KEGG   Homo sapiens (human): 3283
Entry
3283              CDS       T01001                                 
Symbol
HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
Name
(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 => 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
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 Sacchrp_dh_NADP Ilm1
Other DBs
NCBI-GeneID: 3283
NCBI-ProteinID: NP_000853
OMIM: 109715
HGNC: 5217
Ensembl: ENSG00000203857
UniProt: P14060
Position
1:119507203..119515058
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (10)   
   KEGG PATHWAY (6)   
   KEGG MODULE (4)   
Network (4)   
   KEGG NETWORK (4)   
Disease (1)   
   OMIM (1)   
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 (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
Protein domain (13)   
   Pfam (13)   
All databases (97)   

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