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

Gene name
HSD3B2, HSD3B, HSDB, SDR11E2
Definition
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (EC:1.1.1.145 5.3.3.1)
Orthology
K00070  
3beta-hydroxy-delta5-steroid dehydrogenase / steroid delta-isomerase [EC:1.1.1.145 5.3.3.1]
Organism
hsa  Homo sapiens (human)
Pathway
Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Module
Steroid hormone biosynthesis, cholesterol => prognenolone => progesterone
C19/C18-Steroid hormone biosynthesis, pregnenolone => androstenedione => estrone
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)
Class
Metabolism; Lipid metabolism; Steroid hormone biosynthesis [PATH:hsa00140]
Organismal Systems; Endocrine system; Ovarian Steroidogenesis [PATH:hsa04913]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
1p13.1
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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