KEGG   Homo sapiens (human): 10682
Entry
10682             CDS       T01001                                 
Symbol
EBP, CDPX2, CHO2, CPX, CPXD, MEND
Name
(RefSeq) EBP cholestenol delta-isomerase
  KO
K01824  cholestenol Delta-isomerase [EC:5.3.3.5]
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
H01194  X-linked chondrodysplasia punctata
H02248  MEND syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    10682 (EBP)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.3  Intramolecular oxidoreductases
   5.3.3  Transposing C=C bonds
    5.3.3.5  cholestenol Delta-isomerase
     10682 (EBP)
SSDB
Motif
Pfam: EBP
Other DBs
NCBI-GeneID: 10682
NCBI-ProteinID: NP_006570
OMIM: 300205
HGNC: 3133
Ensembl: ENSG00000147155
UniProt: Q15125 A0A024QYX0
Structure
LinkDB
Position
X:48521808..48528716
AA seq 230 aa
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
NT seq 693 nt   +upstreamnt  +downstreamnt
atgactaccaacgcgggccccttgcacccatactggcctcagcacctaagactggacaac
tttgtacctaatgaccgccccacctggcatatactggctggcctcttctctgtcacaggg
gtcttagtcgtgaccacatggctgttgtcaggtcgtgctgcggttgtcccattggggact
tggcggcgactgtccctgtgctggtttgcagtgtgtgggttcattcacctggtgatcgag
ggctggttcgttctctactacgaagacctgcttggagaccaagccttcttatctcaactc
tggaaagagtatgccaagggagacagccgatacatcctgggtgacaacttcacagtgtgc
atggaaaccatcacagcttgcctgtggggaccactcagcctgtgggtggtgatcgccttt
ctccgccagcatcccctccgcttcattctacagcttgtggtctctgtgggccagatctat
ggggatgtgctctacttcctgacagagcaccgcgacggattccagcacggagagctgggc
caccctctctacttctggttttactttgtcttcatgaatgccctgtggctggtgctgcct
ggagtccttgtgcttgatgctgtgaagcacctcactcatgcccagagcacgctggatgcc
aaggccacaaaagccaagagcaagaagaactga

DBGET integrated database retrieval system