Homo sapiens (human): 10908
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Entry
10908 CDS
T01001
Symbol
PNPLA6, BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
Name
(RefSeq) patatin-like phospholipase domain-containing protein 6 isoform a
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)
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SSDB
Ortholog
Paralog
GFIT
Motif
Pfam:
NTE_Ploop
cNMP_binding
Patatin
Motif
Other DBs
NCBI-GeneID:
10908
NCBI-ProteinID:
NP_001159583
OMIM:
603197
HGNC:
16268
UniProt:
Q8IY17
LinkDB
All DBs
Position
19:7534164..7561767
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AA seq
1375 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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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