Sequence of CERS1_HUMAN
EC Number:2.3.1.299
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
stearoyl-CoA + a sphingoid base = an N-(stearoyl)-sphingoid base + CoA
General information:
Sequence
0 MAAAGPAAGP TGPEPMPSYA QLVQRGWGSA LAAARGCTDC GWGLARRGLA EHAHLAPPEL
60 LLLALGALGW TALRSAATAR LFRPLAKRCC LQPRDAAKMP ESAWKFLFYL GSWSYSAYLL
120 FGTDYPFFHD PPSVFYDWTP GMAVPRDIAA AYLLQGSFYG HSIYATLYMD TWRKDSVVML
180 LHHVVTLILI VSSYAFRYHN VGILVLFLHD ISDVQLEFTK LNIYFKSRGG SYHRLHALAA
240 DLGCLSFGFS WFWFRLYWFP LKVLYATSHC SLRTVPDIPF YFFFNALLLL LTLMNLYWFL
300 YIVAFAAKVL TGQVHELKDL REYDTAEAQS LKPSKAEKPL RNGLVKDKRF
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
482125
Lee S.-J.
Expression of growth/differentiation factor 1 in the nervous system: conservation of a bicistronic structure.
Proc. Natl. Acad. Sci. U.S.A.
88
4250-4254
1991
482126
Jiang J.C.,Kirchman P.A.,Zagulski M.,Hunt J.,Jazwinski S.M.
Homologs of the yeast longevity gene LAG1 in Caenorhabditis elegans and human.
Genome Res.
8
1259-1272
1998
482127
Grimwood J.,Gordon L.A.,Olsen A.S.,Terry A.,Schmutz J.,Lamerdin J.E.,Hellsten U.,Goodstein D.,Couronne O.,Tran-Gyamfi M.,Aerts A.,Altherr M.,Ashworth L.,Bajorek E.,Black S.,Branscomb E.,Caenepeel S.,Carrano A.V.,Caoile C.,Chan Y.M.,Christensen M.,Cleland C.A.,Copeland A.,Dalin E.,Dehal P.,Denys M.,Detter J.C.,Escobar J.,Flowers D.,Fotopulos D.,Garcia C.,Georgescu A.M.,Glavina T.,Gomez M.,Gonzales E.,Groza M.,Hammon N.,Hawkins T.,Haydu L.,Ho I.,Huang W.,Israni S.,Jett J.,Kadner K.,Kimball H.,Kobayashi A.,Larionov V.,Leem S.-H.,Lopez F.,Lou Y.,Lowry S.,Malfatti S.,Martinez D.,McCready P.M.,Medina C.,Morgan J.,Nelson K.,Nolan M.,Ovcharenko I.,Pitluck S.,Pollard M.,Popkie A.P.,Predki P.,Quan G.,Ramirez L.,Rash S.,Retterer J.,Rodriguez A.,Rogers S.,Salamov A.,Salazar A.,She X.,Smith D.,Slezak T.,Solovyev V.,Thayer N.,Tice H.,Tsai M.,Ustaszewska A.,Vo N.,Wagner M.,Wheeler J.,Wu K.,Xie G.,Yang J.,Dubchak I.,Furey T.S.,DeJong P.,Dickson M.,Gordon D.,Eichler E.E.,Pennacchio L.A.,Richardson P.,Stubbs L.,Rokhsar D.S.,Myers R.M.,Rubin E.M.,Lucas S.M.
The DNA sequence and biology of human chromosome 19.
Nature
428
529-535
2004
482128
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
482129
Lahiri S.,Lee H.,Mesicek J.,Fuks Z.,Haimovitz-Friedman A.,Kolesnick R.N.,Futerman A.H.
Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine.
FEBS Lett.
581
5289-5294
2007
482130
Bienvenut W.V.,Sumpton D.,Martinez A.,Lilla S.,Espagne C.,Meinnel T.,Giglione C.
Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
Mol. Cell. Proteomics
11
M111.015131-M111.015131
2012
482131
Sentelle R.D.,Senkal C.E.,Jiang W.,Ponnusamy S.,Gencer S.,Selvam S.P.,Ramshesh V.K.,Peterson Y.K.,Lemasters J.J.,Szulc Z.M.,Bielawski J.,Ogretmen B.
Ceramide targets autophagosomes to mitochondria and induces lethal mitophagy.
Nat. Chem. Biol.
8
831-838
2012
482132
Russo S.B.,Tidhar R.,Futerman A.H.,Cowart L.A.
Myristate-derived d16:0 sphingolipids constitute a cardiac sphingolipid pool with distinct synthetic routes and functional properties.
J. Biol. Chem.
288
13397-13409
2013
482133
Vanni N.,Fruscione F.,Ferlazzo E.,Striano P.,Robbiano A.,Traverso M.,Sander T.,Falace A.,Gazzerro E.,Bramanti P.,Bielawski J.,Fassio A.,Minetti C.,Genton P.,Zara F.
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.
Ann. Neurol.
76
206-212
2014
482134
Sassa T.,Hirayama T.,Kihara A.
Enzyme activities of the ceramide synthases CERS2-6 are regulated by phosphorylation in the C-terminal region.
J. Biol. Chem.
291
7477-7487
2016
482135
Jojima K.,Edagawa M.,Sawai M.,Ohno Y.,Kihara A.
Biosynthesis of the anti-lipid-microdomain sphingoid base 4,14-sphingadiene by the ceramide desaturase FADS3.
FASEB J.
34
3318-3335
2020
482136
Courage C.,Oliver K.L.,Park E.J.,Cameron J.M.,Grabinska K.A.,Muona M.,Canafoglia L.,Gambardella A.,Said E.,Afawi Z.,Baykan B.,Brandt C.,di Bonaventura C.,Chew H.B.,Criscuolo C.,Dibbens L.M.,Castellotti B.,Riguzzi P.,Labate A.,Filla A.,Giallonardo A.T.,Berecki G.,Jackson C.B.,Joensuu T.,Damiano J.A.,Kivity S.,Korczyn A.,Palotie A.,Striano P.,Uccellini D.,Giuliano L.,Andermann E.,Scheffer I.E.,Michelucci R.,Bahlo M.,Franceschetti S.,Sessa W.C.,Berkovic S.F.,Lehesjoki A.E.
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
Am. J. Hum. Genet.
108
722-738
2021
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