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UniProtKB - Q8N2K0 (ABD12_HUMAN)

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Protein

Monoacylglycerol lipase ABHD12

Gene

ABHD12

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2-arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways.By similarity2 Publications

Caution

A family suffering from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) was initially clinically diagnosed with Usher syndrome type 3. 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

Hydrolyzes glycerol monoesters of long-chain fatty acids.1 Publication

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
Active sitei246Nucleophile1 Publication1
Active sitei333Charge relay system1 Publication1
Active sitei372Charge relay system1 Publication1

GO - Molecular functioni

  • acylglycerol lipase activity Source: UniProtKB
  • lysophospholipase activity Source: BHF-UCL
  • palmitoyl-(protein) hydrolase activity Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • acylglycerol catabolic process Source: UniProtKB
  • adult walking behavior Source: Ensembl
  • glycerophospholipid catabolic process Source: BHF-UCL
  • monoacylglycerol catabolic process Source: BHF-UCL
  • phosphatidylserine catabolic process Source: Ensembl
  • protein depalmitoylation Source: Ensembl
  • response to auditory stimulus Source: Ensembl
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

ReactomeiR-HSA-426048 Arachidonate production from DAG

Protein family/group databases

ESTHERihuman-ABHD12 ABHD12-PHARC
MEROPSiS09.054

Chemistry databases

SwissLipidsiSLP:000001043

Names & Taxonomyi

Protein namesi
Recommended name:
Monoacylglycerol lipase ABHD12Curated (EC:3.1.1.231 Publication)
Alternative name(s):
2-arachidonoylglycerol hydrolaseCurated
Abhydrolase domain-containing protein 12Curated
Gene namesi
Name:ABHD12Imported
Synonyms:C20orf22Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000100997.18
HGNCiHGNC:15868 ABHD12
MIMi613599 gene
neXtProtiNX_Q8N2K0

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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 74CytoplasmicBy similarityAdd BLAST74
Transmembranei75 – 95HelicalBy similarityAdd BLAST21
Topological domaini96 – 398ExtracellularBy similarityAdd BLAST303

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)3 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.
See also OMIM:612674

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi246S → A: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication1
Mutagenesisi333D → N: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication1
Mutagenesisi372H → A: Loss of 2-arachidonoyglycerol hydrolase activity. 1 Publication1

Keywords - Diseasei

Cataract, Deafness, Neuropathy, Retinitis pigmentosa

Organism-specific databases

DisGeNETi26090
MalaCardsiABHD12
MIMi612674 phenotype
OpenTargetsiENSG00000100997
Orphaneti171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract
PharmGKBiPA25738

Chemistry databases

ChEMBLiCHEMBL5516

Polymorphism and mutation databases

BioMutaiABHD12
DMDMi38604894

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794131 – 398Monoacylglycerol lipase ABHD12Add BLAST398

Post-translational modificationi

Glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

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

PTM databases

iPTMnetiQ8N2K0
PhosphoSitePlusiQ8N2K0

Expressioni

Gene expression databases

BgeeiENSG00000100997
CleanExiHS_ABHD12
ExpressionAtlasiQ8N2K0 baseline and differential
GenevisibleiQ8N2K0 HS

Organism-specific databases

HPAiHPA026866

Interactioni

Protein-protein interaction databases

BioGridi117541, 8 interactors
IntActiQ8N2K0, 15 interactors
MINTiQ8N2K0
STRINGi9606.ENSP00000365725

Chemistry databases

BindingDBiQ8N2K0

Structurei

3D structure databases

ProteinModelPortaliQ8N2K0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi20 – 25Poly-Ser6
Compositional biasi26 – 29Poly-Ala4

Sequence similaritiesi

Belongs to the serine esterase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1552 Eukaryota
COG1073 LUCA
GeneTreeiENSGT00390000006625
HOVERGENiHBG051152
InParanoidiQ8N2K0
KOiK13704
OMAiWGPVEFH
OrthoDBiEOG091G0QYO
PhylomeDBiQ8N2K0
TreeFamiTF315122

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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

This isoform has been chosen as the 'canonical' 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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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_050630349A → T. Corresponds to variant dbSNP:rs746748EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.441550

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiABD12_HUMAN
AccessioniPrimary (citable) accession number: Q8N2K0
Secondary accession number(s): A6NED4
, A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: November 28, 2003
Last modified: June 20, 2018
This is version 140 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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