KEGG   Homo sapiens (human): 3283
Entry
3283              CDS       T01001                                 

Gene name
HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
Definition
(RefSeq) hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  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 => prognenolone => progesterone
hsa_M00110  C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
Network
nt06019  Steroid hormone biosynthesis
  Element
N00759  Steroid hormone biosynthesis, cholesterol to prognenolone/progesterone
N00764  CYP11A1 deficiency in steroid hormone biosynthesis
Drug target
Epostane: D04035
Trilostane: D01180<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00140 Steroid hormone biosynthesis
    3283 (HSD3B1)
 09150 Organismal Systems
  09152 Endocrine system
   04913 Ovarian steroidogenesis
    3283 (HSD3B1)
   04925 Aldosterone synthesis and secretion
    3283 (HSD3B1)
   04927 Cortisol synthesis and secretion
    3283 (HSD3B1)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    3283 (HSD3B1)
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
     3283 (HSD3B1)
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.3  Transposing C=C bonds
    5.3.3.1  steroid Delta-isomerase
     3283 (HSD3B1)
SSDB
Motif
Pfam: 3Beta_HSD Epimerase NAD_binding_4 GDP_Man_Dehyd Polysacc_synt_2 NAD_binding_10 RmlD_sub_bind KR NmrA Ldh_1_N Semialdhyde_dh Ilm1
Other DBs
NCBI-GeneID: 3283
NCBI-ProteinID: NP_000853
OMIM: 109715
HGNC: 5217
Ensembl: ENSG00000203857
Vega: OTTHUMG00000012525
Pharos: P14060(Tchem)
UniProt: P14060
LinkDB
Position
1p12
AA seq 373 aa
MTGWSCLVTGAGGFLGQRIIRLLVKEKELKEIRVLDKAFGPELREEFSKLQNKTKLTVLE
GDILDEPFLKRACQDVSVIIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVF
IYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPAPYPHSKKLAEKAVLAANGWNLKNGGTL
YTCALRPMYIYGEGSRFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRAL
QDPKKAPSIRGQFYYISDDTPHQSYDNLNYTLSKEFGLRLDSRWSFPLSLMYWIGFLLEI
VSFLLRPIYTYRPPFNRHIVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSL
VDRHKETLKSKTQ
NT seq 1122 nt   +upstreamnt  +downstreamnt
atgacgggctggagctgccttgtgacaggagcaggagggtttctgggacagaggatcatc
cgcctcttggtgaaggagaaggagctgaaggagatcagggtcttggacaaggccttcgga
ccagaattgagagaggaattttctaaactccagaacaagaccaagctgacagtgctggaa
ggagacattctggatgagccattcctgaagagagcctgccaggacgtctcggtcatcatc
cacaccgcctgtatcattgatgtcttcggtgtcactcacagagagtctatcatgaatgtc
aatgtgaaaggtacccagctcctgttagaggcctgtgtccaagctagtgtgccagtcttc
atctacaccagtagcatagaggtagccgggcccaactcctacaaggaaatcatccagaat
ggccatgaagaagagcctctggaaaacacatggcccgctccatacccacacagcaaaaag
cttgctgagaaggctgtactggcggctaacgggtggaatctgaaaaacggcggcaccctg
tacacttgtgccttacgacccatgtatatctatggggaaggaagccgattcctttctgct
agtataaacgaggccctgaacaacaatgggatcctgtcaagtgttggaaagttctccact
gttaacccagtctatgttggcaatgtggcctgggcccacattctggccttgagggccctg
caggaccccaagaaggccccaagcatccgaggacagttctactatatctcagatgacacg
cctcaccaaagctatgataaccttaattacaccctgagcaaagagttcggcctccgcctt
gattccagatggagctttcctttatccctgatgtattggattggcttcctgctggaaata
gtgagcttcctactcaggccaatttacacctatcgaccgcccttcaaccgccacatagtc
acattgtcaaatagcgtattcaccttctcttataagaaggctcagcgagatctggcgtat
aagccactctacagctgggaggaagccaagcagaaaacggtggagtgggttggttccctt
gtggaccggcacaaggagaccctgaagtccaagactcagtga

KEGG   Homo sapiens (human): 3284
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 syndrome
Module
hsa_M00107  Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone
hsa_M00110  C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
Network
nt06019  Steroid hormone biosynthesis
  Element
N00759  Steroid hormone biosynthesis, cholesterol to prognenolone/progesterone
N00763  HSD3B2 deficiency in steroid hormone biosynthesis
N00764  CYP11A1 deficiency in steroid hormone 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
Other DBs
NCBI-GeneID: 3284
NCBI-ProteinID: NP_000189
OMIM: 613890
HGNC: 5218
Ensembl: ENSG00000203859
Vega: OTTHUMG00000012526
Pharos: P26439(Tclin)
UniProt: P26439 A0A024R0F9
LinkDB
Position
1p12
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

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