Reviewed,
UniProtKB/Swiss-Prot Q8N2K0 (ABD12_HUMAN)
Last modified
November 24, 2009.
Version 65.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Monoacylglycerol lipase ABHD12 EC=3.1.1.23 Alternative name(s): 2-arachidonoylglycerol hydrolase Abhydrolase domain-containing protein 12 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 398 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| 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. |
| Post-translational modification | Glycosylated By similarity. |
| Sequence similarities | Belongs to the serine esterase family. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Transmembrane |
| Molecular function | Hydrolase |
| PTM | Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | acylglycerol lipase activity Inferred from electronic annotation. Source: EC |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8N2K0-1) 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. | ||||||
| Isoform 2 (identifier: Q8N2K0-2) The sequence of this isoform differs from the canonical sequence as follows: 387-398: EFLGKSEPEHQH → PQQGPGSSPDPSMWSELV | ||||||
| Isoform 3 (identifier: Q8N2K0-3) The sequence of this isoform differs from the canonical sequence as follows: 11-48: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 398 | 398 | Monoacylglycerol lipase ABHD12 | PRO_0000079413 | |||||
Regions | |||||||||
| Topological domain | 1 – 74 | 74 | Cytoplasmic Potential | ||||||
| Transmembrane | 75 – 95 | 21 | Potential | ||||||
| Topological domain | 96 – 398 | 303 | Extracellular Potential | ||||||
| Compositional bias | 20 – 25 | 6 | Poly-Ser | ||||||
| Compositional bias | 26 – 29 | 4 | Poly-Ala | ||||||
Sites | |||||||||
| Active site | 246 | 1 | Charge relay system By similarity | ||||||
| Active site | 333 | 1 | Charge relay system By similarity | ||||||
| Active site | 372 | 1 | Charge relay system By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 11 – 48 | 38 | Missing in isoform 3. | VSP_037372 | |||||
| Alternative sequence | 387 – 398 | 12 | EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2. | VSP_009097 | |||||
| Natural variant | 349 | 1 | A → T: dbSNP rs746748. | VAR_050630 | |||||
Experimental info | |||||||||
| Sequence conflict | 359 | 1 | V → I in BAF83504. Ref.1 | ||||||
| Sequence conflict | 376 | 1 | Y → C in BAC11357. Ref.1 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| AK075023 mRNA. Translation: BAC11357.1. AK290815 mRNA. Translation: BAF83504.1. AK293495 mRNA. Translation: BAG56982.1. AL121772, AL353812 Genomic DNA. Translation: CAI23474.1. AL121772, AL353812 Genomic DNA. Translation: CAI23475.1. AL353812, AL121772 Genomic DNA. Translation: CAI13762.1. AL353812, AL121772 Genomic DNA. Translation: CAI13763.1. CH471133 Genomic DNA. Translation: EAX10089.1. BC014049 mRNA. Translation: AAH14049.1. AL117442 mRNA. Translation: CAB55927.1. | |
| IPI | IPI00060569. IPI00394779. IPI00930555. |
| PIR | T17237. |
| RefSeq | NP_001035937.1. NP_056415.1. |
| UniGene | Hs.441550 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q8N2K0. |
Protein family/group databases | |
| MEROPS | S09.054. |
Proteomic databases | |
| PRIDE | Q8N2K0. |
Genome annotation databases | |
| Ensembl | ENST00000339157; ENSP00000341408; ENSG00000100997; Homo sapiens. [Genome view] |
| GeneID | 26090. |
| KEGG | hsa:26090. |
| UCSC | uc002wuq.1. human. uc002wus.1. human. |
Organism-specific databases | |
| CTD | 26090. |
| GeneCards | GC20M025224. |
| HGNC | HGNC:15868. ABHD12. |
| HPA | HPA026866. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q8N2K0. |
| OMA | KKLYNIA |
Gene expression databases | |
| ArrayExpress | Q8N2K0. |
| Bgee | Q8N2K0. |
| CleanEx | HS_ABHD12. |
| Genevestigator | Q8N2K0. |
| GermOnline | ENSG00000100997. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR000073. AB_hydrolase_1. [Graphical view] |
| Pfam | PF00561. Abhydrolase_1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 48021. |
Entry information
| Entry name | ABD12_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N2K0 Secondary accession number(s): A6NED4 Q9UFV6 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
Relevant documents
| Human chromosome 20 Human chromosome 20: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| SIMILARITY comments Index of protein domains and families |

Clusters with


