KEGG   Homo sapiens (human): 285848
Entry
285848            CDS       T01001                                 
Symbol
PNPLA1, ARCI10, dJ50J22.1
Name
(RefSeq) omega-hydroxyceramide transacylase isoform 3
  KO
K16813  omega-hydroxyceramide transacylase [EC:2.3.1.296]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
Network
nt06545  Cornified envelope formation
  Element
N01927  Acylglucosylceramide synthesis
Disease
H00734  Autosomal recessive congenital ichthyosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09158 Development and regeneration
   04382 Cornified envelope formation
    285848 (PNPLA1)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.296  omega-hydroxyceramide transacylase
     285848 (PNPLA1)
SSDB
Motif
Pfam: Patatin DUF6585
Other DBs
NCBI-GeneID: 285848
NCBI-ProteinID: NP_001139189
OMIM: 612121
HGNC: 21246
UniProt: Q8N8W4 B8XXQ3
LinkDB
Position
6:36243168..36313955
AA seq 532 aa
MEEQVFKGDPDTPHSISFSGSGFLSFYQAGAVDALRDLAPRMLETAHRFAGTSAGAVIAA
LAICGIEMDEYLRVLNVGVAEVKKSFLGPLSPSCKMVQMMRQFLYRVLPEDSYKVTTGKL
HVSLTRLTDGENVVVSEFTSKEELIEALYCSCFVPVYCGLIPPTYRGVRYIDGGFTGMQP
CAFWTDAITISTFSGQQDICPRDCPAIFHDFRMFNCSFQFSLENIARMTHALFPPDLVIL
HDYYYRGYEDAVLYLRRLNAVYLNSSSKRVIFPRVEVYCQIELALGNECPERSQPSLRAR
QASLEGATQPHKEWVPKGDGRGSHGPPVSQPVQTLEFTCESPVSAPVSPLEQPPAQPLAS
STPLSLSGMPPVSFPAVHKPPSSTPGSSLPTPPPGLSPLSPQQQVQPSGSPARSLHSQAP
TSPRPSLGPSTVGAPQTLPRSSLSAFPAQPPVEELGQEQPQAVALLVSSKPKSAVPLVHV
KETVSKPYVTESPAEDSNWVNKVFKKNKQKTSGTRKGFPRHSGSKKPSSKVQ
NT seq 1599 nt   +upstreamnt  +downstreamnt
atggaagaacaggtgttcaagggggacccggacacccctcactccatctccttctcgggc
agtggattcctctccttctaccaggcgggggctgtggacgccctgcgggacctggccccc
cggatgctggaaacagcccaccgctttgcggggacatcggcaggtgctgtgatcgccgcc
ctggccatctgcgggattgaaatggatgagtatctcagagtcctcaacgtgggtgtggcc
gaggtgaagaaatccttcctggggcccttgtccccgtcctgtaagatggtgcagatgatg
aggcagtttctgtaccgggtcctgcccgaggactcctacaaggtcaccacggggaagctc
catgtgagcctcacccgcttaacggacggggagaatgtggtggtttcagagttcacgtcc
aaggaggagctcattgaggccctatactgcagctgcttcgtcccggtgtactgtggcctc
atccccccgacttaccgcggtgtgaggtacatcgatgggggcttcacgggcatgcagccc
tgtgccttctggaccgacgccatcaccatctccaccttcagtgggcagcaggacatctgt
ccccgggactgcccggccatcttccacgacttccgcatgttcaactgctccttccagttc
tccctggagaacatcgccaggatgacccacgcattgttccccccggacctggtgatcctg
cacgattactactaccgagggtacgaggatgcagttttgtacttgaggcggctgaatgct
gtttatcttaattcttcctccaagagagtgattttcccccgggtggaagtgtactgccag
atagaactcgcccttggcaatgagtgccctgaacgcagtcaaccaagccttcgagcacgg
caggccagtctggaaggagccacacaacctcacaaggagtgggttcccaaaggggatgga
aggggcagccatggtccgcctgtgtcccaacctgtgcagacacttgaattcacatgcgag
tcacctgtttcagcaccagtctctccacttgagcagccacctgcacagccactggcctct
tcaactccactttctctaagtggcatgccacctgtatcattcccagctgtgcacaagcca
cccagctccacacctggttcatcactgcccaccccaccacctggactgtcacctctgtca
cctcagcagcaggtacaaccgtctggatcaccagccagatccctacactctcaggcaccc
acttcacccaggccatccctggggccttcaactgtgggggcacctcaaacactgccccga
agttctctttcagccttccctgctcagccacctgtggaggaactaggccaagaacagccc
caagctgtagctcttcttgtctcttcaaaaccaaaaagcgccgtgcctctggttcatgtg
aaggaaaccgtcagcaagccttatgtaacggagagccctgctgaagactcaaactgggtg
aataaggtcttcaagaagaacaagcaaaagacaagtggcaccagaaaaggcttcccaaga
cattcgggatccaaaaaaccaagcagcaaagtgcagtga

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