KEGG   Homo sapiens (human): 3988
Entry
3988              CDS       T01001                                 

Gene name
LIPA, CESD, LAL
Definition
(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
hsa04979  Cholesterol metabolism
Disease
H00148  Lysosomal acid lipase deficiency
Drug target
Sebelipasealfa: D10377
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)
 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)
SSDB
Motif
Pfam: Abhydrolase_1 Abhydro_lipase Hydrolase_4 Abhydrolase_6 DUF900 YjbF DUF779
Other DBs
NCBI-GeneID: 3988
NCBI-ProteinID: NP_000226
OMIM: 613497
HGNC: 6617
Ensembl: ENSG00000107798
Vega: OTTHUMG00000018716
Pharos: P38571(Tchem)
UniProt: P38571
Position
10q23.31
AA seq 399 aa
MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYI
LCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNS
RGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIG
FIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFL
KWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAV
KFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQI
TNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
NT seq 1200 nt   +upstreamnt  +downstreamnt
atgaaaatgcggttcttggggttggtggtctgtttggttctctggaccctgcattctgag
gggtctggagggaaactgacagctgtggatcctgaaacaaacatgaatgtgagtgaaatt
atctcttactggggattccctagtgaggaatacctagttgagacagaagatggatatatt
ctgtgccttaaccgaattcctcatgggaggaagaaccattctgacaaaggtcccaaacca
gttgtcttcctgcaacatggcttgctggcagattctagtaactgggtcacaaaccttgcc
aacagcagcctgggcttcattcttgctgatgctggttttgacgtgtggatgggcaacagc
agaggaaatacctggtctcggaaacataagacactctcagtttctcaggatgaattctgg
gctttcagttatgatgagatggcaaaatatgacctaccagcttccattaacttcattctg
aataaaactggccaagaacaagtgtattatgtgggtcattctcaaggcaccactataggt
tttatagcattttcacagatccctgagctggctaaaaggattaaaatgttttttgccctg
ggtcctgtggcttccgtcgccttctgtactagccctatggccaaattaggacgattacca
gatcatctcattaaggacttatttggagacaaagaatttcttccccagagtgcgtttttg
aagtggctgggtacccacgtttgcactcatgtcatactgaaggagctctgtggaaatctc
tgttttcttctgtgtggatttaatgagagaaatttaaatatgtctagagtggatgtatat
acaacacattctcctgctggaacttctgtgcaaaacatgttacactggagccaggctgtt
aaattccaaaagtttcaagcctttgactggggaagcagtgccaagaattattttcattac
aaccagagttatcctcccacatacaatgtgaaggacatgcttgtgccgactgcagtctgg
agcgggggtcacgactggcttgcagatgtctacgacgtcaatatcttactgactcagatc
accaacttggtgttccatgagagcattccggaatgggagcatcttgacttcatttggggc
ctggatgccccttggaggctttataataaaattattaatctaatgaggaaatatcagtga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (3)   
   KEGG PATHWAY (3)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Drug (1)   
   KEGG DRUG (1)   
Chemical substance (4)   
   KEGG COMPOUND (4)   
Chemical reaction (2)   
   KEGG ENZYME (1)   
   KEGG REACTION (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (47)   
   RefSeq(nuc) (5)   
   GenBank (21)   
   EMBL (21)   
Protein domain (7)   
   Pfam (7)   
All databases (90)   

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