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Sequence of ABD12_HUMAN

EC Number:3.1.1.23

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
acylglycerol lipase
Q8N2K0
Homo sapiens
398
45097
Reaction
CnHmCO-C3O3H7 + H2O = CnHmCO2H + glycerol
Other sequences found for EC No. 3.1.1.23

General information:

Sequence
show sequence in fasta format
  0 MRKRTEPVAL EHERCAAAGS SSSGSAAAAL DADCRLKQNL RLTGPAAAEP RCAADAGMKR
 60 ALGRRKGVWL RLRKILFCVL GLYIAIPFLI KLCPGIQAKL IFLNFVRVPY FIDLKKPQDQ
120 GLNHTCNYYL QPEEDVTIGV WHTVPAVWWK NAQGKDQMWY EDALASSHPI ILYLHGNAGT
180 RGGDHRVELY KVLSSLGYHV VTFDYRGWGD SVGTPSERGM TYDALHVFDW IKARSGDNPV
240 YIWGHSLGTG VATNLVRRLC ERETPPDALI LESPFTNIRE EAKSHPFSVI YRYFPGFDWF
300 FLDPITSSGI KFANDENVKH ISCPLLILHA EDDPVVPFQL GRKLYSIAAP ARSFRDFKVQ
360 FVPFHSDLGY RHKYIYKSPE LPRILREFLG KSEPEHQH
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
127720
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.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
127721
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.
The DNA sequence and comparative analysis of human chromosome 20.
Nature
414
865-871
2001
127723
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
127724
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.
The full-ORF clone resource of the German cDNA consortium.
BMC Genomics
8
399-399
2007
127725
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.
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.
Am. J. Hum. Genet.
87
410-417
2010
127726
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
127727
Navia-Paldanius D.,Savinainen J.R.,Laitinen J.T.
Biochemical and pharmacological characterization of human alpha/beta-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12).
J. Lipid Res.
53
2413-2424
2012
127728
Eisenberger T.,Slim R.,Mansour A.,Nauck M.,Nurnberg G.,Nurnberg P.,Decker C.,Dafinger C.,Ebermann I.,Bergmann C.,Bolz H.J.
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.
Orphanet J. Rare Dis.
7
59-59
2012
127729
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.
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Hum. Mutat.
34
1672-1678
2013
127730
Parkkari T.,Haavikko R.,Laitinen T.,Navia-Paldanius D.,Rytilahti R.,Vaara M.,Lehtonen M.,Alakurtti S.,Yli-Kauhaluoma J.,Nevalainen T.,Savinainen J.R.,Laitinen J.T.
Discovery of triterpenoids as reversible inhibitors of alpha/beta-hydrolase domain containing 12 (ABHD12).
PLoS ONE
9
0-0
2014
127731
Savinainen J.R.,Patel J.Z.,Parkkari T.,Navia-Paldanius D.,Marjamaa J.J.,Laitinen T.,Nevalainen T.,Laitinen J.T.
Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A).
PLoS ONE
9
0-0
2014
127732
Yoshimura H.,Hashimoto T.,Murata T.,Fukushima K.,Sugaya A.,Nishio S.Y.,Usami S.
Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
Ann. Otol. Rhinol. Laryngol.
124
77-83
2015
127733
Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.
N-terminome analysis of the human mitochondrial proteome.
Proteomics
15
2519-2524
2015
127734
Joshi A.,Shaikh M.,Singh S.,Rajendran A.,Mhetre A.,Kamat S.S.
Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.
J. Biol. Chem.
293
16953-16963
2018
127735
Frasquet M.,Lupo V.,Chumillas M.J.,Vazquez-Costa J.F.,Espinos C.,Sevilla T.
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
J. Neurol. Sci.
387
134-138
2018
127736
Ogasawara D.,Ichu T.A.,Vartabedian V.F.,Benthuysen J.,Jing H.,Reed A.,Ulanovskaya O.A.,Hulce J.J.,Roberts A.,Brown S.,Rosen H.,Teijaro J.R.,Cravatt B.F.
Selective blockade of the lyso-PS lipase ABHD12 stimulates immune responses in vivo.
Nat. Chem. Biol.
14
1099-1108
2018
127737
Ogasawara D.,Ichu T.A.,Jing H.,Hulce J.J.,Reed A.,Ulanovskaya O.A.,Cravatt B.F.
Discovery and optimization of selective and in vivo active inhibitors of the lysophosphatidylserine lipase alpha/beta-hydrolase domain-containing 12 (ABHD12).
J. Med. Chem.
62
1643-1656
2019
127738
Kelkar D.S.,Ravikumar G.,Mehendale N.,Singh S.,Joshi A.,Sharma A.K.,Mhetre A.,Rajendran A.,Chakrapani H.,Kamat S.S.
A chemical-genetic screen identifies ABHD12 as an oxidized-phosphatidylserine lipase.
Nat. Chem. Biol.
15
169-178
2019
127739
Nishiguchi K.M.,Avila-Fernandez A.,van Huet R.A.,Corton M.,Perez-Carro R.,Martin-Garrido E.,Lopez-Molina M.I.,Blanco-Kelly F.,Hoefsloot L.H.,van Zelst-Stams W.A.,Garcia-Ruiz P.J.,Del Val J.,Di Gioia S.A.,Klevering B.J.,van de Warrenburg B.P.,Vazquez C.,Cremers F.P.,Garcia-Sandoval B.,Hoyng C.B.,Collin R.W.,Rivolta C.,Ayuso C.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Ophthalmology
121
1620-1627
2014
127740
Tingaud-Sequeira A.,Raldua D.,Lavie J.,Mathieu G.,Bordier M.,Knoll-Gellida A.,Rambeau P.,Coupry I.,Andre M.,Malm E.,Moeller C.,Andreasson S.,Rendtorff N.D.,Tranebjaerg L.,Koenig M.,Lacombe D.,Goizet C.,Babin P.J.
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Neurobiol. Dis.
98
36-51
2017