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ABHD5
HPA
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  • ABHD5
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

ABHD5
Synonyms CGI-58, NCIE2
Gene descriptioni

Full gene name according to HGNC.

Abhydrolase domain containing 5, lysophosphatidic acid acyltransferase
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 3
Cytoband p21.33
Chromosome location (bp) 43690108 - 43734371
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

7
Ensembl ENSG00000011198 (version 109)
Entrez gene 51099
HGNC HGNC:21396
UniProt Q8WTS1 (UniProt - Evidence at protein level)
neXtProt NX_Q8WTS1
GeneCards ABHD5
Antibodypedia ABHD5 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Coenzyme A-dependent lysophosphatidic acid acyltransferase that catalyzes the transfer of an acyl group on a lysophosphatidic acid 1. Functions preferentially with 1-oleoyl-lysophosphatidic acid followed by 1-palmitoyl-lysophosphatidic acid, 1-stearoyl-lysophosphatidic acid and 1-arachidonoyl-lysophosphatidic acid as lipid acceptor. Functions preferentially with arachidonoyl-CoA followed by oleoyl-CoA as acyl group donors (By similarity). Functions in phosphatidic acid biosynthesis 2. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 3. Involved in keratinocyte differentiation 4. Regulates lipid droplet fusion (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Acyltransferase, Transferase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Differentiation, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
ABHD5-202
ENSP00000392159
ENST00000413300
H7BZY9
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
155 aa
18 kDa
No 0
ABHD5-203
ENSP00000412014
ENST00000454293
C9J1D1
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
308 aa
34.5 kDa
No 0
ABHD5-204
ENSP00000391582
ENST00000456453
C9JBM3
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006508 [proteolysis]
GO:0008233 [peptidase activity]
Show all
126 aa
14.1 kDa
No 0
ABHD5-205
ENSP00000390849
ENST00000458276
A0A2U3TZT9
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005654 [nucleoplasm]
GO:0005829 [cytosol]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
278 aa
31.5 kDa
No 0
ABHD5-206
ENSP00000495570
ENST00000463153
A0A2R8YG22
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
92 aa
10.1 kDa
No 0
ABHD5-208
ENSP00000494478
ENST00000642351
C9J1D1
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Protein evidence (Ezkurdia et al 2014)
Show all
308 aa
34.5 kDa
No 0
ABHD5-213
ENSP00000495778
ENST00000644371
Q8WTS1
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase ABHD5
Show all
A0A0S2Z5D6
[Target identity:100%; Query identity:100%] Abhydrolase domain containing 5 isoform 1
Show all
Enzymes
   ENZYME proteins
   Transferases
   Peptidases
   Serine-type peptidases
Metabolic proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Potential drug targets
Human disease related genes
   Congenital disorders of metabolism
   Congenital disorders of lipid/glycolipid metabolism
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity]
GO:0005515 [protein binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005811 [lipid droplet]
GO:0005829 [cytosol]
GO:0006629 [lipid metabolic process]
GO:0006631 [fatty acid metabolic process]
GO:0006654 [phosphatidic acid biosynthetic process]
GO:0008654 [phospholipid biosynthetic process]
GO:0010891 [negative regulation of sequestering of triglyceride]
GO:0010898 [positive regulation of triglyceride catabolic process]
GO:0016740 [transferase activity]
GO:0016746 [acyltransferase activity]
GO:0016787 [hydrolase activity]
GO:0030154 [cell differentiation]
GO:0042171 [lysophosphatidic acid acyltransferase activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0050996 [positive regulation of lipid catabolic process]
GO:0051006 [positive regulation of lipoprotein lipase activity]
GO:0055088 [lipid homeostasis]
Show all
349 aa
39.1 kDa
No 0

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