Details for: LIPA

Gene ID: 3988

Symbol: LIPA

Ensembl ID: ENSG00000107798

Description: lipase A, lysosomal acid type

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 282.2973
    Cell Significance Index: -43.9100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 150.4080
    Cell Significance Index: -38.1500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 100.2312
    Cell Significance Index: -41.2900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 99.7834
    Cell Significance Index: -47.1100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 87.9594
    Cell Significance Index: -45.2500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 35.9705
    Cell Significance Index: -44.3500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.4898
    Cell Significance Index: -41.5000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.8110
    Cell Significance Index: -42.4200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.3607
    Cell Significance Index: -44.8300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.7395
    Cell Significance Index: 271.0000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.8408
    Cell Significance Index: 28.4800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.1305
    Cell Significance Index: 76.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.0890
    Cell Significance Index: 390.6200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0297
    Cell Significance Index: 206.5500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9307
    Cell Significance Index: 840.3300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8565
    Cell Significance Index: 99.8100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7292
    Cell Significance Index: 79.3200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7114
    Cell Significance Index: 115.7100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6752
    Cell Significance Index: 41.5000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6697
    Cell Significance Index: 132.9100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5947
    Cell Significance Index: 35.7000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.4322
    Cell Significance Index: 274.4900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.4237
    Cell Significance Index: 12.0900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4160
    Cell Significance Index: 79.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3934
    Cell Significance Index: 27.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2898
    Cell Significance Index: 52.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2819
    Cell Significance Index: 36.1400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2683
    Cell Significance Index: 185.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2513
    Cell Significance Index: 34.5100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.2469
    Cell Significance Index: 335.6600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2319
    Cell Significance Index: 28.5100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2135
    Cell Significance Index: 328.6100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1928
    Cell Significance Index: 105.2700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1716
    Cell Significance Index: 2.9400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1266
    Cell Significance Index: 2.3400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1138
    Cell Significance Index: 214.3300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1033
    Cell Significance Index: 45.6900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0878
    Cell Significance Index: 161.8400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0626
    Cell Significance Index: 1.3700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0146
    Cell Significance Index: 0.3500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0182
    Cell Significance Index: -8.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0183
    Cell Significance Index: -13.5200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0188
    Cell Significance Index: -1.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0290
    Cell Significance Index: -16.3800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0297
    Cell Significance Index: -22.5000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0316
    Cell Significance Index: -23.1500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0319
    Cell Significance Index: -5.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0350
    Cell Significance Index: -21.8600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0367
    Cell Significance Index: -2.3700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0795
    Cell Significance Index: -11.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1090
    Cell Significance Index: -4.9400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1157
    Cell Significance Index: -13.6500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1204
    Cell Significance Index: -6.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1249
    Cell Significance Index: -35.9400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1297
    Cell Significance Index: -9.9600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1342
    Cell Significance Index: -28.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1601
    Cell Significance Index: -20.6900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1731
    Cell Significance Index: -3.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1858
    Cell Significance Index: -6.5300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2238
    Cell Significance Index: -3.9600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2559
    Cell Significance Index: -18.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2774
    Cell Significance Index: -31.7800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2810
    Cell Significance Index: -20.9400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2823
    Cell Significance Index: -12.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3150
    Cell Significance Index: -8.4400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3406
    Cell Significance Index: -4.2300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3771
    Cell Significance Index: -43.0400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3791
    Cell Significance Index: -39.4700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3990
    Cell Significance Index: -15.1100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3994
    Cell Significance Index: -20.7500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4142
    Cell Significance Index: -11.0600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4319
    Cell Significance Index: -12.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4647
    Cell Significance Index: -28.4900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4682
    Cell Significance Index: -12.5300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4694
    Cell Significance Index: -22.0600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4735
    Cell Significance Index: -7.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4753
    Cell Significance Index: -11.8800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5358
    Cell Significance Index: -42.4400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.5780
    Cell Significance Index: -11.2800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5841
    Cell Significance Index: -27.2400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.6020
    Cell Significance Index: -17.6800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6041
    Cell Significance Index: -12.8700
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.6177
    Cell Significance Index: -14.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6398
    Cell Significance Index: -33.5900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.7360
    Cell Significance Index: -10.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.7508
    Cell Significance Index: -19.1800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8429
    Cell Significance Index: -24.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.8435
    Cell Significance Index: -53.1700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.9111
    Cell Significance Index: -24.8000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.9231
    Cell Significance Index: -40.1400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.9425
    Cell Significance Index: -47.6300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.9694
    Cell Significance Index: -31.0500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9830
    Cell Significance Index: -34.1600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.0916
    Cell Significance Index: -35.7400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.1095
    Cell Significance Index: -35.0900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.1338
    Cell Significance Index: -36.1100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1367
    Cell Significance Index: -39.8200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.1389
    Cell Significance Index: -41.8100
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -1.1864
    Cell Significance Index: -12.7200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -1.2300
    Cell Significance Index: -25.7500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Lysosomal Acid Lipase (LAL) Function:** LAL is a lysosomal enzyme responsible for the hydrolysis of cholesterol esters and triglycerides, playing a critical role in lipid metabolism. 2. **Gene Expression:** LIPA is widely expressed in various cell types, including immune cells, endothelial cells, and neurons, suggesting its involvement in multiple physiological processes. 3. **Significant Expression in Specific Cells:** LIPA is highly expressed in cells of the immune system, such as macrophages and dendritic cells, highlighting its role in immune function and lipid metabolism. 4. **Contribution to Lipid Homeostasis:** LIPA's role in lipid degradation and metabolism contributes to maintaining lipid homeostasis, which is essential for cell growth, differentiation, and survival. **Pathways and Functions:** 1. **Lipid Metabolism:** LIPA's primary function is the degradation of cholesterol esters and triglycerides, which is essential for lipid homeostasis. 2. **Immune Function:** LIPA is highly expressed in immune cells, where it plays a critical role in lipid metabolism and immune cell function. 3. **Cell Proliferation and Differentiation:** LIPA's involvement in lipid metabolism and cell growth suggests its role in regulating cellular processes, including cell proliferation and differentiation. 4. **Endocytosis and Exocytosis:** LIPA's function in lipid degradation and metabolism is linked to endocytic and exocytic pathways, highlighting its involvement in cellular trafficking and transport. **Clinical Significance:** 1. **Lysosomal Acid Lipase Deficiency (LALD):** Mutations in the LIPA gene are associated with LALD, a rare and severe genetic disorder characterized by the accumulation of lipids in various tissues, leading to progressive organ damage and early mortality. 2. **Lipid Metabolic Disorders:** LIPA's role in lipid metabolism suggests its involvement in various lipid metabolic disorders, including hyperlipidemia and atherosclerosis. 3. **Immune Function and Inflammation:** LIPA's expression in immune cells and its role in lipid metabolism highlight its potential involvement in immune function and inflammation. 4. **Neurological Disorders:** LIPA's expression in neurons and its role in lipid metabolism suggest its potential involvement in neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, LIPA plays a critical role in lysosomal lipid metabolism and has implications for various physiological processes, including immune function, cell proliferation, and differentiation. Its association with LALD and potential involvement in lipid metabolic disorders highlight the importance of LIPA in maintaining human health. Further research is necessary to fully elucidate the role of LIPA in human disease and develop therapeutic strategies to target this gene.

Genular Protein ID: 2781010758

Symbol: LICH_HUMAN

Name: Lysosomal acid lipase/cholesteryl ester hydrolase

UniProtKB Accession Codes:

Database IDs:

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-#

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:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15164054

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

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.