KEGG   Homo sapiens (human): 10908
Entry
10908             CDS       T01001                                 
Symbol
PNPLA6, BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
Name
(RefSeq) patatin like phospholipase domain containing 6
  KO
K14676  lysophospholipid hydrolase [EC:3.1.1.5]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00564  Glycerophospholipid metabolism
Disease
H00266  Hereditary spastic paraplegia
H01898  PNPLA6-related disorders
H02137  Laurence-Moon syndrome
H02140  Boucher-Neuhauser syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09103 Lipid metabolism
   00564 Glycerophospholipid metabolism
    10908 (PNPLA6)
Enzymes [BR:hsa01000]
 3. Hydrolases
  3.1  Acting on ester bonds
   3.1.1  Carboxylic-ester hydrolases
    3.1.1.5  lysophospholipase
     10908 (PNPLA6)
SSDB
Motif
Pfam: cNMP_binding Patatin
Other DBs
NCBI-GeneID: 10908
NCBI-ProteinID: NP_001159583
OMIM: 603197
HGNC: 16268
Ensembl: ENSG00000032444
Pharos: Q8IY17(Tbio)
UniProt: Q8IY17
Position
19:7534164..7561767
AA seq 1375 aa
MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLG
VMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTS
SLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANS
HLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLL
ELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEA
FSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTR
TSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVS
MPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYS
YCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIA
RQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQR
DCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQG
DRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTEL
AKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPAS
NLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSG
WLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRA
LKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRR
ADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIG
ALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIE
DLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINN
LPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQ
SRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRG
NVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDC
LTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
NT seq 4128 nt   +upstreamnt  +downstreamnt
atggaggctccgctgcaaactggaatgatggggacatcgagtcacgggctggctacgaac
tcctcgggggcgaaggtggcggagagggatgggttccaggacgtcctggcgcccggggaa
ggctcggcgggacggatttgcggtgcgcagccagtgccgttcgtccctcaggtgcttggc
gtgatgatcggggccggagtggcggtggtggtcacggccgtgctcatcctcctggtggtg
cggaggctgcgagtgccaaaaaccccagccccggatggcccccggtatcggttccggaag
agggacaaagtgctcttctatggccggaagattatgcggaaggtgtcacaatccacctcc
tccctcgtggatacctctgtctccgccacctcccggccacgcatgaggaagaaactgaag
atgctcaacattgccaagaagatcctgcgcatccagaaagagacgcccacgctgcagcgg
aaggagcccccgcccgcagtgctagaagctgacctgaccgagggcgacctggctaactcc
catctgccctctgaagtgctttatatgctcaagaacgtccgggtgctgggccacttcgag
aagccactcttcctggagctctgccgccacatggtcttccagcggctgggccagggtgac
tacgtcttccggccgggccagccagatgccagcatctacgtggtgcaggacgggctgctg
gagctctgtctgccagggcctgacgggaaggagtgtgtggtgaaggaagtggttcctggg
gacagcgtcaacagccttctcagcatcctggatgtcatcaccggtcaccagcatccccag
cggaccgtgtctgcccgggcggcccgggactccacggtgctgcgcctgccggtggaagca
ttctccgcggtcttcaccaagtacccggagagcttggtgcgggtcgtgcagatcatcatg
gtgcggctgcagcgagtcaccttcctggcactgcacaactacctgggtctgaccaatgag
ctcttcagccacgagatccagcccctgcgtctgttccccagccccggcctcccaactcgc
accagccctgtgcggggctccaagagaatggtcagcacctcagctacagacgagcccagg
gagaccccagggcggccacccgatcccaccggggccccgctgcctggacctacaggggac
cctgtgaagcccacatccctggaaaccccctcggcccctctgctgagccgctgcgtctcc
atgccaggggacatctcaggcttgcagggtggcccccgctccgacttcgacatggcctat
gagcgtggccggatctccgtgtccctgcaggaagaggcctccggggggtccctggcagcc
cccgctcggacccccactcaggagcctcgtgagcagccggcaggcgcctgtgaatacagc
tactgtgaggatgagtcggccactggtggctgccctttcgggccctaccagggccgccag
accagcagcatcttcgaggcagcaaagcaggagctggccaagctgatgcggattgaggac
ccctccctcctgaacagcagagtcttgctgcaccacgccaaagctggcaccatcattgcc
cgccagggagaccaggacgtgagcctgcacttcgtgctctggggctgcctgcacgtgtac
cagcgcatgatcgacaaggcggaggacgtgtgcctgttcgtagcgcagcccggggaactg
gtggggcagctggcggtgctcactggcgaacctctcatcttcacactgcgagcccaacgc
gactgcaccttcctgcggatctccaagtccgacttctatgagatcatgcgcgcacagccc
agtgtggtgctgagtgcggcgcacacggtggcagccaggatgtcgcccttcgtgcgccag
atggacttcgccatcgactggactgcagtggaggcgggacgcgcgctgtacaggcagggc
gaccgctccgactgcacttacatcgtgctcaatgggcggctgcgtagcgtgatccagcga
ggcagtggcaagaaggagctggtgggcgagtacggccgcggcgacctcatcggcgtggtg
gaggcactgacccggcagccgcgagccacgacggtgcacgcggtgcgcgacacggagctg
gccaagcttcccgagggcaccttgggtcacatcaaacgccggtacccgcaggtcgtgacc
cgccttatccacctactgagccagaaaattctagggaatttgcagcagctgcaaggaccc
ttcccagcaggctctgggttgggtgtgcccccacactcggaactcaccaacccagccagc
aacctggcaactgtggcaatcctgcctgtgtgtgctgaggtccccatggtggccttcacg
ctggagctgcagcacgccctgcaggccatcggtccgacgctactccttaacagtgacatc
atccgggcacgcctgggggcctccgcactggatagcatccaagagttccggctgtcaggg
tggctggcccagcaggaggatgcacaccgtatcgtactctaccagacggacgcctcgctg
acgccctggaccgtgcgctgcctgcgacaggccgactgcatcctcattgtgggcctgggg
gaccaggagcctaccctcggccagctggagcagatgctggagaacacggctgtgcgcgcc
cttaagcagctagtcctgctccaccgagaggagggcgcgggccccacgcgcaccgtggag
tggctaaatatgcgcagctggtgctcggggcacctgcacctgcgctgtccgcgccgcctc
ttttcgcgccgcagccctgccaagctgcatgagctctacgagaaggttttctccaggcgc
gcggaccggcacagcgacttctcccgcttggcgagggtgctcacggggaacaccattgcc
cttgtgctaggcgggggcggggccaggggctgctcgcacatcggagtactaaaggcatta
gaggaggcgggggtccccgtggacctggtgggcggcacgtccattggctctttcatcgga
gcgttgtacgcggaggagcgcagcgccagccgcacgaagcagcgggcccgggagtgggcc
aagagcatgacttcggtgctggaacctgtgttggacctcacgtacccagtcacctccatg
ttcactgggtctgcctttaaccgcagcatccatcgggtcttccaggataagcagattgag
gacctgtggctgccttacttcaacgtgaccacagatatcaccgcctcagccatgcgagtc
cacaaagatggctccctgtggcggtacgtgcgcgccagcatgacgctgtcgggctacctg
cccccgctgtgcgaccccaaggacgggcacctactcatggatggcggctacatcaacaat
ctgccagcggacatcgcccgcagcatgggtgccaaaacggtcatcgccattgacgtgggg
agccaggatgagacggacctcagcacctacggggacagcctgtccggctggtggctgctg
tggaagcggctgaatccctgggctgacaaggtaaaggttccagacatggctgaaatccag
tcccgcctggcctacgtgtcctgtgtgcggcagctagaggttgtcaagtccagctcctac
tgcgagtacctgcgcccgcccatcgactgcttcaagaccatggactttgggaagttcgac
cagatctatgatgtgggctaccagtacgggaaggcggtgtttggaggctggagccgtggc
aacgtcattgagaaaatgctcacagaccggcggtctacagaccttaatgagagccgccgt
gcagacgtgcttgccttcccaagctctggcttcactgacttggcagagattgtgtcccgg
attgagccccccacgagctatgtctctgatggctgtgctgacggagaggagtcagattgt
ctgacagagtatgaggaggacgccggacccgactgctcgagggatgaaggggggtccccc
gagggcgcaagccccagcactgcctccgagatggaggaggagaagtcgattctccggcaa
cgacgctgtctgccccaggagccgcccggctcagccacagatgcctga

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