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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABHD5 Gene

protein-coding GIFtS: 60
GCID: GC03P043707

abhydrolase domain containing 5

Explore 13 diseases affiliated with
ABHD5 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 5¹ ²		CGI58² ⁵
NCIE2¹ ² ³ ⁵		IECN2² ⁵
Abhydrolase Domain-Containing Protein 5² ³		CGI-58¹
Lipid Droplet-Binding Protein CGI-58² ³		1-Acylglycerol-3-Phosphate O-Acyltransferase ABHD5²
EC 2.3.1.51³ ⁸		CDS²

External Ids:	HGNC: 21396¹	Entrez Gene: 51099²	Ensembl: ENSG00000011198⁷	OMIM: 604780⁵	UniProtKB: Q8WTS1³

Export aliases for ABHD5 gene to outside databases

Previous GC identifers: GC03P043551 GC03P043693 GC03P043692

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ABHD5:

The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and

contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase

subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine

instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a

triglyceride storage disease with impaired long-chain fatty acid oxidation. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1

Function: Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the

cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte

differentiation

Gene Wiki entry for ABHD5

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABHD5 gene promoter:
AML1a Meis-1b CREB POU2F1 POU2F1a deltaCREB Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABHD5 promoter sequence

Search SABiosciences Chromatin IP Primers for ABHD5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD5

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21 Ensembl cytogenetic band: 3p21.33 HGNC cytogenetic band: 3p21.33

ABHD5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD5 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P043707: view genomic region (about GC identifiers)

Start:	43,731,605 bp from pter	End:	43,775,863 bp from pter
Size:	44,259 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1 (See protein sequence)

Recommended Name: 1-acylglycerol-3-phosphate O-acyltransferase ABHD5

Size: 349 amino acids; 39096 Da

Subunit: Interacts with ADRP, PLIN and PNPLA2 (By similarity)

Subcellular location: Cytoplasm. Lipid droplet (By similarity). Note=Colocalized with PLIN and ADRP on the surface of

lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By

similarity)

Developmental stage: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level)

Secondary accessions: B2R9K0 Q9Y369

Explore the universe of human proteins at neXtProt for ABHD5: NX_Q8WTS1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WTS1

2 DME Specific Peptides for ABHD5 (Q8WTS1)

PDIPVSVI

HLILVEPWGFPERPDLADQ

ABHD5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_057090.2

ENSEMBL proteins:

ENSP00000391582 ENSP00000390849 ENSP00000013894 ENSP00000412014 ENSP00000392159

Reactome Protein details: Q8WTS1
Human Recombinant Protein Products:

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	Novus Biologicals ABHD5 Proteins Novus Biologicals ABHD5 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ABHD5

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005811	lipid particle	ISS	--
GO:0005829	cytosol	ISS	--

ABHD5 for ontologies About GeneDecksing

ABHD5 Antibody Products:

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	Uscn ELISAs and CLIAs for ABHD5

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ABHD5 for domains About GeneDecksing

1 InterPro domain/family:

IPR000073 AB_hydrolase_1

Graphical View of Domain Structure for InterPro Entry Q8WTS1

ProtoNet protein and cluster: Q8WTS1

3 Blocks protein families:

IPB000073 Alpha/beta hydrolase fold

IPB002410 Prolyl aminopeptidase (S33) family signature

IPB003089 Alpha/beta hydrolase fold signature

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1

Domain: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the

phosphate moiety of the glycerol-3-phosphate (By similarity)

Similarity: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1

Function: Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the

cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte

differentiation

Catalytic activity: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate

Induction: Up-regulated upon keratinocyte differentiation (at protein level)

Enzyme Number (IUBMB): EC 2.3.1.51¹ ²

miRNA Products:		miRTarBase miRNAs that target ABHD5: hsa-mir-124 (MIRT002698)

		OriGene 3'-UTR Clone: ABHD5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD5
		8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD5 (see all 58):
		hsa-miR-4291 hsa-miR-142-5p hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-106a hsa-miR-128

		SwitchGear 3'UTR luciferase reporter plasmid: ABHD5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD5 (see all 7) OriGene shRNA RFP: ABHD5 OriGene siRNA: ABHD5
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for ABHD5

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ABHD5
		Search LifeMap BioReagents cell lines for ABHD5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD5

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003841	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA	--
GO:0004806	NOT triglyceride lipase activity	ISS	--
GO:0005515	protein binding	--	--
GO:0008233	peptidase activity	--	--
GO:0042171	lysophosphatidic acid acyltransferase activity	IDA	18606822

ABHD5 for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for ABHD5:

Decreased viability of wild-ty

Increased G1 DNA content

Synthetic lethal with Ras

Animal Models:
Mouse knock-out Abhd5^tm1.1Rze for ABHD5
9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Abhd5):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	immune system
integument	liver/biliary system	mortality/aging	skeleton

ABHD5 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

CDP-diacylglycerol biosynthesis I

	CDP-diacylglycerol biosynthesis I	1.00			triacylglycerol biosynthesis	0.50
	phosphatidylglycerol biosynthesis II (non-plastidic)	0.94

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis

Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis

1.00

Lipoprotein metabolism

Lipid digestion, mobilization, and transport

0.56

Pathway sources
See GeneCards unified pathways
Show all pathways

3 BioSystems Pathways for ABHD5

	CDP-diacylglycerol biosynthesis I
	triacylglycerol biosynthesis
	phosphatidylglycerol biosynthesis II (non-plastidic)

4 Reactome Pathways for ABHD5

	Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis
	Lipid digestion, mobilization, and transport
	Metabolism
	Metabolism of lipids and lipoproteins

ABHD5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ABHD5

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

5/17 Interacting proteins for ABHD5 (Q8WTS1^{2, 3} ENSP00000390849⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PLIN2	Q99541³, ENSP00000276914⁴	I2D: score=1 STRING: ENSP00000276914
PLIN1	O60240³, ENSP00000300055⁴	I2D: score=2 STRING: ENSP00000300055
AGPAT6	ENSP00000380184⁴	STRING: ENSP00000380184
AGPAT9	ENSP00000264409⁴	STRING: ENSP00000264409
CAV1	ENSP00000339191⁴	STRING: ENSP00000339191

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	--	--
GO:0006629	lipid metabolic process	TAS	--
GO:0006631	fatty acid metabolic process	IEA	--
GO:0006654	phosphatidic acid biosynthetic process	IDA	18606822
GO:0010891	negative regulation of sequestering of triglyceride	IDA	16679289

ABHD5 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ABHD5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABHD5
2 Novoseek chemical compound relationships for ABHD5 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipid	54.2	22	20023287 (5), 18832586 (4), 14708602 (2), 16741516 (1) (see all 7)
triacylglycerol	43.5	7	20023287 (3), 18832586 (1), 20190389 (1)

Search CenterWatch for drugs/clinical trials and news about ABHD5

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ABHD5 gene:

NM_016006.4

Unigene Cluster for ABHD5:

Abhydrolase domain containing 5

Hs.19385 [show with all ESTs]

Unigene Representative Sequence: NM_016006

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000456453 ENST00000458276(uc003cmx.3) ENST00000486764 ENST00000013894

ENST00000454293 ENST00000413300 ENST00000463153

miRNA Products:		OriGene 3'-UTR Clone: ABHD5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD5
		8/58 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD5 (see all 58):
		hsa-miR-4291 hsa-miR-142-5p hsa-miR-582-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-106a hsa-miR-128

		SwitchGear 3'UTR luciferase reporter plasmid: ABHD5 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD5 (see all 7) OriGene shRNA RFP: ABHD5 OriGene siRNA: ABHD5
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD5 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ABHD5 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD5

Additional cDNA sequence:

AF007132.1 AF151816.1 AK022457.1 AK313811.1 BC021958.1

15 DOTS entries:

DT.452123 DT.91727096 DT.444182 DT.411898 DT.95151610 DT.100009772 DT.40257487 DT.120874844

DT.103965 DT.120874788 DT.120874794 DT.95110189 DT.95269879 DT.92053549 DT.92060879

24/214 AceView cDNA sequences (see all 214):

BM713908 AI699748 BE466740 BQ023594 AA732530 AA733195 NM_016006 AI075299

AI399957 BM712057 AU140582 F09359 CA311096 AI990788 N71441 AI742474

BU622105 BU674647 BM971083 AI022028 BM676523 AA100483 AW117539 AI672617

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD5 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	·	8c	^	9a	·	9b	^	10	^	11	^	12a	·	12b
SP1:							-				-		-
SP2:							-
SP3:					-		-				-		-
SP4:																									-
SP5:											-		-

ECgene alternative splicing isoforms for ABHD5

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ABHD5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTCTTTAG

About this image

ABHD5 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

Extraembryonic endoderm-like cells (Generation of extrae...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABHD5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABHD5

SOURCE GeneReport for Unigene cluster: Hs.19385

UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1

Tissue specificity: Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain.

Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons (at protein level)

SABiosciences Custom PCR Arrays for ABHD5

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD5

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ABHD5 gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	B3TZB3_CHICK⁶	abhydrolase domain containing 5	80(a)	1 ↔ 1	2(40864581-40893160)
lizard (Anolis carolinensis)	Reptilia	ABHD5⁶	--	83(a)	1 ↔ 1	1(192903507-192917950)
zebrafish (Danio rerio)	Actinopterygii	abhd5¹	abhydrolase domain containing 5	65.88(n) 67.16(a)		566493 XM_003200133.1 XP_003200181.1
fruit fly (Drosophila melanogaster)	Insecta	CG1882⁶	--	36(a)	1 → many	2R(3700011-3702250)
worm (Caenorhabditis elegans)	Secernentea	CELE_C25A1.12¹	Protein C25A1.12	50.77(n) 39.32(a)		172888 NM_060284.2 NP_492685.2
thale cress (Arabidopsis thaliana)	eudicotyledons	AT4G24160⁶	hydrolase, alpha/beta fold family protein	25(a)	1 → many	4(12539777-12542489)
rice (Oryza sativa)	Liliopsida	--	hydrolase, alpha/beta fold family domain containin...	26(a)	1 → many	9(20316429-20320654)

ENSEMBL Gene Tree for ABHD5 (if available)
TreeFam Gene Tree for ABHD5 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ABHD5 gene

ABHD4²

1 SIMAP similar gene for ABHD5 using alignment to 9 protein entries: ABHD5_HUMAN (see all proteins):

ABHD4

ABHD5 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28939078^1,2	C	pathogenic	88732978(+)	`GTGGTA/GAGACA`	2	K E	mis¹		0	--	--	--	--
rs28939077^1,2	C	pathogenic	88748185(+)	`GAATCA/CGTTTG`	2	Q P	mis¹		2		NA	4
rs104893675^1,2	C	pathogenic	88751317(+)	`TATATC/GACACC`	2	S *	stg¹		0	--	--	--	--
rs104893676^1,2	C,	pathogenic	88759631(+)	`AGGAGG/AAGGTG`	2	/K /E	mis¹		1		NA	3270
rs188387183^1,2		--	43730445(+)	`TCTGGA/CAAGGC`	1	--	us2k¹		0	--	--	--	--
rs138396666^1,2		--	43730499(+)	`GCATCG/TTACAT`	1	--	us2k¹		0	--	--	--	--
rs149233214^1,2		--	43730583(+)	`CTATTA/GCAAGG`	1	--	us2k¹		0	--	--	--	--
rs7623007^1,2	C,F,A,	--	43730766(+)	`AAAACC/AACCTT`	1	--	us2k¹ tfbs³		8		NA CSA WA EA	368
rs191353653^1,2		--	43730899(+)	`TTTAGG/TTTCTC`	1	--	us2k¹		0	--	--	--	--
rs183653147^1,2		--	43731109(+)	`GACACC/TATTCC`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ABHD5 (43731605 - 43775863 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ABHD5: --
Human Gene Mutation Database (HGMD): ABHD5

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ABHD5 for disorders           About GeneDecksing

OMIM gene information: 604780
OMIM disorders: 275630
UniProtKB/Swiss-Prot: ABHD5_HUMAN, Q8WTS1

Defects in ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS) [MIM:275630]; also called triglyceride

storage disease with impaired long-chain fatty acid oxidation or neutral lipid storage disease with ichthyosis. CDS is

an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although

plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated

leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder

presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling

non-bullous congenital ichthyosiform erythroderma

13 diseases for ABHD5: About MalaCards

neutral lipid storage disease lipid storage disease congenital ichthyosiform erythroderma carnitine deficiency

erythrokeratoderma ichthyosis ectropion twinning

myopathy obesity hepatitis neuronitis

vesiculitis

3 diseases from the University of Copenhagen DISEASES database for ABHD5:

Neutral lipid storage disease Systemic primary carnitine deficiency disease Congenital ichthyosiform erythroderma

2 Novoseek disease relationships for ABHD5 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
neutral lipid storage disease	98	13	14708602 (4), 15127008 (2), 18832586 (2), 20023287 (2) (see all 5)
ichthyosis	91.2	10	14708602 (2), 18832586 (2), 16741516 (1), 20023287 (1) (see all 7)

Human Genome Epidemiology (HuGE) Navigator: ABHD5 (2 documents)

Export disorders for ABHD5 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ABHD5 gene, integrated from 9 sources (see all 39):
(articles sorted by number of sources associating them with ABHD5)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. (PubMed id 11590543)^{1, 2, 3, 9} Lefevre C.... Fischer J. (2001)
CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid. (PubMed id 18606822)^{1, 2, 3} Ghosh A.K....Rajasekharan R. (2008)
CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes. (PubMed id 18832586)^{1, 2, 9} Akiyama M.... Shimizu H. (2008)
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease. (PubMed id 15967942)^{1, 2, 9} Schleinitz N....Pelissier J.F. (2005)
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome. (PubMed id 17495960)^{1, 2} Ben Selma Z....Caux F. (2007)
Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. (PubMed id 16679289)^{1, 2} Lass A....Zechner R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)^{1, 2} Lai C.H....Lin W. (2000)
Neutral lipid storage disease: genetic disorders caus ed by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. (PubMed id 19401457)^{1, 9} Schweiger M....Zechner R. (2009)
Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene. (PubMed id 20307695)^{1, 9} Emre S....Karaduman A. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 51099	HGNC: 21396	AceView: ABHD5	Ensembl:ENSG00000011198	euGenes: HUgn51099
ECgene: ABHD5	H-InvDB: ABHD5

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ABHD5	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABHD5

Intellectual Property for ABHD5 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ABHD5 gene:
Search GeneIP for patents involving ABHD5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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abhydrolase domain containing 5

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ABHD5 Gene

abhydrolase domain containing 5

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