UniProtKB - Q8N2K0 (ABD12_HUMAN)
Protein
Lysophosphatidylserine lipase ABHD12
Gene
ABHD12
Organism
Homo sapiens (Human)
Status
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
Catalytic activityi
- 1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = (9Z)-octadecenoate + H+ + sn-glycero-3-phospho-L-serine2 PublicationsThis reaction proceeds in the forward2 Publications direction.
- a 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + H+ + phosphocholineBy similarity
- This reaction proceeds in the forward2 Publications direction.
- 1-hexadecanoyl-sn-glycero-3-phospho-L-serine + H2O = H+ + hexadecanoate + sn-glycero-3-phospho-L-serine1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H+2 PublicationsThis reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H+3 PublicationsThis reaction proceeds in the forward3 Publications direction.
- This reaction proceeds in the forward2 Publications direction.
- This reaction proceeds in the forward1 Publication direction.
- This reaction proceeds in the forward1 Publication direction.
- 1-octadecanoyl-2-(9,10-epoxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-octadecanoyl-sn-glycero-3-phosphoserine + 9,10-epoxyoctadecanoate + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-octadecanoyl-2-(10-hydroxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-octadecanoyl-sn-glycero-3-phosphoserine + 10-hydroxyoctadecanoate + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- 1-hexadecanoyl-2-(10-hydroxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-hexadecanoyl-sn-glycero-3-phospho-L-serine + 10-hydroxyoctadecanoate + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
- Hydrolyzes glycerol monoesters of long-chain fatty acids.2 Publications EC:3.1.1.23
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
Kineticsi
- KM=117 µM for 2-arachidonoyglycerol1 Publication
- 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 246 | Nucleophile2 Publications | 1 | |
Active sitei | 333 | Charge relay system1 Publication | 1 | |
Active sitei | 372 | Charge relay system1 Publication | 1 |
GO - Molecular functioni
- acylglycerol lipase activity Source: UniProtKB
- lysophospholipase activity Source: UniProtKB
- palmitoyl-(protein) hydrolase activity Source: GO_Central
- phospholipase activity Source: UniProtKB
GO - Biological processi
- acylglycerol catabolic process Source: UniProtKB
- adult walking behavior Source: Ensembl
- glycerophospholipid catabolic process Source: BHF-UCL
- monoacylglycerol catabolic process Source: UniProtKB
- phosphatidylserine catabolic process Source: UniProtKB
- phospholipid catabolic process Source: UniProtKB
- protein depalmitoylation Source: Ensembl
- regulation of inflammatory response Source: Ensembl
- response to auditory stimulus Source: Ensembl
Keywordsi
Molecular function | Hydrolase |
Biological process | Lipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | Q8N2K0 |
Reactomei | R-HSA-426048, Arachidonate production from DAG |
Protein family/group databases
ESTHERi | human-ABHD12, ABHD12-PHARC |
MEROPSi | S09.054 |
Chemistry databases
SwissLipidsi | SLP:000001043 |
Names & Taxonomyi
Protein namesi | Recommended name: Lysophosphatidylserine lipase ABHD12Curated (EC:3.1.-.-1 Publication)Alternative name(s): |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15868, ABHD12 |
MIMi | 613599, gene |
neXtProti | NX_Q8N2K0 |
VEuPathDBi | HostDB:ENSG00000100997.18 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Plasma Membrane
- AMPA glutamate receptor complex Source: Ensembl
- plasma membrane Source: Reactome
Other locations
- dendrite cytoplasm Source: Ensembl
- integral component of membrane Source: UniProtKB
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 74 | CytoplasmicBy similarityAdd BLAST | 74 | |
Transmembranei | 75 – 95 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 96 – 398 | ExtracellularBy similarityAdd BLAST | 303 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)7 Publications
The disease is caused by variants 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081587 | 65 – 398 | Missing in PHARC. 1 PublicationAdd BLAST | 334 | |
Natural variantiVAR_081588 | 159 – 398 | Missing in PHARC; unknown pathological significance. 1 PublicationAdd BLAST | 240 | |
Natural variantiVAR_081589 | 186 | R → P in PHARC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777604EnsemblClinVar. | 1 | |
Natural variantiVAR_081590 | 202 | T → I in PHARC; unknown pathological significance; abolished monoacyglycerol lipase activity. 2 Publications | 1 | |
Natural variantiVAR_081591 | 253 | T → R in PHARC; abolished monoacyglycerol lipase activity. 1 PublicationCorresponds to variant dbSNP:rs772987424Ensembl. | 1 | |
Natural variantiVAR_081592 | 352 – 398 | Missing in PHARC; abolished monoacyglycerol lipase activity. 2 PublicationsAdd BLAST | 47 | |
Natural variantiVAR_081593 | 372 | H → Q in PHARC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777602EnsemblClinVar. | 1 | |
Natural variantiVAR_081594 | 377 – 398 | Missing in PHARC. 1 PublicationAdd BLAST | 22 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 246 | S → A: Loss of lipase activity. 3 Publications | 1 | |
Mutagenesisi | 333 | D → N: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication | 1 | |
Mutagenesisi | 372 | H → A: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication | 1 |
Keywords - Diseasei
Cataract, Deafness, Disease variant, Neuropathy, Retinitis pigmentosaOrganism-specific databases
DisGeNETi | 26090 |
GeneReviewsi | ABHD12 |
MalaCardsi | ABHD12 |
MIMi | 612674, phenotype |
OpenTargetsi | ENSG00000100997 |
Orphaneti | 171848, Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
PharmGKBi | PA25738 |
Miscellaneous databases
Pharosi | Q8N2K0, Tchem |
Chemistry databases
ChEMBLi | CHEMBL5516 |
DrugCentrali | Q8N2K0 |
GuidetoPHARMACOLOGYi | 3070 |
Genetic variation databases
BioMutai | ABHD12 |
DMDMi | 38604894 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079413 | 1 – 398 | Lysophosphatidylserine lipase ABHD12Add BLAST | 398 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 123 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Glycosylated; glycosylation is required for optimal activity.1 Publication
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q8N2K0 |
jPOSTi | Q8N2K0 |
MassIVEi | Q8N2K0 |
MaxQBi | Q8N2K0 |
PaxDbi | Q8N2K0 |
PeptideAtlasi | Q8N2K0 |
PRIDEi | Q8N2K0 |
ProteomicsDBi | 71711 [Q8N2K0-1] 71712 [Q8N2K0-2] 71713 [Q8N2K0-3] |
PTM databases
GlyConnecti | 1517, 3 N-Linked glycans (1 site) |
GlyGeni | Q8N2K0, 1 site |
iPTMneti | Q8N2K0 |
PhosphoSitePlusi | Q8N2K0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100997, Expressed in C1 segment of cervical spinal cord and 217 other tissues |
ExpressionAtlasi | Q8N2K0, baseline and differential |
Genevisiblei | Q8N2K0, HS |
Organism-specific databases
HPAi | ENSG00000100997, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 117541, 24 interactors |
IntActi | Q8N2K0, 23 interactors |
MINTi | Q8N2K0 |
STRINGi | 9606.ENSP00000365725 |
Chemistry databases
BindingDBi | Q8N2K0 |
Miscellaneous databases
RNActi | Q8N2K0, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 20 – 25 | Poly-Ser | 6 | |
Compositional biasi | 26 – 29 | Poly-Ala | 4 |
Sequence similaritiesi
Belongs to the serine esterase family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1552, Eukaryota |
GeneTreei | ENSGT00940000160517 |
HOGENOMi | CLU_029375_1_0_1 |
InParanoidi | Q8N2K0 |
OMAi | GKDQLWF |
OrthoDBi | 691954at2759 |
PhylomeDBi | Q8N2K0 |
TreeFami | TF315122 |
Family and domain databases
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR026605, ABHD12 IPR022742, Hydrolase_4 |
PANTHERi | PTHR12277:SF61, PTHR12277:SF61, 1 hit |
Pfami | View protein in Pfam PF12146, Hydrolase_4, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 20 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 20 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ5T712 | Q5T712_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 187 | Annotation score: | ||
A0A5F9ZGZ9 | A0A5F9ZGZ9_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 153 | Annotation score: | ||
I3L294 | I3L294_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 159 | Annotation score: | ||
I3L1V0 | I3L1V0_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 194 | Annotation score: | ||
I3L440 | I3L440_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 105 | Annotation score: | ||
I3L206 | I3L206_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 216 | Annotation score: | ||
A0A5F9ZH71 | A0A5F9ZH71_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 241 | Annotation score: | ||
A0A5F9ZGT4 | A0A5F9ZGT4_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 250 | Annotation score: | ||
A0A5F9ZHF0 | A0A5F9ZHF0_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 151 | Annotation score: | ||
A0A5F9ZHG5 | A0A5F9ZHG5_HUMAN | 2-arachidonoylglycerol hydrolase AB... | ABHD12 | 120 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 359 | V → I in BAF83504 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 376 | Y → C in BAC11357 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081587 | 65 – 398 | Missing in PHARC. 1 PublicationAdd BLAST | 334 | |
Natural variantiVAR_081588 | 159 – 398 | Missing in PHARC; unknown pathological significance. 1 PublicationAdd BLAST | 240 | |
Natural variantiVAR_081589 | 186 | R → P in PHARC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777604EnsemblClinVar. | 1 | |
Natural variantiVAR_081590 | 202 | T → I in PHARC; unknown pathological significance; abolished monoacyglycerol lipase activity. 2 Publications | 1 | |
Natural variantiVAR_081591 | 253 | T → R in PHARC; abolished monoacyglycerol lipase activity. 1 PublicationCorresponds to variant dbSNP:rs772987424Ensembl. | 1 | |
Natural variantiVAR_050630 | 349 | A → T. Corresponds to variant dbSNP:rs746748EnsemblClinVar. | 1 | |
Natural variantiVAR_081592 | 352 – 398 | Missing in PHARC; abolished monoacyglycerol lipase activity. 2 PublicationsAdd BLAST | 47 | |
Natural variantiVAR_081593 | 372 | H → Q in PHARC; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587777602EnsemblClinVar. | 1 | |
Natural variantiVAR_081594 | 377 – 398 | Missing in PHARC. 1 PublicationAdd BLAST | 22 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_037372 | 11 – 48 | Missing in isoform 3. 1 PublicationAdd BLAST | 38 | |
Alternative sequenceiVSP_009097 | 387 – 398 | EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2. 1 PublicationAdd BLAST | 12 |
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 |
CCDSi | CCDS13172.1 [Q8N2K0-2] CCDS42857.1 [Q8N2K0-1] |
PIRi | T17237 |
RefSeqi | NP_001035937.1, NM_001042472.2 [Q8N2K0-1] NP_056415.1, NM_015600.4 [Q8N2K0-2] |
Genome annotation databases
Ensembli | ENST00000339157; ENSP00000341408; ENSG00000100997 [Q8N2K0-1] ENST00000376542; ENSP00000365725; ENSG00000100997 [Q8N2K0-2] |
GeneIDi | 26090 |
KEGGi | hsa:26090 |
UCSCi | uc002wuq.4, human [Q8N2K0-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS13172.1 [Q8N2K0-2] CCDS42857.1 [Q8N2K0-1] |
PIRi | T17237 |
RefSeqi | NP_001035937.1, NM_001042472.2 [Q8N2K0-1] NP_056415.1, NM_015600.4 [Q8N2K0-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117541, 24 interactors |
IntActi | Q8N2K0, 23 interactors |
MINTi | Q8N2K0 |
STRINGi | 9606.ENSP00000365725 |
Chemistry databases
BindingDBi | Q8N2K0 |
ChEMBLi | CHEMBL5516 |
DrugCentrali | Q8N2K0 |
GuidetoPHARMACOLOGYi | 3070 |
SwissLipidsi | SLP:000001043 |
Protein family/group databases
ESTHERi | human-ABHD12, ABHD12-PHARC |
MEROPSi | S09.054 |
PTM databases
GlyConnecti | 1517, 3 N-Linked glycans (1 site) |
GlyGeni | Q8N2K0, 1 site |
iPTMneti | Q8N2K0 |
PhosphoSitePlusi | Q8N2K0 |
Genetic variation databases
BioMutai | ABHD12 |
DMDMi | 38604894 |
Proteomic databases
EPDi | Q8N2K0 |
jPOSTi | Q8N2K0 |
MassIVEi | Q8N2K0 |
MaxQBi | Q8N2K0 |
PaxDbi | Q8N2K0 |
PeptideAtlasi | Q8N2K0 |
PRIDEi | Q8N2K0 |
ProteomicsDBi | 71711 [Q8N2K0-1] 71712 [Q8N2K0-2] 71713 [Q8N2K0-3] |
Protocols and materials databases
Antibodypediai | 10033, 172 antibodies |
DNASUi | 26090 |
Genome annotation databases
Ensembli | ENST00000339157; ENSP00000341408; ENSG00000100997 [Q8N2K0-1] ENST00000376542; ENSP00000365725; ENSG00000100997 [Q8N2K0-2] |
GeneIDi | 26090 |
KEGGi | hsa:26090 |
UCSCi | uc002wuq.4, human [Q8N2K0-1] |
Organism-specific databases
CTDi | 26090 |
DisGeNETi | 26090 |
GeneCardsi | ABHD12 |
GeneReviewsi | ABHD12 |
HGNCi | HGNC:15868, ABHD12 |
HPAi | ENSG00000100997, Low tissue specificity |
MalaCardsi | ABHD12 |
MIMi | 612674, phenotype 613599, gene |
neXtProti | NX_Q8N2K0 |
OpenTargetsi | ENSG00000100997 |
Orphaneti | 171848, Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome |
PharmGKBi | PA25738 |
VEuPathDBi | HostDB:ENSG00000100997.18 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1552, Eukaryota |
GeneTreei | ENSGT00940000160517 |
HOGENOMi | CLU_029375_1_0_1 |
InParanoidi | Q8N2K0 |
OMAi | GKDQLWF |
OrthoDBi | 691954at2759 |
PhylomeDBi | Q8N2K0 |
TreeFami | TF315122 |
Enzyme and pathway databases
PathwayCommonsi | Q8N2K0 |
Reactomei | R-HSA-426048, Arachidonate production from DAG |
Miscellaneous databases
BioGRID-ORCSi | 26090, 11 hits in 878 CRISPR screens |
ChiTaRSi | ABHD12, human |
GenomeRNAii | 26090 |
Pharosi | Q8N2K0, Tchem |
PROi | PR:Q8N2K0 |
RNActi | Q8N2K0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100997, Expressed in C1 segment of cervical spinal cord and 217 other tissues |
ExpressionAtlasi | Q8N2K0, baseline and differential |
Genevisiblei | Q8N2K0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR026605, ABHD12 IPR022742, Hydrolase_4 |
PANTHERi | PTHR12277:SF61, PTHR12277:SF61, 1 hit |
Pfami | View protein in Pfam PF12146, Hydrolase_4, 1 hit |
SUPFAMi | SSF53474, SSF53474, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABD12_HUMAN | |
Accessioni | Q8N2K0Primary (citable) accession number: Q8N2K0 Secondary accession number(s): A6NED4 Q9UFV6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 28, 2003 |
Last sequence update: | November 28, 2003 | |
Last modified: | February 10, 2021 | |
This is version 160 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 20
Human chromosome 20: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families