| Entry |
|
| Gene name |
PNPLA6, NTE, NTEMND, SPG39, iPLA2delta, sws
|
| Definition |
patatin-like phospholipase domain containing 6 (EC:3.1.1.5)
|
| Orthology |
| lysophospholipid hydrolase [EC: 3.1.1.5] |
|
| Organism |
|
| Pathway |
| Glycerophospholipid metabolism |
|
| Disease |
| Hereditary spastic paraplegia (SPG) |
|
| Class |
Metabolism; Lipid metabolism; Glycerophospholipid metabolism [PATH: hsa00564]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
19p13.2
|
| 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 |