Details for: ABHD5

Gene ID: 51099

Symbol: ABHD5

Ensembl ID: ENSG00000011198

Description: abhydrolase domain containing 5, lysophosphatidic acid acyltransferase

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: 169.5970
    Cell Significance Index: -26.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.7992
    Cell Significance Index: -33.4300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 89.6716
    Cell Significance Index: -36.9400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 73.8941
    Cell Significance Index: -30.0200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 68.6256
    Cell Significance Index: -35.3000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 26.6838
    Cell Significance Index: -32.9000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.1101
    Cell Significance Index: -35.1200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.3604
    Cell Significance Index: -28.7500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 8.8316
    Cell Significance Index: -34.8500
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: 5.7582
    Cell Significance Index: 7.4500
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 3.5244
    Cell Significance Index: 21.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.1223
    Cell Significance Index: 272.0700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.0339
    Cell Significance Index: 95.5900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.4326
    Cell Significance Index: 74.4200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1960
    Cell Significance Index: 194.5200
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 1.1912
    Cell Significance Index: 15.0000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9230
    Cell Significance Index: 833.3700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9127
    Cell Significance Index: 24.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8955
    Cell Significance Index: 179.6300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8634
    Cell Significance Index: 23.5000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7510
    Cell Significance Index: 45.0900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.7496
    Cell Significance Index: 55.8700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7321
    Cell Significance Index: 15.8600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7167
    Cell Significance Index: 33.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6874
    Cell Significance Index: 19.8100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.6745
    Cell Significance Index: 121.5900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6598
    Cell Significance Index: 85.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.6578
    Cell Significance Index: 80.8800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.5960
    Cell Significance Index: 27.0200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5957
    Cell Significance Index: 263.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5653
    Cell Significance Index: 107.5800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.5118
    Cell Significance Index: 9.4600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4391
    Cell Significance Index: 157.5100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.4318
    Cell Significance Index: 30.5400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3931
    Cell Significance Index: 3.6200
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.3551
    Cell Significance Index: 6.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.3405
    Cell Significance Index: 9.7600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3333
    Cell Significance Index: 32.9700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2752
    Cell Significance Index: 6.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1893
    Cell Significance Index: 25.9900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1331
    Cell Significance Index: 92.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1291
    Cell Significance Index: 70.5100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1173
    Cell Significance Index: 9.0100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.1166
    Cell Significance Index: 0.7600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1101
    Cell Significance Index: 3.8700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1091
    Cell Significance Index: 21.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1034
    Cell Significance Index: 11.8500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0890
    Cell Significance Index: 6.1600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0813
    Cell Significance Index: 13.8900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0779
    Cell Significance Index: 8.8900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0193
    Cell Significance Index: 2.2800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0021
    Cell Significance Index: 2.8800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0048
    Cell Significance Index: -9.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0053
    Cell Significance Index: -3.9100
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0090
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0099
    Cell Significance Index: -6.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0133
    Cell Significance Index: -24.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0157
    Cell Significance Index: -24.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0200
    Cell Significance Index: -15.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0214
    Cell Significance Index: -15.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0300
    Cell Significance Index: -18.7600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0378
    Cell Significance Index: -21.3200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0451
    Cell Significance Index: -4.6100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0502
    Cell Significance Index: -22.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0859
    Cell Significance Index: -24.7200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1004
    Cell Significance Index: -21.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1137
    Cell Significance Index: -13.2500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1329
    Cell Significance Index: -2.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1345
    Cell Significance Index: -3.7600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1391
    Cell Significance Index: -20.2200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1466
    Cell Significance Index: -2.0000
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1482
    Cell Significance Index: -2.2200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1509
    Cell Significance Index: -9.7400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1591
    Cell Significance Index: -10.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1660
    Cell Significance Index: -11.1600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1681
    Cell Significance Index: -3.5800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1837
    Cell Significance Index: -3.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2144
    Cell Significance Index: -12.0300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2629
    Cell Significance Index: -11.6300
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.2894
    Cell Significance Index: -1.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3235
    Cell Significance Index: -33.6800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3306
    Cell Significance Index: -20.3200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3368
    Cell Significance Index: -12.7600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3687
    Cell Significance Index: -11.8100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3723
    Cell Significance Index: -29.4900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3794
    Cell Significance Index: -19.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4022
    Cell Significance Index: -24.6600
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.4526
    Cell Significance Index: -4.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4848
    Cell Significance Index: -25.2500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.4943
    Cell Significance Index: -3.8100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5088
    Cell Significance Index: -8.7200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.5484
    Cell Significance Index: -12.6700
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.5672
    Cell Significance Index: -13.8400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.5697
    Cell Significance Index: -3.8600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.6245
    Cell Significance Index: -17.8200
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.6604
    Cell Significance Index: -3.9900
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.6792
    Cell Significance Index: -14.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6899
    Cell Significance Index: -23.9800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.6913
    Cell Significance Index: -14.4700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7018
    Cell Significance Index: -18.0400

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:** ABHD5 is a member of the abhydrolase domain-containing protein family, characterized by the presence of a hydrolase domain and a lysophosphatidic acid acyltransferase activity. The protein is highly conserved across species, suggesting its essential role in lipid metabolism. ABHD5 is predominantly expressed in cells involved in lipid metabolism, including adipocytes, hepatocytes, and immune cells. The protein's ability to regulate triglyceride catabolism makes it an attractive target for the development of novel lipid-lowering therapies. **Pathways and Functions:** ABHD5 is involved in various cellular pathways, including: 1. **Lipid Metabolism:** ABHD5 regulates triglyceride catabolism by facilitating the breakdown of triglycerides into fatty acids and glycerol. This process is critical for maintaining lipid homeostasis and preventing the accumulation of toxic lipid intermediates. 2. **Cell Differentiation:** ABHD5 has been shown to regulate cell differentiation in various cell types, including hematopoietic cells and stem cells. The protein's ability to modulate cell differentiation makes it a potential target for the development of novel therapies for diseases characterized by abnormal cell differentiation. 3. **Lipid Homeostasis:** ABHD5 plays a crucial role in maintaining lipid homeostasis by regulating the levels of triglycerides and phospholipids in cells. Dysregulation of ABHD5 has been implicated in various diseases, including metabolic disorders and cardiovascular disease. 4. **Inflammation:** ABHD5 has been shown to regulate inflammatory responses in immune cells, including T cells and macrophages. The protein's ability to modulate inflammation makes it a potential target for the development of novel anti-inflammatory therapies. **Clinical Significance:** ABHD5 has been implicated in various diseases, including: 1. **Metabolic Disorders:** ABHD5 has been shown to play a role in the development of metabolic disorders, including type 2 diabetes and obesity. Dysregulation of ABHD5 has been linked to impaired lipid metabolism and insulin resistance. 2. **Cardiovascular Disease:** ABHD5 has been implicated in the development of cardiovascular disease, including atherosclerosis and heart failure. The protein's ability to regulate lipid metabolism makes it a potential target for the development of novel cardiovascular therapies. 3. **Immune-Related Disorders:** ABHD5 has been shown to regulate immune responses in various cell types, including T cells and macrophages. Dysregulation of ABHD5 has been linked to autoimmune disorders, including rheumatoid arthritis and multiple sclerosis. In conclusion, ABHD5 is a multifaceted protein that plays a critical role in lipid metabolism, cell differentiation, and inflammation. Its dysregulation has been implicated in various diseases, including metabolic disorders, cardiovascular disease, and immune-related disorders. Further research is needed to fully understand the mechanisms by which ABHD5 regulates lipid metabolism and to identify its potential therapeutic applications.

Genular Protein ID: 1621913902

Symbol: ABHD5_HUMAN

Name: Abhydrolase domain-containing protein 5

UniProtKB Accession Codes:

Q8WTS1 B2R9K0 Q9Y369

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 36 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 6 ESTHER 1 Ensembl 2 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 18 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11590543

Title: Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.

PubMed ID: 11590543

DOI: 10.1086/324121

PubMed ID: 10810093

Title: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.

PubMed ID: 10810093

DOI: 10.1101/gr.10.5.703

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 16679289

Title: Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.

PubMed ID: 16679289

DOI: 10.1016/j.cmet.2006.03.005

PubMed ID: 18832586

Title: CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.

PubMed ID: 18832586

DOI: 10.2353/ajpath.2008.080005

PubMed ID: 18606822

Title: CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.

PubMed ID: 18606822

DOI: 10.1074/jbc.m801783200

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 15967942

Title: Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.

PubMed ID: 15967942

DOI: 10.1001/archderm.141.6.798

PubMed ID: 17495960

Title: A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.

PubMed ID: 17495960

DOI: 10.1038/sj.jid.5700860

Sequence Information:

  • Length: 349
  • Mass: 39096
  • Checksum: 85958A2DEC169C82
  • Sequence:
    • MAAEEEEVDS ADTGERSGWL TGWLPTWCPT SISHLKEAEE KMLKCVPCTY KKEPVRISNG 
NKIWTLKFSH NISNKTPLVL LHGFGGGLGL WALNFGDLCT NRPVYAFDLL GFGRSSRPRF 
DSDAEEVENQ FVESIEEWRC ALGLDKMILL GHNLGGFLAA AYSLKYPSRV NHLILVEPWG 
FPERPDLADQ DRPIPVWIRA LGAALTPFNP LAGLRIAGPF GLSLVQRLRP DFKRKYSSMF 
EDDTVTEYIY HCNVQTPSGE TAFKNMTIPY GWAKRPMLQR IGKMHPDIPV SVIFGARSCI 
DGNSGTSIQS LRPHSYVKTI AILGAGHYVY ADQPEEFNQK VKEICDTVD

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.