Homo sapiens (human): 3988
Help
Entry
3988 CDS
T01001
Symbol
LIPA, CESD, LAL
Name
(RefSeq) lipase A, lysosomal acid type
KO
K01052
lysosomal acid lipase/cholesteryl ester hydrolase [EC:
3.1.1.13
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00100
Steroid biosynthesis
hsa04142
Lysosome
hsa04148
Efferocytosis
hsa04979
Cholesterol metabolism
Network
nt06535
Efferocytosis
Element
N01780
Hydrolyzing AC-derived cholesterol esters in the lysosome
Disease
H00148
Lysosomal acid lipase deficiency
Drug target
Sebelipase alfa:
D10377
<JP/US>
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09103 Lipid metabolism
00100 Steroid biosynthesis
3988 (LIPA)
09140 Cellular Processes
09141 Transport and catabolism
04142 Lysosome
3988 (LIPA)
04148 Efferocytosis
3988 (LIPA)
09150 Organismal Systems
09154 Digestive system
04979 Cholesterol metabolism
3988 (LIPA)
Enzymes [BR:
hsa01000
]
3. Hydrolases
3.1 Acting on ester bonds
3.1.1 Carboxylic-ester hydrolases
3.1.1.13 sterol esterase
3988 (LIPA)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Abhydrolase_1
Abhydro_lipase
Hydrolase_4
Motif
Other DBs
NCBI-GeneID:
3988
NCBI-ProteinID:
NP_000226
OMIM:
613497
HGNC:
6617
Ensembl:
ENSG00000107798
UniProt:
P38571
Structure
PDB
LinkDB
All DBs
Position
10:complement(89213572..89251775)
Genome browser
AA seq
399 aa
AA seq
DB search
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYI
LCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNS
RGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIG
FIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFL
KWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQI
TNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
NT seq
1200 nt
NT seq
+upstream
nt +downstream
nt
atgaaaatgcggttcttggggttggtggtctgtttggttctctggaccctgcattctgag
gggtctggagggaaactgacagctgtggatcctgaaacaaacatgaatgtgagtgaaatt
atctcttactggggattccctagtgaggaatacctagttgagacagaagatggatatatt
ctgtgccttaaccgaattcctcatgggaggaagaaccattctgacaaaggtcccaaacca
gttgtcttcctgcaacatggcttgctggcagattctagtaactgggtcacaaaccttgcc
aacagcagcctgggcttcattcttgctgatgctggttttgacgtgtggatgggcaacagc
agaggaaatacctggtctcggaaacataagacactctcagtttctcaggatgaattctgg
gctttcagttatgatgagatggcaaaatatgacctaccagcttccattaacttcattctg
aataaaactggccaagaacaagtgtattatgtgggtcattctcaaggcaccactataggt
tttatagcattttcacagatccctgagctggctaaaaggattaaaatgttttttgccctg
ggtcctgtggcttccgtcgccttctgtactagccctatggccaaattaggacgattacca
gatcatctcattaaggacttatttggagacaaagaatttcttccccagagtgcgtttttg
aagtggctgggtacccacgtttgcactcatgtcatactgaaggagctctgtggaaatctc
tgttttcttctgtgtggatttaatgagagaaatttaaatatgtctagagtggatgtatat
acaacacattctcctgctggaacttctgtgcaaaacatgttacactggagccaggctgtt
aaattccaaaagtttcaagcctttgactggggaagcagtgccaagaattattttcattac
aaccagagttatcctcccacatacaatgtgaaggacatgcttgtgccgactgcagtctgg
agcgggggtcacgactggcttgcagatgtctacgacgtcaatatcttactgactcagatc
accaacttggtgttccatgagagcattccggaatgggagcatcttgacttcatttggggc
ctggatgccccttggaggctttataataaaattattaatctaatgaggaaatatcagtga
DBGET
integrated database retrieval system