KEGG   Homo sapiens (human): 4047
Entry
4047              CDS       T01001                                 

Gene name
LSS, APMR4, CTRCT44, HYPT14, OSC
Definition
(RefSeq) lanosterol synthase
  KO
K01852  lanosterol synthase [EC:5.4.99.7]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00100  Steroid biosynthesis
hsa01100  Metabolic pathways
Module
hsa_M00101  Cholesterol biosynthesis, squalene 2,3-epoxide => cholesterol
Disease
H01202  Cataract
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00100 Steroid biosynthesis
    4047 (LSS)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.99  Transferring other groups
    5.4.99.7  lanosterol synthase
     4047 (LSS)
SSDB
Motif
Pfam: SQHop_cyclase_C SQHop_cyclase_N Prenyltrans
Other DBs
NCBI-GeneID: 4047
NCBI-ProteinID: NP_001001438
OMIM: 600909
HGNC: 6708
Ensembl: ENSG00000160285
Vega: OTTHUMG00000090633
Pharos: P48449(Tchem)
UniProt: P48449 B2R694
Structure
PDB: 
1W6K 1W6J

Position
21q22.3
AA seq 732 aa
MTEGTCLRRRGGPYKTEPATDLGRWRLNCERGRQTWTYLQDERAGREQTGLEAYALGLDT
KNYFKDLPKAHTAFEGALNGMTFYVGLQAEDGHWTGDYGGPLFLLPGLLITCHVARIPLP
AGYREEIVRYLRSVQLPDGGWGLHIEDKSTVFGTALNYVSLRILGVGPDDPDLVRARNIL
HKKGGAVAIPSWGKFWLAVLNVYSWEGLNTLFPEMWLFPDWAPAHPSTLWCHCRQVYLPM
SYCYAVRLSAAEDPLVQSLRQELYVEDFASIDWLAQRNNVAPDELYTPHSWLLRVVYALL
NLYEHHHSAHLRQRAVQKLYEHIVADDRFTKSISIGPISKTINMLVRWYVDGPASTAFQE
HVSRIPDYLWMGLDGMKMQGTNGSQIWDTAFAIQALLEAGGHHRPEFSSCLQKAHEFLRL
SQVPDNPPDYQKYYRQMRKGGFSFSTLDCGWIVSDCTAEALKAVLLLQEKCPHVTEHIPR
ERLCDAVAVLLNMRNPDGGFATYETKRGGHLLELLNPSEVFGDIMIDYTYVECTSAVMQA
LKYFHKRFPEHRAAEIRETLTQGLEFCRRQQRADGSWEGSWGVCFTYGTWFGLEAFACMG
QTYRDGTACAEVSRACDFLLSRQMADGGWGEDFESCEERRYLQSAQSQIHNTCWAMMGLM
AVRHPDIEAQERGVRCLLEKQLPNGDWPQENIAGVFNKSCAISYTSYRNIFPIWALGRFS
QLYPERALAGHP
NT seq 2199 nt   +upstreamnt  +downstreamnt
atgacggagggcacgtgtctgcggcgccgagggggcccctacaagaccgagcccgccacc
gacctcggccgctggcgactcaactgcgagaggggccggcagacgtggacctacctgcag
gacgagcgcgccggccgcgagcagaccggcctggaagcctacgccctggggctggacacc
aagaattactttaaggacttgcccaaagcccacaccgcctttgagggggctctgaacggg
atgacattttacgtggggctgcaggctgaggatgggcactggacgggtgattatggtggc
ccacttttcctcctgccaggcctcctgatcacttgccacgtggcacgcatccctctgcca
gccggatacagagaagagattgtgcggtacctgcggtcagtgcagctccctgacggtggc
tggggcctgcacattgaggataagtccaccgtgtttgggactgcgctcaactatgtgtct
ctcagaattctgggtgttgggcctgacgatcctgacctggtacgagcccggaacattctt
cacaagaaaggtggtgctgtggccatcccctcctgggggaagttctggctggctgtcctg
aatgtttacagctgggaaggcctcaataccctgttcccagagatgtggctgtttcctgac
tgggcaccggcacacccctccacactctggtgccactgccggcaggtgtacctgcccatg
agctactgctacgccgttcggctgagtgccgcggaagacccgctggtccagagcctccgc
caggagctctatgtggaggacttcgccagcattgactggctggcgcagaggaacaacgtg
gcccccgacgagctgtacacgccgcacagctggctgctccgcgtggtatatgcgctcctc
aacctgtatgagcaccaccacagtgcccacctgcggcagcgggccgtgcagaagctgtat
gaacacattgtggccgacgaccgattcaccaagagcatcagcatcggcccgatctcgaaa
accatcaacatgcttgtgcgctggtatgtggacgggcccgcctccactgccttccaggag
catgtctccagaatcccggactatctctggatgggccttgacggcatgaaaatgcagggc
accaacggctcacagatctgggacaccgcattcgccatccaggctctgcttgaggcgggc
gggcaccacaggcccgagttttcgtcctgcctgcagaaggctcatgagttcctgaggctc
tcacaggtcccagataaccctcccgactaccagaagtactaccgccagatgcgcaagggt
ggcttctccttcagtacgctggactgcggctggatcgtttctgactgcacggctgaggcc
ttgaaggctgtgctgctcctgcaggagaagtgtccccatgtcaccgagcacatccccaga
gaacggctctgcgatgctgtggctgtgctgctgaacatgagaaatccagatggagggttc
gccacctatgagaccaagcgtggggggcacttgctggagctgctgaacccctcggaggtc
ttcggggacatcatgattgactacacctatgtggagtgcacctcagccgtgatgcaggcg
cttaagtatttccacaagcgtttcccggagcacagggcagcggagatccgggagaccctc
acgcagggcttagagttctgtcggcggcagcagagggccgatggctcctgggaaggctcc
tggggagtttgcttcacctacggcacctggtttggcctggaggccttcgcctgtatgggg
cagacctaccgagatgggactgcctgtgcagaggtctcccgggcctgtgacttcctgctg
tcccggcagatggcagacggaggctggggggaggactttgagtcctgcgaggagcggcgt
tatttgcagagtgcccagtcccagatccataacacatgctgggccatgatggggctgatg
gccgttcggcatcctgacatcgaggcccaggagagaggagtccggtgtctacttgagaaa
cagctccccaatggcgactggccgcaggaaaacattgctggggtcttcaacaagtcctgt
gccatctcctacacgagctacaggaacatcttccccatctgggccctcggccgcttctcc
cagctgtaccctgagagagcccttgctggccacccctga

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