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ABHD12
HPA
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  • ABHD12
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.

ABHD12
Synonyms ABHD12A, BEM46L2, C20orf22, dJ965G21.2, DKFZP434P106
Gene descriptioni

Full gene name according to HGNC.

Abhydrolase domain containing 12, lysophospholipase
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.

Membrane, 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 20
Cytoband p11.21
Chromosome location (bp) 25294742 - 25390835
Number of transcriptsi

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

17
Ensembl ENSG00000100997 (version 109)
Entrez gene 26090
HGNC HGNC:15868
UniProt Q8N2K0 (UniProt - Evidence at protein level)
neXtProt NX_Q8N2K0
GeneCards ABHD12
Antibodypedia ABHD12 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes 1, 2, 3, 4, 5. Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal 6. Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways 7, 8. Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding 9.... show less
Molecular function (UniProt)i

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

Hydrolase
Biological process (UniProt)i

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

Lipid metabolism
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]... 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)
ABHD12-201
ENSP00000341408
ENST00000339157
Q8N2K0
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0002084 [protein depalmitoylation]
GO:0004620 [phospholipase activity]
GO:0004622 [lysophospholipase activity]
GO:0005737 [cytoplasm]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0006629 [lipid metabolic process]
GO:0006660 [phosphatidylserine catabolic process]
GO:0007628 [adult walking behavior]
GO:0008474 [palmitoyl-(protein) hydrolase activity]
GO:0009395 [phospholipid catabolic process]
GO:0010996 [response to auditory stimulus]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0019369 [arachidonic acid metabolic process]
GO:0032281 [AMPA glutamate receptor complex]
GO:0032839 [dendrite cytoplasm]
GO:0046464 [acylglycerol catabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0047372 [acylglycerol lipase activity]
GO:0050727 [regulation of inflammatory response]
GO:0052651 [monoacylglycerol catabolic process]
Show all
398 aa
45.1 kDa
No 2
ABHD12-202
ENSP00000365725
ENST00000376542
Q8N2K0
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Enzymes
   ENZYME proteins
   Hydrolases
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Disease related genes
Potential drug targets
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0004620 [phospholipase activity]
GO:0004622 [lysophospholipase activity]
GO:0005783 [endoplasmic reticulum]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005886 [plasma membrane]
GO:0006629 [lipid metabolic process]
GO:0006660 [phosphatidylserine catabolic process]
GO:0008474 [palmitoyl-(protein) hydrolase activity]
GO:0009395 [phospholipid catabolic process]
GO:0016020 [membrane]
GO:0016787 [hydrolase activity]
GO:0019369 [arachidonic acid metabolic process]
GO:0046464 [acylglycerol catabolic process]
GO:0046475 [glycerophospholipid catabolic process]
GO:0047372 [acylglycerol lipase activity]
GO:0052651 [monoacylglycerol catabolic process]
Show all
404 aa
45.6 kDa
No 2
ABHD12-203
ENSP00000413311
ENST00000450393
Q5T712
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
187 aa
21.2 kDa
No 1
ABHD12-206
ENSP00000460950
ENST00000471287
I3L440
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
105 aa
11.8 kDa
No 0
ABHD12-208
ENSP00000459495
ENST00000491682
I3L294
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
159 aa
18 kDa
No 0
ABHD12-209
ENSP00000459121
ENST00000576316
I3L1V0
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
   DeepTMHMM predicted membrane proteins
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
194 aa
21 kDa
No 0
ABHD12-210
ENSP00000500451
ENST00000671784
A0A5F9ZHM3
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
176 aa
19.8 kDa
No 0
ABHD12-211
ENSP00000500550
ENST00000671858
A0A5F9ZHQ8
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
295 aa
33.2 kDa
No 0
ABHD12-213
ENSP00000499945
ENST00000672114
A0A5F9ZH28
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
169 aa
19 kDa
No 0
ABHD12-214
ENSP00000499868
ENST00000672258
A0A5F9ZGW7
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
179 aa
20.2 kDa
No 0
ABHD12-216
ENSP00000500062
ENST00000672358
A0A5F9ZH49
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
228 aa
25.9 kDa
No 0
ABHD12-218
ENSP00000500106
ENST00000672566
A0A5F9ZH71
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
241 aa
27.6 kDa
No 0
ABHD12-219
ENSP00000500290
ENST00000672596
A0A5F9ZHH2
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
227 aa
25.9 kDa
No 0
ABHD12-220
ENSP00000499949
ENST00000672871
A0A5F9ZGZ9
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
153 aa
17.3 kDa
No 0
ABHD12-221
ENSP00000500257
ENST00000673094
A0A5F9ZHF0
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
151 aa
17.2 kDa
No 0
ABHD12-222
ENSP00000499839
ENST00000673121
A0A5F9ZGT4
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
250 aa
28.5 kDa
No 0
ABHD12-223
ENSP00000500514
ENST00000673227
A0A5F9ZHQ0
[Direct mapping] Lysophosphatidylserine lipase ABHD12
Show all
Metabolic proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Nervous system diseases
   Neurodegenerative diseases
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004622 [lysophospholipase activity]
GO:0005789 [endoplasmic reticulum membrane]
GO:0016020 [membrane]
GO:0047372 [acylglycerol lipase activity]
Show all
210 aa
24 kDa
No 0

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