KEGG   Homo sapiens (human): 50640
Entry
50640             CDS       T01001                                 
Symbol
PNPLA8, IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma
Name
(RefSeq) patatin like domain 8, phospholipase A2
  KO
K16815  calcium-independent phospholipase A2-gamma
Organism
hsa  Homo sapiens (human)
Disease
H02201  Mitochondrial myopathy with lactic acidosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09191 Unclassified: metabolism
   99983 Lipid metabolism
    50640 (PNPLA8)
SSDB
Motif
Pfam: Patatin SMC_ScpB
Other DBs
NCBI-GeneID: 50640
NCBI-ProteinID: NP_001242936
OMIM: 612123
HGNC: 28900
Ensembl: ENSG00000135241
UniProt: Q9NP80
Position
7:complement(108470417..108528178)
AA seq 782 aa
MSINLTVDIYIYLLSNARSVCGKQRSKQLYFLFSPKHYWRISHISLQRGFHTNIIRCKWT
KSEAHSCSKHCYSPSNHGLHIGILKLSTSAPKGLTKVNICMSRIKSTLNSVSKAVFGNQN
EMISRLAQFKPSSQILRKVSDSGWLKQKNIKQAIKSLKKYSDKSAEKSPFPEEKSHIIDK
EEDIGKRSLFHYTSSITTKFGDSFYFLSNHINSYFKRKEKMSQQKENEHFRDKSELEDKK
VEEGKLRSPDPGILAYKPGSESVHTVDKPTSPSAIPDVLQVSTKQSIANFLSRPTEGVQA
LVGGYIGGLVPKLKYDSKSQSEEQEEPAKTDQAVSKDRNAEEKKRLSLQREKIIARVSID
NRTRALVQALRRTTDPKLCITRVEELTFHLLEFPEGKGVAVKERIIPYLLRLRQIKDETL
QAAVREILALIGYVDPVKGRGIRILSIDGGGTRGVVALQTLRKLVELTQKPVHQLFDYIC
GVSTGAILAFMLGLFHMPLDECEELYRKLGSDVFSQNVIVGTVKMSWSHAFYDSQTWENI
LKDRMGSALMIETARNPTCPKVAAVSTIVNRGITPKAFVFRNYGHFPGINSHYLGGCQYK
MWQAIRASSAAPGYFAEYALGNDLHQDGGLLLNNPSALAMHECKCLWPDVPLECIVSLGT
GRYESDVRNTVTYTSLKTKLSNVINSATDTEEVHIMLDGLLPPDTYFRFNPVMCENIPLD
ESRNEKLDQLQLEGLKYIERNEQKMKKVAKILSQEKTTLQKINDWIKLKTDMYEGLPFFS
KL
NT seq 2349 nt   +upstreamnt  +downstreamnt
atgtctattaatctgactgtagatatatatatttacctccttagtaatgcaagaagtgtt
tgtgggaagcagagaagcaagcaactgtatttcttgttctcacctaagcattactggagg
ataagccacatcagtctacaaagaggttttcatacaaacataataagatgtaaatggacc
aaaagtgaagcacattcttgcagtaagcactgttactctccaagcaaccatggtttacat
attgggattttgaaacttagcacttctgctcccaagggacttacaaaagtgaacatttgt
atgtcccgtattaaaagtactttgaactctgtttcaaaggctgtttttggcaatcaaaat
gaaatgatttcacgtttagctcaatttaagccaagttcccaaattttaagaaaagtatcg
gatagtggctggttaaaacagaaaaacatcaaacaagccatcaaatctctgaaaaaatat
agtgacaaatcagcagaaaagagtccttttccagaagagaaaagtcacattatagacaaa
gaagaagatataggtaaacgcagtctttttcattacacaagttctataaccacaaaattt
ggagactcattctactttttatcaaatcatattaattcatatttcaaacgtaaggaaaaa
atgtctcaacaaaaggaaaatgaacatttccgggacaaatcagaacttgaagataaaaag
gtagaagaggggaaattaagatctccagatcctggcatcctggcttataagccaggctca
gaatctgtacatacggtggacaagcctacaagtccttctgcgatacctgatgttcttcaa
gtttcaactaaacaaagtattgctaactttctttctcgtcccacggaaggtgtacaagct
ttagtaggtggttatattggtggacttgtccccaaattaaagtatgattcaaagagtcag
tcagaagaacaggaagagcctgctaaaactgatcaggctgtcagcaaagacagaaatgca
gaggagaaaaagcgtttatctcttcagcgagaaaagattatcgcaagggtgagtattgat
aacaggacccgggcattagttcaggcattaagaagaacaactgacccaaagctctgcatt
actagggttgaagaactgacttttcatcttctagaatttcctgaaggaaaaggagtggct
gtcaaggaaagaattattccatatttattacgactgagacaaattaaggatgaaactctt
caggctgcagttagagaaattttggccctaattggctatgtggatccagtgaaagggaga
ggaatccgaattctctcaattgatggtggaggaacaaggggcgtggttgctctccagacc
ctacgaaaattagttgaacttactcagaagccagttcatcagctctttgattacatttgt
ggtgtaagcacaggtgccatattagctttcatgttggggttgtttcatatgcccttggat
gaatgtgaggaactttatcgaaaattaggatcagatgtattttcacaaaatgtcattgtt
ggaacagtaaaaatgagttggagccatgcattttatgacagtcaaacatgggaaaacatt
cttaaggataggatgggatctgcactgatgattgaaacagcaagaaaccccacatgtcct
aaggtagctgctgtaagtaccatagtaaatagagggataacacccaaagcttttgtgttc
agaaactatggtcattttcctggaatcaactctcattatttgggaggctgtcagtataaa
atgtggcaggccattagagcctcatctgctgctccaggctactttgcagaatatgcattg
ggaaatgatcttcatcaagatggaggtttgcttctgaataacccttcggcattagctatg
catgagtgtaaatgtctttggccagatgtgccgttagagtgcatagtatccctgggcact
ggacgttatgagagtgatgtgagaaacacggtaacatacacaagcttgaaaactaaactt
tctaatgttatcaacagtgctacagatacagaagaagtccatataatgcttgatggcctg
ttacctcctgacacctattttagattcaatcctgtaatgtgtgaaaacatacctctagat
gaaagtcgaaatgaaaagctggatcagctgcagttggaagggttgaaatacatagaaaga
aatgaacaaaaaatgaaaaaagttgcaaaaatattaagtcaagaaaaaacaactctgcag
aaaattaatgattggataaaattaaaaactgatatgtatgaaggacttccattcttttca
aaattgtga

  All links  
Disease (2)   
   OMIM (2)   
Gene (26)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (10)   
   OC (1)   
Protein sequence (14)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (48)   
   RefSeq(nuc) (20)   
   GenBank (14)   
   EMBL (14)   
Protein domain (2)   
   Pfam (2)   
All databases (92)   

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