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
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (9)   
   KEGG DISEASE (4)   
   OMIM (5)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (5)   
   KEGG ENZYME (1)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (31)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (33)   
   RefSeq(nuc) (5)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (99)   

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