Property Summary

NCBI Gene PubMed Count 35
PubMed Score 87.94
PubTator Score 60.29

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
esophageal adenocarcinoma -1.600 2.5e-02
osteosarcoma -2.143 5.0e-04
glioblastoma 1.100 4.5e-03
non diabetic and post-ischemic heart fai... -1.200 3.2e-02
lung cancer -1.400 2.3e-04
lung carcinoma -1.100 7.3e-15
spina bifida -2.349 4.6e-02
mucosa-associated lymphoid tissue lympho... 1.020 1.3e-02

Protein-protein Interaction (8)

MLP Assay (14)

AID Type Active / Inconclusive / Inactive Description
493027 screening 45 / 0 / 1937 Luminescence-based biochemical high throughput validation assay to identify inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-1 (PLIN1)
493035 screening 46 / 0 / 1936 Luminescence-based biochemical high throughput validation assay to identify inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5)
493057 summary 0 / 0 / 0 Summary of the probe development efforts to identify inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-1 (PLIN1)
493241 summary 0 / 0 / 0 Summary of the probe development efforts to identify inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with the muscle lipid droplet protein, perilipin-5 (PLIN5; MLDP)
504317 confirmatory 32 / 0 / 13 Luminescence-based biochemical high throughput dose response assay for inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-1 (PLIN1) (2K validation set)
602281 screening 2853 / 0 / 361278 Luminescence-based biochemical primary high throughput screening assay to identify inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5)
651612 screening 1513 / 0 / 736 Luminescence-based biochemical high throughput confirmation assay for inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5)
651677 confirmatory 198 / 0 / 36 Luminescence-based biochemical high throughput dose response assay for inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5)
651733 confirmatory 186 / 0 / 48 Luminescence-based biochemical high throughput dose response assay for inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5) produced in HEK293T cells
651759 confirmatory 32 / 0 / 16 Late stage luminescence-based biochemical dose response assay for inhibitors of the interaction of the lipase co-activator protein, abhydrolase domain containing 5 (ABHD5) with perilipin-5 (MLDP; PLIN5) produced in HEK293T cells
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Gene RIF (28)

PMID Text
26353074 novel ABHD5 truncating variant in a twenty nine month old female child, who presented with icthyosiform erythroderma.
26350461 simultaneous tryptophan alanine permutations in both arms abolish localization and activity of CGI-58 as opposed to tryptophan substitutions that occur in only one arm.
26330055 Authors show that rat ATGL, coactivated by rat CGI-58, efficiently hydrolyzes triglycerides and retinyl ester.
25682902 this study presents clinical and molecular data of four affected relatives with Chanarin-Dorfman syndrome homozygous for a N209X mutation in ABHD5, and provides a short review by comparing patients with N209X homozygous mutations to patients with other ABHD5 mutations.
25482557 Abhd5 expression falls substantially and correlates negatively with malignant features in human colorectal cancer.
25421061 -mediated phosphorylation of CGI-58 is required for dispersion of CGI-58 from perilipin 1A-coated lipid droplets
25315780 Findings indicate a molecular mechanisms by which lysophosphatidic acid acyltransferase CGI-58 regulates lipid homeostasis.
25054327 PLIN5 was significantly colocated with ATGL, mitochondria and CGI-58, indicating a close association between the key lipolytic effectors in resting skeletal muscle.
23557589 ABHD5, PGRMC1 and SQS are novel markers for sebaceous carcinoma and can reliably distinguish sebaceous neoplasms from non-sebaceous tumors, specifically BCC with clear cell features.
22383684 an important metabolic function of CGI-58 in skeletal muscle
22373837 A novel nonsense mutation of ABHD5 is reported in a consanguineous Afgani family with 4 sibs with Dorfman Chanarin syndrome; the mutation leads to protein truncation by 14 AAs; findings include liver cirrhosis, corneal opacities,tessellated fundus
22245374 A report of two Chanarin-Dorfman syndrome sisters with severe steatohepatitis and decompensated cirrhosis due to steatohepatitis in whom the clinical presentation developed due to a new mutation in ABHD5 gene.
21757733 the C terminus sequesters ABHD5 and thus inhibits basal ATGL activity
21122093 First report of large genomic deletions in the ABHD5 gene in Chanarin-Dorfman syndrome patients from Mediterranean countries.
20520629 CGI-58 not only facilitates triglyceride lipolysis, but also provides fatty acid for esterification of ceremide leading to acylceremides
20370797 Observational study of gene-disease association. (HuGE Navigator)
20307695 analysis of novel mutations in the ABHD5 gene in Chanarin-Dorfman syndrome (CDS) patients
19401457 review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism [review]
19061969 Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. (Review)
18832586 CGI-58 is expressed and packaged into lamellar granules (LG) during keratinization and likely plays crucial role(s) in keratinocyte differentiation and LG lipid metabolism, contributing to skin lipid barrier formation.
18606822 CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid
18339307 These data enriches the list of CGI-58 mutations associated with Chanarin-Dorfman syndrome and confirms the clinical and allelic heterogeneity of this disease, especially the inconsistent muscle involvement.
17631826 Deficient in lipid storage diseases.
17495960 analysis of a novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome [case report]
17308334 CGI-58 facilitates lipolysis in cooperation with perilipin and other factors, including lipases
16679289 CGI-58 interacts with adipose triglyceride lipase, stimulating its TG hydrolase activity up to 20-fold
15967942 ABDH5 gene mutation is found in patients diagnosed with Chanarin Dorfman syndrome.
11590543 mutational analysis in Chanarin-Dorfman syndrome

AA Sequence

MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTYKKEPVRISNGNKIWTLKFSH      1 - 70
NISNKTPLVLLHGFGGGLGLWALNFGDLCTNRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRC     71 - 140
ALGLDKMILLGHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRALGAALTPFNP    141 - 210
LAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIYHCNVQTPSGETAFKNMTIPYGWAKRPMLQR    211 - 280
IGKMHPDIPVSVIFGARSCIDGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD     281 - 349
//

Text Mined References (38)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26353074 2016 Chanarin Dorfman syndrome: a case report with novel nonsense mutation.
26350461 2015 Structure of a CGI-58 motif provides the molecular basis of lipid droplet anchoring.
26330055 2015 ATGL and CGI-58 are lipid droplet proteins of the hepatic stellate cell line HSC-T6.
25682902 2015 Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation.
25482557 2014 Loss of abhd5 promotes colorectal tumor development and progression by inducing aerobic glycolysis and epithelial-mesenchymal transition.
25421061 2015 CGI-58/ABHD5 is phosphorylated on Ser239 by protein kinase A: control of subcellular localization.
25315780 2014 Comparative gene identification-58 (CGI-58) promotes autophagy as a putative lysophosphatidylglycerol acyltransferase.
25054327 2014 Cellular localization and associations of the major lipolytic proteins in human skeletal muscle at rest and during exercise.
23557589 2013 Lipid synthesis and processing proteins ABHD5, PGRMC1 and squalene synthase can serve as novel immunohistochemical markers for sebaceous neoplasms and differentiate sebaceous carcinoma from sebaceoma and basal cell carcinoma with clear cell features.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22383684 2012 Regulation of skeletal muscle lipolysis and oxidative metabolism by the co-lipase CGI-58.
22373837 2012 Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: a challenge for genotype-phenotype correlation.
22245374 2012 Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation.
21757733 2011 Human frame shift mutations affecting the carboxyl terminus of perilipin increase lipolysis by failing to sequester the adipose triglyceride lipase (ATGL) coactivator AB-hydrolase-containing 5 (ABHD5).
21498505 2011 Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine.
21122093 2010 Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
20520629 2010 Neutral lipid storage leads to acylceramide deficiency, likely contributing to the pathogenesis of Dorfman-Chanarin syndrome.
20370797 2010 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20307695 Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene.
19401457 2009 Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5.
19061969 2009 Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase.
18832586 2008 CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes.
18606822 2008 CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.
18339307 2008 Clinical and genetic characterization of Chanarin-Dorfman syndrome.
17631826 [Neutral lipid storage diseases and ATGL (adipose triglyceride lipase) and CGI-58/ABHD5 (alpha-beta hydrolase domain-containing 5) deficiency: myopathy, ichthyosis, but no obesity].
17495960 2007 A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome.
17308334 2007 CGI-58 facilitates lipolysis on lipid droplets but is not involved in the vesiculation of lipid droplets caused by hormonal stimulation.
16679289 2006 Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
15967942 2005 Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11590543 2001 Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.