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Protein basic information

LiverAtlas Protein ID

HuLPr03636

Uniprot ID

ABD12_HUMAN

Uniprot Acc

Q8N2K0;A6NED4;A6NJ90;A8K450;B4DE71;Q5T710;Q5T711;Q96CR1;Q9BX05;Q9NPX7;Q9UFV6;

Protein name

Monoacylglycerol lipase ABHD12

Comment

FUNCTION:Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid signaling pathways (By similarity).||CATALYTIC ACTIVITY:Hydrolyzes glycerol monoesters of long-chain fatty acids.||SUBCELLULAR LOCATION:Membrane; Single-pass membrane protein (By similarity).||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N2K0-1; Sequence=Displayed; Name=2; IsoId=Q8N2K0-2; Sequence=VSP 009097; Name=3; IsoId=Q8N2K0-3; Sequence=VSP 037372;||PTM:Glycosylated (By similarity).||DISEASE:Defects in ABHD12 are the cause of polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract (PHARC) [MIM:612674]. PHARC is a 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 neuropath

Subcellular localization

Membrane;Single-pass membrane protein(By similarity).

Gene name

abhydrolase domain containing 12

Protein sequence

MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNL RLTGPAAAEPRCAADAGMKRALGRRKGVWLRLRKILFCV LGLYIAIPFLIKLCPGIQAKLIFLNFVRVPYFIDLKKPQ DQGLNHTCNYYLQPEEDVTIGVWHTVPAVWWKNAQGKDQ MWYEDALASSHPIILYLHGNAGTRGGDHRVELYKVLSSL GYHVVTFDYRGWGDSVGTPSERGMTYDALHVFDWIKARS GDNPVYIWGHSLGTGVATNLVRRLCERETPPDALILESP FTNIREEAKSHPFSVIYRYFPGFDWFFLDPITSSGIKFA NDENVKHISCPLLILHAEDDPVVPFQLGRKLYSIAAPAR SFRDFKVQFVPFHSDLGYRHKYIYKSPELPRILREFLGKSEPEHQH

Database cross reference

RefSeq Protein accession:NP_001035937
RefSeq Protein gi:109689718

Liver relevance

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;

Ontology annotation

GO-C

GO:0016021;C:integral to membrane;IEA:UniProtKB-KW.

GO-F

GO:0047372;F:acylglycerol lipase activity;IEA:EC.

GO-P

GO:0050896;P:response to stimulus;IEA:UniProtKB-KW. GO:0007601;P:visual perception;IEA:UniProtKB-KW.