Homo sapiens (human): 50640
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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)
BRITE hierarchy
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
Patatin
SMC_ScpB
Motif
Other DBs
NCBI-GeneID:
50640
NCBI-ProteinID:
NP_001242936
OMIM:
612123
HGNC:
28900
Ensembl:
ENSG00000135241
UniProt:
Q9NP80
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Position
7:complement(108470417..108528178)
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AA seq
782 aa
AA seq
DB search
MSINLTVDIYIYLLSNARSVCGKQRSKQLYFLFSPKHYWRISHISLQRGFHTNIIRCKWT
KSEAHSCSKHCYSPSNHGLHIGILKLSTSAPKGLTKVNICMSRIKSTLNSVSKAVFGNQN
EMISRLAQFKPSSQILRKVSDSGWLKQKNIKQAIKSLKKYSDKSAEKSPFPEEKSHIIDK
EEDIGKRSLFHYTSSITTKFGDSFYFLSNHINSYFKRKEKMSQQKENEHFRDKSELEDKK
VEEGKLRSPDPGILAYKPGSESVHTVDKPTSPSAIPDVLQVSTKQSIANFLSRPTEGVQA
LVGGYIGGLVPKLKYDSKSQSEEQEEPAKTDQAVSKDRNAEEKKRLSLQREKIIARVSID
NRTRALVQALRRTTDPKLCITRVEELTFHLLEFPEGKGVAVKERIIPYLLRLRQIKDETL
QAAVREILALIGYVDPVKGRGIRILSIDGGGTRGVVALQTLRKLVELTQKPVHQLFDYIC
GVSTGAILAFMLGLFHMPLDECEELYRKLGSDVFSQNVIVGTVKMSWSHAFYDSQTWENI
LKDRMGSALMIETARNPTCPKVAAVSTIVNRGITPKAFVFRNYGHFPGINSHYLGGCQYK
MWQAIRASSAAPGYFAEYALGNDLHQDGGLLLNNPSALAMHECKCLWPDVPLECIVSLGT
GRYESDVRNTVTYTSLKTKLSNVINSATDTEEVHIMLDGLLPPDTYFRFNPVMCENIPLD
ESRNEKLDQLQLEGLKYIERNEQKMKKVAKILSQEKTTLQKINDWIKLKTDMYEGLPFFS
KL
NT seq
2349 nt
NT seq
+upstream
nt +downstream
nt
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
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