KEGG   Homo sapiens (human): 3284Help
Entry
3284              CDS       T01001                                 

Gene name
HSD3B2, HSD3B, HSDB, SDR11E2
Definition
(RefSeq) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  KO
K00070  3beta-hydroxy-Delta5-steroid dehydrogenase / steroid Delta-isomerase [EC:1.1.1.145 5.3.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00140  Steroid hormone biosynthesis
hsa01100  Metabolic pathways
hsa04913  Ovarian steroidogenesis
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04934  Cushing's syndrome
Module
hsa_M00107  Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone
hsa_M00110  C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
Network
N00338  Cortisol biosynthesis
N00339  Aldosterone biosynthesis
Disease
H00216  Congenital adrenal hyperplasia (CAH)
H00599  46,XX disorders of sex development (Disorders related to androgen excess)
H00608  46,XY disorders of sex development (Disorders in androgen synthesis or action)
Drug target
Epostane: D04035
Trilostane: D01180
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  Lipid metabolism
   00140 Steroid hormone biosynthesis
    3284 (HSD3B2)
 Organismal Systems
  Endocrine system
   04913 Ovarian Steroidogenesis
    3284 (HSD3B2)
   04925 Aldosterone synthesis and secretion
    3284 (HSD3B2)
   04927 Cortisol synthesis and secretion
    3284 (HSD3B2)
 Human Diseases
  Endocrine and metabolic diseases
   04934 Cushing's syndrome
    3284 (HSD3B2)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.145  3beta-hydroxy-Delta5-steroid dehydrogenase
     3284 (HSD3B2)
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.3  Transposing C=C bonds
    5.3.3.1  steroid Delta-isomerase
     3284 (HSD3B2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 3Beta_HSD Epimerase NAD_binding_4 GDP_Man_Dehyd Polysacc_synt_2 NAD_binding_10 RmlD_sub_bind NmrA KR Ldh_1_N
Motif
Other DBs
NCBI-GeneID: 3284
NCBI-ProteinID: NP_000189
OMIM: 613890
HGNC: 5218
Ensembl: ENSG00000203859
Vega: OTTHUMG00000012526
Pharos: P26439(Tclin)
UniProt: P26439 A0A024R0F9
Position
1p12
AA seq 372 aa AA seqDB search
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ
NT seq 1119 nt NT seq  +upstreamnt  +downstreamnt
atgggctggagctgccttgtgacaggagcaggagggcttctgggtcagaggatcgtccgc
ctgttggtggaagagaaggaactgaaggagatcagggccttggacaaggccttcagacca
gaattgagagaggaattttctaagctccagaacaggaccaagctgactgtacttgaagga
gacattctggatgagccattcctgaaaagagcctgccaggacgtctcggtcgtcatccac
accgcctgtatcattgatgtctttggtgtcactcacagagagtccatcatgaatgtcaat
gtgaaaggtacccagctactgttggaggcctgtgtccaagccagtgtgccagtcttcatc
tacaccagtagcatagaggtagccgggcccaactcctacaaggaaatcatccagaacggc
cacgaagaagagcctctggaaaacacatggcccactccatacccgtacagcaaaaagctt
gctgagaaggctgtgctggcggctaatgggtggaatctaaaaaatggtgataccttgtac
acttgtgcgttaagacccacatatatctatggggaaggaggcccattcctttctgccagt
ataaatgaggccctgaacaacaatgggatcctgtcaagtgttggaaagttctctacagtc
aacccagtctatgttggcaacgtggcctgggcccacattctggccttgagggctctgcgg
gaccccaagaaggccccaagtgtccgaggtcaattctattacatctcagatgacacgcct
caccaaagctatgataaccttaattacatcctgagcaaagagtttggcctccgccttgat
tccagatggagccttcctttaaccctgatgtactggattggcttcctgctggaagtagtg
agcttcctactcagcccaatttactcctatcaaccccccttcaaccgccacacagtcaca
ttatcaaatagtgtgttcaccttctcttacaagaaggctcagcgagatctggcgtataag
ccactctacagctgggaggaagccaagcagaaaaccgtggagtgggttggttcccttgtg
gaccggcacaaggagaccctgaagtccaagactcagtga

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