KEGG   Homo sapiens (human): 10682Help
Entry
10682             CDS       T01001                                 

Gene name
EBP, CDPX2, CHO2, CPX, CPXD, MEND
Definition
(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, squalene 2,3-epoxide => cholesterol
Disease
H01194  X-linked chondrodysplasia punctata
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EBP
Motif
Other DBs
NCBI-GeneID: 10682
NCBI-ProteinID: NP_006570
OMIM: 300205
HGNC: 3133
Ensembl: ENSG00000147155
Vega: OTTHUMG00000034482
Pharos: Q15125(Tchem)
UniProt: Q15125 A0A024QYX0
LinkDB All DBs
Position
Xp11.23
AA seq 230 aa AA seqDB search
MTTNAGPLHPYWPQHLRLDNFVPNDRPTWHILAGLFSVTGVLVVTTWLLSGRAAVVPLGT
WRRLSLCWFAVCGFIHLVIEGWFVLYYEDLLGDQAFLSQLWKEYAKGDSRYILGDNFTVC
METITACLWGPLSLWVVIAFLRQHPLRFILQLVVSVGQIYGDVLYFLTEHRDGFQHGELG
HPLYFWFYFVFMNALWLVLPGVLVLDAVKHLTHAQSTLDAKATKAKSKKN
NT seq 693 nt NT seq  +upstreamnt  +downstreamnt
atgactaccaacgcgggccccttgcacccatactggcctcagcacctaagactggacaac
tttgtacctaatgaccgccccacctggcatatactggctggcctcttctctgtcacaggg
gtcttagtcgtgaccacatggctgttgtcaggtcgtgctgcggttgtcccattggggact
tggcggcgactgtccctgtgctggtttgcagtgtgtgggttcattcacctggtgatcgag
ggctggttcgttctctactacgaagacctgcttggagaccaagccttcttatctcaactc
tggaaagagtatgccaagggagacagccgatacatcctgggtgacaacttcacagtgtgc
atggaaaccatcacagcttgcctgtggggaccactcagcctgtgggtggtgatcgccttt
ctccgccagcatcccctccgcttcattctacagcttgtggtctctgtgggccagatctat
ggggatgtgctctacttcctgacagagcaccgcgacggattccagcacggagagctgggc
caccctctctacttctggttttactttgtcttcatgaatgccctgtggctggtgctgcct
ggagtccttgtgcttgatgctgtgaagcacctcactcatgcccagagcacgctggatgcc
aaggccacaaaagccaagagcaagaagaactga

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