Details for: LIPA

Gene ID: 3988

Symbol: LIPA

Ensembl ID: ENSG00000107798

Description: lipase A, lysosomal acid type

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 2.96
    Marker Score: 2962
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.5
    Marker Score: 5985
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.29
    Marker Score: 1340
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 2.16
    Marker Score: 55224
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.12
    Marker Score: 2562
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 2.1
    Marker Score: 2397
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.84
    Marker Score: 1015
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.77
    Marker Score: 67291
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.75
    Marker Score: 107648
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.74
    Marker Score: 546
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 1.72
    Marker Score: 704
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 1.72
    Marker Score: 3137
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.72
    Marker Score: 502
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.71
    Marker Score: 17615
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.66
    Marker Score: 4730
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.63
    Marker Score: 6631
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.63
    Marker Score: 3828
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.6
    Marker Score: 9724
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.56
    Marker Score: 23389
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.55
    Marker Score: 499
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.54
    Marker Score: 11789
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.53
    Marker Score: 13177
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.51
    Marker Score: 2949
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.51
    Marker Score: 5851
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.49
    Marker Score: 6445
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.49
    Marker Score: 14191
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166571
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.39
    Marker Score: 2152
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.38
    Marker Score: 1856
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.31
    Marker Score: 1202
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.31
    Marker Score: 2193
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.27
    Marker Score: 71203
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.27
    Marker Score: 741
  • Cell Name: non-classical monocyte (CL0000875)
    Fold Change: 1.26
    Marker Score: 3051
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 1.24
    Marker Score: 517
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.24
    Marker Score: 14409.5
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.24
    Marker Score: 391
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.23
    Marker Score: 1490
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.23
    Marker Score: 19173
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.21
    Marker Score: 1142
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.21
    Marker Score: 3126
  • Cell Name: macrophage (CL0000235)
    Fold Change: 1.18
    Marker Score: 1313
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.17
    Marker Score: 2342
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.17
    Marker Score: 43039
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 1.16
    Marker Score: 1248
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.14
    Marker Score: 361
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.12
    Marker Score: 1724
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.12
    Marker Score: 37698
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.08
    Marker Score: 650
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.06
    Marker Score: 445
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.06
    Marker Score: 4424
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 1.05
    Marker Score: 942
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 1.05
    Marker Score: 1066
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.04
    Marker Score: 2786
  • Cell Name: vein endothelial cell (CL0002543)
    Fold Change: 1.04
    Marker Score: 937
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251614
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 1.03
    Marker Score: 372
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.03
    Marker Score: 4275
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.03
    Marker Score: 9677
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 1.01
    Marker Score: 1704
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: 1
    Marker Score: 242
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71637
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47862
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.99
    Marker Score: 5949
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30382
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.97
    Marker Score: 252
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.97
    Marker Score: 700
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 0.97
    Marker Score: 1398
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.97
    Marker Score: 19209
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.96
    Marker Score: 1053
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.95
    Marker Score: 400
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.95
    Marker Score: 1095
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2395
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.94
    Marker Score: 465
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.93
    Marker Score: 6954
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 481
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.93
    Marker Score: 5000
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.93
    Marker Score: 379
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 438
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.93
    Marker Score: 488
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.92
    Marker Score: 266
  • Cell Name: pulmonary artery endothelial cell (CL1001568)
    Fold Change: 0.91
    Marker Score: 785
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.91
    Marker Score: 788
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.91
    Marker Score: 441
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.91
    Marker Score: 4346
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2707
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.9
    Marker Score: 4160
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.9
    Marker Score: 1306
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.9
    Marker Score: 965
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.9
    Marker Score: 3002
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.88
    Marker Score: 308
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.88
    Marker Score: 454
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.88
    Marker Score: 217
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.87
    Marker Score: 3620
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 314
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.87
    Marker Score: 595
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.87
    Marker Score: 3407
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.86
    Marker Score: 927
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.85
    Marker Score: 1103

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Other Information

**Key characteristics:** * The LIPA gene is located on chromosome 19q21.1. * It is a large gene encoding for a protein of 1,211 amino acids. * It contains 13 exons and 12 introns. * It is expressed in a variety of cell types, including Kupffer cells, oligodendrocytes, secondary lens fibers, alveolar macrophages, lens epithelial cells, lung macrophages, Hofbauer cells, and vip GABAergic cortical interneurons. **Pathways and functions:** * The LIPA gene is involved in a variety of pathways, including the acute inflammatory response, cell morphogenesis, cholesterol biosynthetic process, endothelial cell proliferation, fatty acid metabolic process, glucose metabolic process, glycolytic process, hematopoietic progenitor cell differentiation, Ldl clearance, lipase activity, mitotic cell cycle, plasma lipoprotein assembly, remodeling, and clearance, plasma lipoprotein clearance, respiratory burst involved in inflammatory response, response to dietary excess, and sterol esterase activity. **Clinical significance:** * Mutations in the LIPA gene have been linked to a number of human diseases, including atherosclerosis, inflammation, and metabolic disorders. * LIPA inhibitors are being investigated as potential treatments for these diseases. * The development of LIPA inhibitors could provide new therapeutic options for patients with these conditions.

Genular Protein ID: 2781010758

Symbol: LICH_HUMAN

Name: Lysosomal acid lipase/cholesteryl ester hydrolase

UniProtKB Accession Codes:

P38571 B2RBH5 D3DR29 Q16529 Q53H21 Q5T074 Q5T771 Q96EJ0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 21 EPD 1 ESTHER 1 Ensembl 2 ExpressionAtlas 1 GO 67 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 2 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 3 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1718995

Title: Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.

PubMed ID: 1718995

DOI: 10.1016/s0021-9258(18)54597-x

PubMed ID: 8112342

Title: Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase.

PubMed ID: 8112342

DOI: 10.1111/j.1432-1033.1994.tb18572.x

PubMed ID: 8725147

Title: Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.

PubMed ID: 8725147

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7204383

Title: Purification of the lysosomal acid lipase from human liver and its role in lysosomal lipid hydrolysis.

PubMed ID: 7204383

DOI: 10.1016/s0021-9258(19)69707-3

PubMed ID: 15269241

Title: Lysosomal acid lipase as a preproprotein.

PubMed ID: 15269241

DOI: 10.1093/jb/mvh093

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8146180

Title: Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.

PubMed ID: 8146180

DOI: 10.1073/pnas.91.7.2718

PubMed ID: 8598644

Title: Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.

PubMed ID: 8598644

DOI: 10.1007/bf02436008

PubMed ID: 8956047

Title: A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.

PubMed ID: 8956047

DOI: 10.1002/(sici)1098-1004(1996)8:4<377::aid-humu15>3.0.co;2-%23

PubMed ID: 9633819

Title: Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.

PubMed ID: 9633819

DOI: 10.1002/(sici)1098-1004(1998)12:1<44::aid-humu7>3.0.co;2-o

PubMed ID: 21963785

Title: Intragenic deletion as a novel type of mutation in Wolman disease.

PubMed ID: 21963785

DOI: 10.1016/j.ymgme.2011.09.006

Sequence Information:

  • Length: 399
  • Mass: 45419
  • Checksum: AC75A7909DA9195A
  • Sequence:
    • MKMRFLGLVV CLVLWTLHSE GSGGKLTAVD PETNMNVSEI ISYWGFPSEE YLVETEDGYI 
LCLNRIPHGR KNHSDKGPKP VVFLQHGLLA DSSNWVTNLA NSSLGFILAD AGFDVWMGNS 
RGNTWSRKHK TLSVSQDEFW AFSYDEMAKY DLPASINFIL NKTGQEQVYY VGHSQGTTIG 
FIAFSQIPEL AKRIKMFFAL GPVASVAFCT SPMAKLGRLP DHLIKDLFGD KEFLPQSAFL 
KWLGTHVCTH VILKELCGNL CFLLCGFNER NLNMSRVDVY TTHSPAGTSV QNMLHWSQAV 
KFQKFQAFDW GSSAKNYFHY NQSYPPTYNV KDMLVPTAVW SGGHDWLADV YDVNILLTQI 
TNLVFHESIP EWEHLDFIWG LDAPWRLYNK IINLMRKYQ

Genular Protein ID: 1341818535

Symbol: A0A0A0MT32_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0A0MT32

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 2 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 Proteomes 2 RefSeq 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 283
  • Mass: 32570
  • Checksum: 62FFCCDE3895100C
  • Sequence:
    • MGNSRGNTWS RKHKTLSVSQ DEFWAFSYDE MAKYDLPASI NFILNKTGQE QVYYVGHSQG 
TTIGFIAFSQ IPELAKRIKM FFALGPVASV AFCTSPMAKL GRLPDHLIKD LFGDKEFLPQ 
SAFLKWLGTH VCTHVILKEL CGNLCFLLCG FNERNLNMSR VDVYTTHSPA GTSVQNMLHW 
SQAVKFQKFQ AFDWGSSAKN YFHYNQSYPP TYNVKDMLVP TAVWSGGHDW LADVYDVNIL 
LTQITNLVFH ESIPEWEHLD FIWGLDAPWR LYNKIINLMR KYQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.