KEGG   Homo sapiens (human): 51099
Entry
51099             CDS       T01001                                 
Symbol
ABHD5, CGI58, IECN2, NCIE2
Name
(RefSeq) abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
  KO
K13699  abhydrolase domain-containing protein 5 [EC:2.3.1.51]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04382  Cornified envelope formation
hsa04923  Regulation of lipolysis in adipocytes
Network
nt06545  Cornified envelope formation
  Element
N01927  Acylglucosylceramide synthesis
Disease
H00736  Dorfman-Chanarin syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04923 Regulation of lipolysis in adipocytes
    51099 (ABHD5)
  09158 Development and regeneration
   04382 Cornified envelope formation
    51099 (ABHD5)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    51099 (ABHD5)
   01004 Lipid biosynthesis proteins [BR:hsa01004]
    51099 (ABHD5)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.51  1-acylglycerol-3-phosphate O-acyltransferase
     51099 (ABHD5)
Peptidases and inhibitors [BR:hsa01002]
 Serine peptidases
  Family S33
   51099 (ABHD5)
Lipid biosynthesis proteins [BR:hsa01004]
 Phospholipid acyltransferase
  LPAAT/LPLAT
   51099 (ABHD5)
SSDB
Motif
Pfam: Abhydrolase_1 Abhydrolase_6 Hydrolase_4 Ndr PHD_ash2p_like DUF1071
Other DBs
NCBI-GeneID: 51099
NCBI-ProteinID: NP_001342115
OMIM: 604780
HGNC: 21396
Ensembl: ENSG00000011198
UniProt: Q8WTS1 A0A0S2Z5D6
LinkDB
Position
3:43690870..43734371
AA seq 349 aa
MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNG
NKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRF
DSDAEEVENQFVESIEEWRCALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWG
FPERPDLADQDRPIPVWIRALGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMF
EDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCI
DGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD
NT seq 1050 nt   +upstreamnt  +downstreamnt
atggcggcggaggaggaggaggtggactctgccgacaccggagagaggtcaggatggcta
actggttggctccccacatggtgccctacgtctatatcacaccttaaagaagctgaagag
aagatgttaaaatgtgtgccttgcacatacaaaaaagaacctgttcgtatatctaatgga
aataaaatatggacactgaagttctctcataatatttcaaataagactccacttgtcctt
ctccatggttttggaggaggtcttgggctctgggcactgaattttggagatctttgcacc
aacagacctgtctatgcttttgacctattgggttttggacgaagtagtagacccaggttt
gacagtgatgcagaagaagtggagaatcagtttgtggaatccattgaagagtggagatgt
gccctaggattggacaaaatgatcttgcttgggcacaacctaggtggattcttggctgct
gcttactcgctgaagtacccatcaagggttaatcatctcattttagtggagccttggggt
ttccctgaacgaccagaccttgctgatcaagacagaccaattccagtttggatcagagcc
ttgggagcagcattgactccctttaaccctttagctggcctaaggattgcaggacccttt
ggtttaagtctagtgcagcgtttaaggcctgatttcaaacgaaagtattcttcaatgttc
gaagacgatactgtgacagaatacatctaccactgtaatgtgcagactccaagtggtgag
acagctttcaagaatatgactattccttatggatgggcaaaaaggccaatgctccagcga
attggtaaaatgcaccctgacattccagtttcagtgatctttggcgcccgatcctgcata
gatggcaattctggcaccagcatccagtccttacgaccacattcatatgtgaagacaata
gctattcttggggcaggacattatgtatatgcagatcaaccagaagaattcaaccagaaa
gtaaaggagatctgcgacactgtggactga

KEGG   Homo sapiens (human): 285848
Entry
285848            CDS       T01001                                 
Symbol
PNPLA1, ARCI10, dJ50J22.1
Name
(RefSeq) patatin like domain 1, omega-hydroxyceramide transacylase
  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
Ensembl: ENSG00000180316
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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