KEGG   Homo sapiens (human): 10908Help
Entry
10908             CDS       T01001                                 

Gene name
PNPLA6, BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
Definition
(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 (SPG)
H01898  PNPLA6-related disorders
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Metabolism
  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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: cNMP_binding Patatin
Motif
Other DBs
NCBI-GeneID: 10908
NCBI-ProteinID: NP_001159586
OMIM: 603197
HGNC: 16268
Ensembl: ENSG00000032444
Vega: OTTHUMG00000182094
Pharos: Q8IY17(Tbio)
UniProt: Q8IY17
Position
19p13.2
AA seq 1365 aa AA seqDB search
MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAV
VVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSA
TSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYM
LKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLLELCLPGPDG
KECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEAFSAVFTKYP
ESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTRTSPVRGSKR
MVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQ
GGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATG
GCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSL
HFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISK
SDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQGDRSDCTYIV
LNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTELAKLPEGTLG
HIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPGSGLGVPPHSELTNPASNLATVAILPV
CAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAHR
IVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHRE
EGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRL
ARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSAS
RTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIEDLWLPYFNVT
TDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINNLPADIARSMG
AKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQSRLAYVSCVR
QLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTDR
RSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGP
DCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA
NT seq 4098 nt NT seq  +upstreamnt  +downstreamnt
atggggacatcgagtcacgggctggctacgaactcctcgggggcgaaggtggcggagagg
gatgggttccaggacgtcctggcgcccggggaaggctcggcgggacggatttgcggtgcg
cagccagtgccgttcgtccctcaggtgcttggcgtgatgatcggggccggagtggcggtg
gtggtcacggccgtgctcatcctcctggtggtgcggaggctgcgagtgccaaaaacccca
gccccggatggcccccggtatcggttccggaagagggacaaagtgctcttctatggccgg
aagattatgcggaaggtgtcacaatccacctcctccctcgtggatacctctgtctccgcc
acctcccggccacgcatgaggaagaaactgaagatgctcaacattgccaagaagatcctg
cgcatccagaaagagacgcccacgctgcagcggaaggagcccccgcccgcagtgctagaa
gctgacctgaccgagggcgacctggctaactcccatctgccctctgaagtgctttatatg
ctcaagaacgtccgggtgctgggccacttcgagaagccactcttcctggagctctgccgc
cacatggtcttccagcggctgggccagggtgactacgtcttccggccgggccagccagat
gccagcatctacgtggtgcaggacgggctgctggagctctgtctgccagggcctgacggg
aaggagtgtgtggtgaaggaagtggttcctggggacagcgtcaacagccttctcagcatc
ctggatgtcatcaccggtcaccagcatccccagcggaccgtgtctgcccgggcggcccgg
gactccacggtgctgcgcctgccggtggaagcattctccgcggtcttcaccaagtacccg
gagagcttggtgcgggtcgtgcagatcatcatggtgcggctgcagcgagtcaccttcctg
gcactgcacaactacctgggtctgaccaatgagctcttcagccacgagatccagcccctg
cgtctgttccccagccccggcctcccaactcgcaccagccctgtgcggggctccaagaga
atggtcagcacctcagctacagacgagcccagggagaccccagggcggccacccgatccc
accggggccccgctgcctggacctacaggggaccctgtgaagcccacatccctggaaacc
ccctcggcccctctgctgagccgctgcgtctccatgccaggggacatctcaggcttgcag
ggtggcccccgctccgacttcgacatggcctatgagcgtggccggatctccgtgtccctg
caggaagaggcctccggggggtccctggcagcccccgctcggacccccactcaggagcct
cgtgagcagccggcaggcgcctgtgaatacagctactgtgaggatgagtcggccactggt
ggctgccctttcgggccctaccagggccgccagaccagcagcatcttcgaggcagcaaag
caggagctggccaagctgatgcggattgaggacccctccctcctgaacagcagagtcttg
ctgcaccacgccaaagctggcaccatcattgcccgccagggagaccaggacgtgagcctg
cacttcgtgctctggggctgcctgcacgtgtaccagcgcatgatcgacaaggcggaggac
gtgtgcctgttcgtagcgcagcccggggaactggtggggcagctggcggtgctcactggc
gaacctctcatcttcacactgcgagcccaacgcgactgcaccttcctgcggatctccaag
tccgacttctatgagatcatgcgcgcacagcccagtgtggtgctgagtgcggcgcacacg
gtggcagccaggatgtcgcccttcgtgcgccagatggacttcgccatcgactggactgca
gtggaggcgggacgcgcgctgtacaggcagggcgaccgctccgactgcacttacatcgtg
ctcaatgggcggctgcgtagcgtgatccagcgaggcagtggcaagaaggagctggtgggc
gagtacggccgcggcgacctcatcggcgtggtggaggcactgacccggcagccgcgagcc
acgacggtgcacgcggtgcgcgacacggagctggccaagcttcccgagggcaccttgggt
cacatcaaacgccggtacccgcaggtcgtgacccgccttatccacctactgagccagaaa
attctagggaatttgcagcagctgcaaggacccttcccaggctctgggttgggtgtgccc
ccacactcggaactcaccaacccagccagcaacctggcaactgtggcaatcctgcctgtg
tgtgctgaggtccccatggtggccttcacgctggagctgcagcacgccctgcaggccatc
ggtccgacgctactccttaacagtgacatcatccgggcacgcctgggggcctccgcactg
gatagcatccaagagttccggctgtcagggtggctggcccagcaggaggatgcacaccgt
atcgtactctaccagacggacgcctcgctgacgccctggaccgtgcgctgcctgcgacag
gccgactgcatcctcattgtgggcctgggggaccaggagcctaccctcggccagctggag
cagatgctggagaacacggctgtgcgcgcccttaagcagctagtcctgctccaccgagag
gagggcgcgggccccacgcgcaccgtggagtggctaaatatgcgcagctggtgctcgggg
cacctgcacctgcgctgtccgcgccgcctcttttcgcgccgcagccctgccaagctgcat
gagctctacgagaaggttttctccaggcgcgcggaccggcacagcgacttctcccgcttg
gcgagggtgctcacggggaacaccattgcccttgtgctaggcgggggcggggccaggggc
tgctcgcacatcggagtactaaaggcattagaggaggcgggggtccccgtggacctggtg
ggcggcacgtccattggctctttcatcggagcgttgtacgcggaggagcgcagcgccagc
cgcacgaagcagcgggcccgggagtgggccaagagcatgacttcggtgctggaacctgtg
ttggacctcacgtacccagtcacctccatgttcactgggtctgcctttaaccgcagcatc
catcgggtcttccaggataagcagattgaggacctgtggctgccttacttcaacgtgacc
acagatatcaccgcctcagccatgcgagtccacaaagatggctccctgtggcggtacgtg
cgcgccagcatgacgctgtcgggctacctgcccccgctgtgcgaccccaaggacgggcac
ctactcatggatggcggctacatcaacaatctgccagcggacatcgcccgcagcatgggt
gccaaaacggtcatcgccattgacgtggggagccaggatgagacggacctcagcacctac
ggggacagcctgtccggctggtggctgctgtggaagcggctgaatccctgggctgacaag
gtaaaggttccagacatggctgaaatccagtcccgcctggcctacgtgtcctgtgtgcgg
cagctagaggttgtcaagtccagctcctactgcgagtacctgcgcccgcccatcgactgc
ttcaagaccatggactttgggaagttcgaccagatctatgatgtgggctaccagtacggg
aaggcggtgtttggaggctggagccgtggcaacgtcattgagaaaatgctcacagaccgg
cggtctacagaccttaatgagagccgccgtgcagacgtgcttgccttcccaagctctggc
ttcactgacttggcagagattgtgtcccggattgagccccccacgagctatgtctctgat
ggctgtgctgacggagaggagtcagattgtctgacagagtatgaggaggacgccggaccc
gactgctcgagggatgaaggggggtcccccgagggcgcaagccccagcactgcctccgag
atggaggaggagaagtcgattctccggcaacgacgctgtctgccccaggagccgcccggc
tcagccacagatgcctga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (2)   
   OMIM (5)   
Chemical substance (8)   
   KEGG COMPOUND (8)   
Chemical reaction (5)   
   KEGG ENZYME (1)   
   KEGG REACTION (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
   PHAROS (1)   
   VEGA (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 (100)   

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