Q8N2K0 (ABD12_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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

Name:	ABHD12
Synonyms:	C20orf22

Organism

Homo sapiens (Human)

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.
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.
Involvement in 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 neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. Ref.6
Sequence similarities	Belongs to the serine esterase family.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract Deafness Neuropathy Retinitis pigmentosa
Domain	Transmembrane Transmembrane helix
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
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	Helical; 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. Corresponds to variant rs746748 [ dbSNP | Ensembl ].		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

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 28, 2003. Version 2. Checksum: E21425C1412B5607	FASTA	398	45,097
	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
	Isoform 2 [UniParc]. Checksum: 9BB2A5E05E8BA15F	FASTA	404	45,558
	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 370 380 390 400 FVPFHSDLGY RHKYIYKSPE LPRILRPQQG PGSSPDPSMW SELV
	Isoform 3 [UniParc]. Checksum: 0F9E42F1D556B0E6	FASTA	360	41,387
	10 20 30 40 50 60 MRKRTEPVAL EPRCAADAGM KRALGRRKGV WLRLRKILFC VLGLYIAIPF LIKLCPGIQA 70 80 90 100 110 120 KLIFLNFVRV PYFIDLKKPQ DQGLNHTCNY YLQPEEDVTI GVWHTVPAVW WKNAQGKDQM 130 140 150 160 170 180 WYEDALASSH PIILYLHGNA GTRGGDHRVE LYKVLSSLGY HVVTFDYRGW GDSVGTPSER 190 200 210 220 230 240 GMTYDALHVF DWIKARSGDN PVYIWGHSLG TGVATNLVRR LCERETPPDA LILESPFTNI 250 260 270 280 290 300 REEAKSHPFS VIYRYFPGFD WFFLDPITSS GIKFANDENV KHISCPLLIL HAEDDPVVPF 310 320 330 340 350 360 QLGRKLYSIA APARSFRDFK VQFVPFHSDL GYRHKYIYKS PELPRILREF LGKSEPEHQH

References

	« Hide 'large scale' referencesShow '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. , 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: 14702039] [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. , 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: 11780052] [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. , 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: 15489334] [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: 17974005] [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: 20797687] [Abstract] Cited for: INVOLVEMENT IN PHARC.

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.
IPI	IPI00060569. IPI00394779. IPI00930555.
PIR	T17237.
RefSeq	NP_001035937.1. NM_001042472.2. NP_056415.1. NM_015600.4.
UniGene	Hs.441550.
3D structure databases
ProteinModelPortal	Q8N2K0.
SMR	Q8N2K0. Positions 167-272.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8N2K0.
Protein family/group databases
MEROPS	S09.054.
Polymorphism databases
DMDM	38604894.
Proteomic databases
PRIDE	Q8N2K0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000339157; ENSP00000341408; ENSG00000100997.
GeneID	26090.
KEGG	hsa:26090.
UCSC	uc002wuq.1. human. uc002wus.1. human.
Organism-specific databases
CTD	26090.
GeneCards	GC20M025224.
H-InvDB	HIX0015704.
HGNC	HGNC:15868. ABHD12.
HPA	HPA026866.
MIM	612674. phenotype. 613599. gene.
neXtProt	NX_Q8N2K0.
Orphanet	171848. Peripheral neuropathy, Fiskerstrand type.
PharmGKB	PA25738.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG13593.
GeneTree	ENSGT00390000006625.
HOVERGEN	HBG051152.
OMA	EFLGKSE.
PhylomeDB	Q8N2K0.
Gene expression databases
ArrayExpress	Q8N2K0.
Bgee	Q8N2K0.
CleanEx	HS_ABHD12.
Genevestigator	Q8N2K0.
GermOnline	ENSG00000100997. Homo sapiens.
Family and domain databases
KO	K13704.
ProtoNet	Search...
Other
NextBio	48021.
SOURCE	Search...

Entry information

Entry name

ABD12_HUMAN

Accession

Primary (citable) accession number: Q8N2K0
Secondary accession number(s): A6NED4 , 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:	December 14, 2011
This is version 83 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.