22
References
  1. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S: Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994 May;7(1):34-9. 8075637
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  4. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, Schwarz HP, Blethen SL, Mendonca BB, Bloise W, Witchel SF, Cutler GB Jr, Griffin JE, Wilson JD, Russel DW: Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996 Jan;81(1):130-6. 8550739
  5. Bilbao JR, Loridan L, Audi L, Gonzalo E, Castano L: A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. Eur J Endocrinol. 1998 Sep;139(3):330-3. 9758445
  6. Moghrabi N, Hughes IA, Dunaif A, Andersson S: Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab. 1998 Aug;83(8):2855-60. 9709959
  7. Lindqvist A, Hughes IA, Andersson S: Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 2001 Feb;86(2):921-3. 11158067