KEGG   Homo sapiens (human): 50814
Entry
50814             CDS       T01001                                 
Symbol
NSDHL, H105E3, SDR31E1, XAP104
Name
(RefSeq) NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
  KO
K07748  sterol-4alpha-carboxylate 3-dehydrogenase (decarboxylating) [EC:1.1.1.170]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00101  Cholesterol biosynthesis, FPP => cholesterol
Network
nt06034  Cholesterol biosynthesis
  Element
N01624  Cholesterol biosynthesis
Disease
H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
H01917  CK syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    50814 (NSDHL)
Enzymes [BR:hsa01000]
 1. Oxidoreductases
  1.1  Acting on the CH-OH group of donors
   1.1.1  With NAD+ or NADP+ as acceptor
    1.1.1.170  3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)
     50814 (NSDHL)
SSDB
Motif
Pfam: 3Beta_HSD Epimerase GDP_Man_Dehyd NAD_binding_10 RmlD_sub_bind NAD_binding_4 Polysacc_synt_2 NmrA NAD_binding_2 3HCDH_N
Other DBs
NCBI-GeneID: 50814
NCBI-ProteinID: NP_001123237
OMIM: 300275
HGNC: 13398
Ensembl: ENSG00000147383
UniProt: Q15738 A0A384NPZ7
Structure
LinkDB
Position
X:152831063..152869729
AA seq 373 aa
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK
NT seq 1122 nt   +upstreamnt  +downstreamnt
atggaaccagcagttagcgagccaatgagagaccaagtcgcacggactcatttgacagag
gacactcccaaagtgaatgctgacatagaaaaggttaaccagaatcaggccaagagatgc
acagtgatcggtggctctggattcctggggcagcacatggtggagcagttgctggcaaga
ggatatgctgtcaatgtatttgatatccagcaagggtttgataatccccaggtgcggttc
tttctgggtgacctctgcagccgacaggatctgtacccagctctgaaaggtgtaaacaca
gttttccactgtgcgtcacccccaccatccagtaacaacaaggagctcttttatagagtg
aattacattggcaccaagaatgtcattgaaacttgcaaagaggctggggttcagaaactc
attttaaccagcagtgccagtgtcatctttgagggcgtcgatatcaagaatggaactgaa
gaccttccctatgccatgaaacccattgactactacacagagactaagatcttacaggag
agggcagttctgggcgccaacgatcctgagaagaatttcttaaccacagccatccgccct
catggcattttcggcccaagggacccgcagttggtacccatcctcatcgaggcagccagg
aacggcaagatgaagttcgtgattggaaatgggaagaacttggtggacttcacctttgtg
gagaacgtggtccatggacacatcctggcggcagagcagctctcccgagactcgacactg
ggtgggaaggcatttcacatcaccaatgatgagcccatccctttctggacattcctgtct
cgcatcctgacaggcctcaattatgaggcccccaagtaccacatcccctactgggtggcc
tactacctggccctcctgctatccctgctggtgatggtgatcagtcctgtcatccagctg
cagcccaccttcacacccatgcgggtcgcactggctggcacattccactactacagctgc
gagagagccaaaaaggccatgggctaccagccactagtgaccatggatgatgctatggag
aggaccgtgcagagctttcgccacctgcggagggtcaagtga

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