KEGG   Homo sapiens (human): 50814Help
Entry
50814             CDS       T01001                                 

Gene name
NSDHL, H105E3, SDR31E1, XAP104
Definition
(RefSeq) NAD(P) dependent steroid dehydrogenase-like
  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, squalene 2,3-epoxide => cholesterol
Disease
H00496  Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD)
H01917  CK syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 3Beta_HSD Epimerase GDP_Man_Dehyd NAD_binding_10 RmlD_sub_bind NAD_binding_4 Polysacc_synt_2 NmrA NAD_binding_2
Motif
Other DBs
NCBI-GeneID: 50814
NCBI-ProteinID: NP_001123237
OMIM: 300275
HGNC: 13398
Ensembl: ENSG00000147383
Vega: OTTHUMG00000024185
Pharos: Q15738(Tbio)
UniProt: Q15738
Position
Xq28
AA seq 373 aa AA seqDB search
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLAR
GYAVNVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRV
NYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQE
RAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVA
YYLALLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAME
RTVQSFRHLRRVK
NT seq 1122 nt NT seq  +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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