KEGG   Homo sapiens (human): 3284
Entry
3284              CDS       T01001                                 
Symbol
HSD3B2, HSD3B, HSDB, SDR11E2
Name
(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 syndrome
Module
hsa_M00107  Steroid hormone biosynthesis, cholesterol => pregnenolone => progesterone
hsa_M00110  C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
hsa_M00976  C19-Steroid hormone biosynthesis, pregnenolone => testosterone => dihydrotestosterone
hsa_M00977  C19-Steroid hormone biosynthesis (androgen backdoor pathway), pregnenolone => androsterone => dihydrotestosterone
Network
nt06019  Steroid hormone biosynthesis
  Element
N00759  Steroid hormone biosynthesis, cholesterol to pregnenolone/progesterone
N01541  Testosterone biosynthesis
N01802  Dihydrotestosterone biosynthesis
Disease
H00216  Congenital adrenal hyperplasia
Drug target
Epostane: D04035
Trilostane: D01180<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00140 Steroid hormone biosynthesis
    3284 (HSD3B2)
 09150 Organismal Systems
  09152 Endocrine system
   04913 Ovarian steroidogenesis
    3284 (HSD3B2)
   04925 Aldosterone synthesis and secretion
    3284 (HSD3B2)
   04927 Cortisol synthesis and secretion
    3284 (HSD3B2)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing 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)
SSDB
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 Ilm1 Semialdhyde_dh
Other DBs
NCBI-GeneID: 3284
NCBI-ProteinID: NP_000189
OMIM: 613890
HGNC: 5218
Ensembl: ENSG00000203859
UniProt: P26439
Position
1:119414931..119423034
AA seq 372 aa
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ
NT seq 1119 nt   +upstreamnt  +downstreamnt
atgggctggagctgccttgtgacaggagcaggagggcttctgggtcagaggatcgtccgc
ctgttggtggaagagaaggaactgaaggagatcagggccttggacaaggccttcagacca
gaattgagagaggaattttctaagctccagaacaggaccaagctgactgtacttgaagga
gacattctggatgagccattcctgaaaagagcctgccaggacgtctcggtcgtcatccac
accgcctgtatcattgatgtctttggtgtcactcacagagagtccatcatgaatgtcaat
gtgaaaggtacccagctactgttggaggcctgtgtccaagccagtgtgccagtcttcatc
tacaccagtagcatagaggtagccgggcccaactcctacaaggaaatcatccagaacggc
cacgaagaagagcctctggaaaacacatggcccactccatacccgtacagcaaaaagctt
gctgagaaggctgtgctggcggctaatgggtggaatctaaaaaatggtgataccttgtac
acttgtgcgttaagacccacatatatctatggggaaggaggcccattcctttctgccagt
ataaatgaggccctgaacaacaatgggatcctgtcaagtgttggaaagttctctacagtc
aacccagtctatgttggcaacgtggcctgggcccacattctggccttgagggctctgcgg
gaccccaagaaggccccaagtgtccgaggtcaattctattacatctcagatgacacgcct
caccaaagctatgataaccttaattacatcctgagcaaagagtttggcctccgccttgat
tccagatggagccttcctttaaccctgatgtactggattggcttcctgctggaagtagtg
agcttcctactcagcccaatttactcctatcaaccccccttcaaccgccacacagtcaca
ttatcaaatagtgtgttcaccttctcttacaagaaggctcagcgagatctggcgtataag
ccactctacagctgggaggaagccaagcagaaaaccgtggagtgggttggttcccttgtg
gaccggcacaaggagaccctgaagtccaagactcagtga

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (10)   
   KEGG PATHWAY (6)   
   KEGG MODULE (4)   
Network (4)   
   KEGG NETWORK (4)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (2)   
   KEGG DRUG (2)   
Chemical substance (19)   
   KEGG COMPOUND (19)   
Chemical reaction (10)   
   KEGG ENZYME (2)   
   KEGG REACTION (8)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (18)   
   RefSeq(nuc) (2)   
   GenBank (8)   
   EMBL (8)   
Protein domain (12)   
   Pfam (12)   
All databases (96)   

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