Homo sapiens (human): 3284
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
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
Motif
Other DBs
NCBI-GeneID:
3284
NCBI-ProteinID:
NP_000189
OMIM:
613890
HGNC:
5218
Ensembl:
ENSG00000203859
UniProt:
P26439
LinkDB
All DBs
Position
1:119414931..119423034
Genome browser
AA seq
372 aa
AA seq
DB search
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEG
DILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVKGTQLLLEACVQASVPVFI
YTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLY
TCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALR
DPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLV
DRHKETLKSKTQ
NT seq
1119 nt
NT seq
+upstream
nt +downstream
nt
atgggctggagctgccttgtgacaggagcaggagggcttctgggtcagaggatcgtccgc
ctgttggtggaagagaaggaactgaaggagatcagggccttggacaaggccttcagacca
gaattgagagaggaattttctaagctccagaacaggaccaagctgactgtacttgaagga
gacattctggatgagccattcctgaaaagagcctgccaggacgtctcggtcgtcatccac
accgcctgtatcattgatgtctttggtgtcactcacagagagtccatcatgaatgtcaat
gtgaaaggtacccagctactgttggaggcctgtgtccaagccagtgtgccagtcttcatc
tacaccagtagcatagaggtagccgggcccaactcctacaaggaaatcatccagaacggc
cacgaagaagagcctctggaaaacacatggcccactccatacccgtacagcaaaaagctt
gctgagaaggctgtgctggcggctaatgggtggaatctaaaaaatggtgataccttgtac
acttgtgcgttaagacccacatatatctatggggaaggaggcccattcctttctgccagt
ataaatgaggccctgaacaacaatgggatcctgtcaagtgttggaaagttctctacagtc
aacccagtctatgttggcaacgtggcctgggcccacattctggccttgagggctctgcgg
gaccccaagaaggccccaagtgtccgaggtcaattctattacatctcagatgacacgcct
caccaaagctatgataaccttaattacatcctgagcaaagagtttggcctccgccttgat
tccagatggagccttcctttaaccctgatgtactggattggcttcctgctggaagtagtg
agcttcctactcagcccaatttactcctatcaaccccccttcaaccgccacacagtcaca
ttatcaaatagtgtgttcaccttctcttacaagaaggctcagcgagatctggcgtataag
ccactctacagctgggaggaagccaagcagaaaaccgtggagtgggttggttcccttgtg
gaccggcacaaggagaccctgaagtccaagactcagtga
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