Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q8N2K0 (ABD12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Monoacylglycerol lipase ABHD12

EC=3.1.1.23
Alternative name(s):
2-arachidonoylglycerol hydrolase
Abhydrolase domain-containing protein 12
Gene names
Name:ABHD12
Synonyms:C20orf22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length398 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Lysophosphatidylserine (LPS) lipase, that plays a key role in the central nervous system. Represents a major LPS lipase in the brain. Has 2-arachidonoylglycerol (2-AG) hydrolase activity. May act as a regulator of endocannabinoid signaling pathways. Ref.9

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.

Involvement in disease

Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]: 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 neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.9

Sequence similarities

Belongs to the serine esterase family.

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 (Ref.8).

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 398398Monoacylglycerol lipase ABHD12
PRO_0000079413

Regions

Topological domain1 – 7474Cytoplasmic Potential
Transmembrane75 – 9521Helical; Potential
Topological domain96 – 398303Extracellular Potential
Compositional bias20 – 256Poly-Ser
Compositional bias26 – 294Poly-Ala

Sites

Active site2461Charge relay system By similarity
Active site3331Charge relay system By similarity
Active site3721Charge relay system By similarity

Natural variations

Alternative sequence11 – 4838Missing in isoform 3.
VSP_037372
Alternative sequence387 – 39812EFLGK…PEHQH → PQQGPGSSPDPSMWSELV in isoform 2.
VSP_009097
Natural variant3491A → T.
Corresponds to variant rs746748 [ dbSNP | Ensembl ].
VAR_050630

Experimental info

Sequence conflict3591V → I in BAF83504. Ref.1
Sequence conflict3761Y → C in BAC11357. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 28, 2003. Version 2.
Checksum: E21425C1412B5607

FASTA39845,097
        10         20         30         40         50         60 
MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP RCAADAGMKR 

        70         80         90        100        110        120 
ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL IFLNFVRVPY FIDLKKPQDQ 

       130        140        150        160        170        180 
GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK NAQGKDQMWY EDALASSHPI ILYLHGNAGT 

       190        200        210        220        230        240 
RGGDHRVELY KVLSSLGYHV VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV 

       250        260        270        280        290        300 
YIWGHSLGTG VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF 

       310        320        330        340        350        360 
FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP ARSFRDFKVQ 

       370        380        390 
FVPFHSDLGY RHKYIYKSPE LPRILREFLG KSEPEHQH 

« Hide

Isoform 2 [UniParc].

Checksum: 9BB2A5E05E8BA15F
Show »

FASTA40445,558
Isoform 3 [UniParc].

Checksum: 0F9E42F1D556B0E6
Show »

FASTA36041,387

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Cerebellum, Kidney and Ovarian carcinoma.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Pancreas.
[5]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 152-398 (ISOFORM 1).
Tissue: Testis.
[6]"Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism."
Fiskerstrand T., H'mida-Ben Brahim D., Johansson S., M'zahem A., Haukanes B.I., Drouot N., Zimmermann J., Cole A.J., Vedeler C., Bredrup C., Assoum M., Tazir M., Klockgether T., Hamri A., Steen V.M., Boman H., Bindoff L.A., Koenig M., Knappskog P.M.
Am. J. Hum. Genet. 87:410-417(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PHARC.
[7]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3."
Eisenberger T., Slim R., Mansour A., Nauck M., Nurnberg G., Nurnberg P., Decker C., Dafinger C., Ebermann I., Bergmann C., Bolz H.J.
Orphanet J. Rare Dis. 7:59-59(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN PHARC.
[9]"Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects."
Chen D.H., Naydenov A., Blankman J.L., Mefford H.C., Davis M., Sul Y., Barloon A.S., Bonkowski E., Wolff J., Matsushita M., Smith C., Cravatt B.F., Mackie K., Raskind W.H., Stella N., Bird T.D.
Hum. Mutat. 34:1672-1678(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INVOLVEMENT IN PHARC.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS13172.1. [Q8N2K0-2]
CCDS42857.1. [Q8N2K0-1]
PIRT17237.
RefSeqNP_001035937.1. NM_001042472.2. [Q8N2K0-1]
NP_056415.1. NM_015600.4. [Q8N2K0-2]
UniGeneHs.441550.

3D structure databases

ProteinModelPortalQ8N2K0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117541. 1 interaction.
IntActQ8N2K0. 1 interaction.

Chemistry

BindingDBQ8N2K0.
ChEMBLCHEMBL5516.

Protein family/group databases

MEROPSS09.054.

PTM databases

PhosphoSiteQ8N2K0.

Polymorphism databases

DMDM38604894.

Proteomic databases

MaxQBQ8N2K0.
PaxDbQ8N2K0.
PRIDEQ8N2K0.

Protocols and materials databases

DNASU26090.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000339157; ENSP00000341408; ENSG00000100997. [Q8N2K0-1]
ENST00000376542; ENSP00000365725; ENSG00000100997. [Q8N2K0-2]
GeneID26090.
KEGGhsa:26090.
UCSCuc002wuq.3. human. [Q8N2K0-2]
uc002wus.2. human. [Q8N2K0-1]

Organism-specific databases

CTD26090.
GeneCardsGC20M025275.
HGNCHGNC:15868. ABHD12.
HPAHPA026866.
MIM612674. phenotype.
613599. gene.
neXtProtNX_Q8N2K0.
Orphanet171848. Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract.
PharmGKBPA25738.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1073.
HOVERGENHBG051152.
KOK13704.
OMAGPAEPRC.
PhylomeDBQ8N2K0.
TreeFamTF315122.

Gene expression databases

ArrayExpressQ8N2K0.
BgeeQ8N2K0.
CleanExHS_ABHD12.
GenevestigatorQ8N2K0.

Family and domain databases

Gene3D3.40.50.1820. 2 hits.
InterProIPR029058. AB_hydrolase.
IPR029059. AB_hydrolase_5.
IPR026605. ABHD12.
[Graphical view]
PANTHERPTHR12277:SF47. PTHR12277:SF47. 1 hit.
PfamPF12695. Abhydrolase_5. 1 hit.
[Graphical view]
SUPFAMSSF53474. SSF53474. 1 hit.
ProtoNetSearch...

Other

ChiTaRSABHD12. human.
GenomeRNAi26090.
NextBio48021.
PROQ8N2K0.
SOURCESearch...

Entry information

Entry nameABD12_HUMAN
AccessionPrimary (citable) accession number: Q8N2K0
Secondary accession number(s): A6NED4 expand/collapse secondary AC list , A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 28, 2003
Last sequence update: November 28, 2003
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM