KEGG H.sapiens: 3988

Homo sapiens (human): 3988

Entry

3988 CDS H.sapiens

Gene name LIPA

Definition lipase A, lysosomal acid, cholesterol esterase (EC:3.1.1.13)

Orthology K01052 lysosomal acid lipase/cholesteryl ester hydrolase
[EC:3.1.1.13]

Pathway hsa00100 Steroid biosynthesis
hsa04142 Lysosome

Disease H00148 Wolman disease

Class Metabolism; Lipid Metabolism; Steroid biosynthesis [PATH:hsa00100]
Cellular Processes; Transport and Catabolism; Lysosome
[PATH:hsa04142]

SSDB

Motif Pfam: Abhydrolase_1 Abhydro_lipase DUF2974 DUF900
PROSITE: LIPASE_SER

Other DBs NCBI-GI: 51317399
NCBI-GeneID: 3988
OMIM: 278000
HGNC: 6617
HPRD: 02044
Ensembl: ENSG00000107798
UniProt: P38571

Position 10q23.2-q23.3

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

All links

Pathway (2)   
   KEGG PATHWAY (2)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (13)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (9)   
   UniProt (1)   
   RefSeq(pep) (2)   
   IPI (6)   
DNA sequence (12)   
   RefSeq(nuc) (2)   
   GenBank (5)   
   EMBL (5)   
Protein domain (5)   
   Pfam (4)   
   PROSITE (1)   
All databases (51)

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