Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q8N2K0 (ABD12_HUMAN)

Entry version 149 (03 Jul 2019)
Sequence version 2 (28 Nov 2003)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

Lysophosphatidylserine lipase ABHD12

Gene

ABHD12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). 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 (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167).By similarity7 Publications

Caution

A family suffering from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) was initially clinically diagnosed with Usher syndrome type 3 (PubMed:22938382). Reexamination of one affected member of this family revealed ataxia but not polyneuropathy, demonstrating the phenotypic heterogeneity in PHARC and the need for careful neurological assessments to distinguish this disease from other neuropathic disorders (PubMed:22938382).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Selectively inhibited by DO264 (N-3-pyridyl-N'-(1-[3-chloro-4-{2-chloro-4-(trifluoromethoxy)phenoxy}pyridine-2-yl]piperidin-4-yl)thiourea) (PubMed:30420694, PubMed:30720278). Reversibly inhibited by triterpenoids, but with rather low potency (PubMed:24879289).3 Publications

<p>This subsection of the ‘Function’ section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=117 µM for 2-arachidonoyglycerol1 Publication
  1. Vmax=42 nmol/min/mg enzyme toward 2-arachidonoyglycerol1 Publication

pH dependencei

Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei246Nucleophile2 Publications1
Active sitei333Charge relay system1 Publication1
Active sitei372Charge relay system1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processLipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-426048 Arachidonate production from DAG

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...ESTHERi		human-ABHD12 ABHD12-PHARC

MEROPS protease database

More...MEROPSi		S09.054

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000001043

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysophosphatidylserine lipase ABHD12Curated (EC:3.1.-.-1 Publication)
Alternative name(s):
2-arachidonoylglycerol hydrolase ABHD12Curated
Abhydrolase domain-containing protein 12Curated
Short name:
hABHD122 Publications
Monoacylglycerol lipase ABHD12Curated (EC:3.1.1.232 Publications)
Oxidized phosphatidylserine lipase ABHD12Curated (EC:3.1.-.-1 Publication)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABHD121 PublicationImported
Synonyms:C20orf22Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15868 ABHD12

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613599 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8N2K0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 74CytoplasmicBy similarityAdd BLAST74
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei75 – 95HelicalBy similarityAdd BLAST21
Topological domaini96 – 398ExtracellularBy similarityAdd BLAST303

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08158765 – 398Missing in PHARC. 1 PublicationAdd BLAST334
Natural variantiVAR_081588159 – 398Missing in PHARC; unknown pathological significance. 1 PublicationAdd BLAST240
Natural variantiVAR_081589186R → P in PHARC; unknown pathological significance. 1 Publication1
Natural variantiVAR_081590202T → I in PHARC; unknown pathological significance; abolished monoacyglycerol lipase activity. 2 Publications1
Natural variantiVAR_081591253T → R in PHARC; abolished monoacyglycerol lipase activity. 1 Publication1
Natural variantiVAR_081592352 – 398Missing in PHARC; abolished monoacyglycerol lipase activity. 2 PublicationsAdd BLAST47
Natural variantiVAR_081593372H → Q in PHARC; unknown pathological significance. 1 Publication1
Natural variantiVAR_081594377 – 398Missing in PHARC. 1 PublicationAdd BLAST22

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi246S → A: Loss of lipase activity. 3 Publications1
Mutagenesisi333D → N: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication1
Mutagenesisi372H → A: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication1

Keywords - Diseasei

Cataract, Deafness, Disease mutation, Neuropathy, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		26090

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ABHD12

MalaCards human disease database

More...MalaCardsi		ABHD12
MIMi612674 phenotype

Open Targets

More...OpenTargetsi		ENSG00000100997

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25738

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5516

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		3070

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ABHD12

Domain mapping of disease mutations (DMDM)

More...DMDMi		38604894

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000794131 – 398Lysophosphatidylserine lipase ABHD12Add BLAST398

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated; glycosylation is required for optimal activity.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8N2K0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8N2K0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8N2K0

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8N2K0

PeptideAtlas

More...PeptideAtlasi		Q8N2K0

PRoteomics IDEntifications database

More...PRIDEi		Q8N2K0

ProteomicsDB human proteome resource

More...ProteomicsDBi		71711
71712 [Q8N2K0-2]
71713 [Q8N2K0-3]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1517

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8N2K0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8N2K0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100997 Expressed in 203 organ(s), highest expression level in C1 segment of cervical spinal cord

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8N2K0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8N2K0 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA026866

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117541, 9 interactors

Protein interaction database and analysis system

More...IntActi		Q8N2K0, 17 interactors

Molecular INTeraction database

More...MINTi		Q8N2K0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000365725

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q8N2K0

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi20 – 25Poly-Ser6
Compositional biasi26 – 29Poly-Ala4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the serine esterase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1552 Eukaryota
COG1073 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160517

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8N2K0

KEGG Orthology (KO)

More...KOi		K13704

Identification of Orthologs from Complete Genome Data

More...OMAi		WGPVEFH

Database of Orthologous Groups

More...OrthoDBi		691954at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8N2K0

TreeFam database of animal gene trees

More...TreeFami		TF315122

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029058 AB_hydrolase
IPR026605 ABHD12
IPR022742 Hydrolase_4

The PANTHER Classification System

More...PANTHERi		PTHR12277:SF61 PTHR12277:SF61, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12146 Hydrolase_4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53474 SSF53474, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N2K0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP 
        60         70         80         90        100
RCAADAGMKR ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL 
       110        120        130        140        150
IFLNFVRVPY FIDLKKPQDQ GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK 
       160        170        180        190        200
NAQGKDQMWY EDALASSHPI ILYLHGNAGT RGGDHRVELY KVLSSLGYHV 
       210        220        230        240        250
VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV YIWGHSLGTG 
       260        270        280        290        300
VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF 
       310        320        330        340        350
FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP 
       360        370        380        390 
ARSFRDFKVQ FVPFHSDLGY RHKYIYKSPE LPRILREFLG KSEPEHQH
Length:398
Mass (Da):45,097
Last modified:November 28, 2003 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE21425C1412B5607
GO
Isoform 2 (identifier: Q8N2K0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     387-398: EFLGKSEPEHQH → PQQGPGSSPDPSMWSELV

Show »
Length:404
Mass (Da):45,558
Checksum:i9BB2A5E05E8BA15F
GO
Isoform 3 (identifier: Q8N2K0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     11-48: Missing.

Show »
Length:360
Mass (Da):41,387
Checksum:i0F9E42F1D556B0E6
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T712Q5T712_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L380I3L380_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
118Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L440I3L440_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L294I3L294_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1V0I3L1V0_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L206I3L206_HUMAN
Lysophosphatidylserine lipase ABHD1...
ABHD12
13Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti359V → I in BAF83504 (PubMed:14702039).Curated1
Sequence conflicti376Y → C in BAC11357 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08158765 – 398Missing in PHARC. 1 PublicationAdd BLAST334
Natural variantiVAR_081588159 – 398Missing in PHARC; unknown pathological significance. 1 PublicationAdd BLAST240
Natural variantiVAR_081589186R → P in PHARC; unknown pathological significance. 1 Publication1
Natural variantiVAR_081590202T → I in PHARC; unknown pathological significance; abolished monoacyglycerol lipase activity. 2 Publications1
Natural variantiVAR_081591253T → R in PHARC; abolished monoacyglycerol lipase activity. 1 Publication1
Natural variantiVAR_050630349A → T. Corresponds to variant dbSNP:rs746748EnsemblClinVar.1
Natural variantiVAR_081592352 – 398Missing in PHARC; abolished monoacyglycerol lipase activity. 2 PublicationsAdd BLAST47
Natural variantiVAR_081593372H → Q in PHARC; unknown pathological significance. 1 Publication1
Natural variantiVAR_081594377 – 398Missing in PHARC. 1 PublicationAdd BLAST22

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_03737211 – 48Missing in isoform 3. 1 PublicationAdd BLAST38
Alternative sequenceiVSP_009097387 – 398EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK075023 mRNA Translation: BAC11357.1
AK290815 mRNA Translation: BAF83504.1
AK293495 mRNA Translation: BAG56982.1
AL121772 Genomic DNA No translation available.
AL353812 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10089.1
BC014049 mRNA Translation: AAH14049.1
AL117442 mRNA Translation: CAB55927.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13172.1 [Q8N2K0-2]
CCDS42857.1 [Q8N2K0-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T17237

NCBI Reference Sequences

More...RefSeqi		NP_001035937.1, NM_001042472.2 [Q8N2K0-1]
NP_056415.1, NM_015600.4 [Q8N2K0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000339157; ENSP00000341408; ENSG00000100997 [Q8N2K0-1]
ENST00000376542; ENSP00000365725; ENSG00000100997 [Q8N2K0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26090

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26090

UCSC genome browser

More...UCSCi		uc002wuq.4 human [Q8N2K0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK075023 mRNA Translation: BAC11357.1
AK290815 mRNA Translation: BAF83504.1
AK293495 mRNA Translation: BAG56982.1
AL121772 Genomic DNA No translation available.
AL353812 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10089.1
BC014049 mRNA Translation: AAH14049.1
AL117442 mRNA Translation: CAB55927.1
CCDSiCCDS13172.1 [Q8N2K0-2]
CCDS42857.1 [Q8N2K0-1]
PIRiT17237
RefSeqiNP_001035937.1, NM_001042472.2 [Q8N2K0-1]
NP_056415.1, NM_015600.4 [Q8N2K0-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi117541, 9 interactors
IntActiQ8N2K0, 17 interactors
MINTiQ8N2K0
STRINGi9606.ENSP00000365725

Chemistry databases

BindingDBiQ8N2K0
ChEMBLiCHEMBL5516
GuidetoPHARMACOLOGYi3070
SwissLipidsiSLP:000001043

Protein family/group databases

ESTHERihuman-ABHD12 ABHD12-PHARC
MEROPSiS09.054

PTM databases

GlyConnecti1517
iPTMnetiQ8N2K0
PhosphoSitePlusiQ8N2K0

Polymorphism and mutation databases

BioMutaiABHD12
DMDMi38604894

Proteomic databases

EPDiQ8N2K0
jPOSTiQ8N2K0
MaxQBiQ8N2K0
PaxDbiQ8N2K0
PeptideAtlasiQ8N2K0
PRIDEiQ8N2K0
ProteomicsDBi71711
71712 [Q8N2K0-2]
71713 [Q8N2K0-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26090
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339157; ENSP00000341408; ENSG00000100997 [Q8N2K0-1]
ENST00000376542; ENSP00000365725; ENSG00000100997 [Q8N2K0-2]
GeneIDi26090
KEGGihsa:26090
UCSCiuc002wuq.4 human [Q8N2K0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26090
DisGeNETi26090

GeneCards: human genes, protein and diseases

More...GeneCardsi		ABHD12
GeneReviewsiABHD12
HGNCiHGNC:15868 ABHD12
HPAiHPA026866
MalaCardsiABHD12
MIMi612674 phenotype
613599 gene
neXtProtiNX_Q8N2K0
OpenTargetsiENSG00000100997
Orphaneti171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
PharmGKBiPA25738

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1552 Eukaryota
COG1073 LUCA
GeneTreeiENSGT00940000160517
InParanoidiQ8N2K0
KOiK13704
OMAiWGPVEFH
OrthoDBi691954at2759
PhylomeDBiQ8N2K0
TreeFamiTF315122

Enzyme and pathway databases

ReactomeiR-HSA-426048 Arachidonate production from DAG

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ABHD12 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26090

Protein Ontology

More...PROi		PR:Q8N2K0

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100997 Expressed in 203 organ(s), highest expression level in C1 segment of cervical spinal cord
ExpressionAtlasiQ8N2K0 baseline and differential
GenevisibleiQ8N2K0 HS

Family and domain databases

InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR026605 ABHD12
IPR022742 Hydrolase_4
PANTHERiPTHR12277:SF61 PTHR12277:SF61, 1 hit
PfamiView protein in Pfam
PF12146 Hydrolase_4, 1 hit
SUPFAMiSSF53474 SSF53474, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiABD12_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8N2K0
Secondary accession number(s): A6NED4
, A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: November 28, 2003
Last modified: July 3, 2019
This is version 149 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again