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Sequence of HMGCL_HUMAN

EC Number:4.1.3.4

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
hydroxymethylglutaryl-CoA lyase
P35914
Homo sapiens
325
34360
Reaction
(S)-3-Hydroxy-3-methylglutaryl-CoA = acetyl-CoA + acetoacetate
Other sequences found for EC No. 4.1.3.4

General information:

Sequence
show sequence in fasta format
  0 MAAMRKALPR RLVGLASLRA VSTSSMGTLP KRVKIVEVGP RDGLQNEKNI VSTPVKIKLI
 60 DMLSEAGLSV IETTSFVSPK WVPQMGDHTE VLKGIQKFPG INYPVLTPNL KGFEAAVAAG
120 AKEVVIFGAA SELFTKKNIN CSIEESFQRF DAILKAAQSA NISVRGYVSC ALGCPYEGKI
180 SPAKVAEVTK KFYSMGCYEI SLGDTIGVGT PGIMKDMLSA VMQEVPLAAL AVHCHDTYGQ
240 ALANTLMALQ MGVSVVDSSV AGLGGCPYAQ GASGNLATED LVYMLEGLGI HTGVNLQKLL
300 EAGNFICQAL NRKTSSKVAQ ATCKL
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
172632
Mitchell G.A.,Robert M.-F.,Hruz P.W.,Wang S.,Fontaine G.,Behnke C.E.,Mende-Mueller L.M.,Schappert K.,Lee C.,Gibson K.M.,Miziorko H.M.
3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.
J. Biol. Chem.
268
4376-4381
1993
172634
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
172636
Gregory S.G.,Barlow K.F.,McLay K.E.,Kaul R.,Swarbreck D.,Dunham A.,Scott C.E.,Howe K.L.,Woodfine K.,Spencer C.C.A.,Jones M.C.,Gillson C.,Searle S.,Zhou Y.,Kokocinski F.,McDonald L.,Evans R.,Phillips K.,Atkinson A.,Cooper R.,Jones C.,Hall R.E.,Andrews T.D.,Lloyd C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Anderson F.,Andrew R.W.,Ashwell R.I.S.,Aubin K.,Babbage A.K.,Bagguley C.L.,Bailey J.,Beasley H.,Bethel G.,Bird C.P.,Bray-Allen S.,Brown J.Y.,Brown A.J.,Buckley D.,Burton J.,Bye J.,Carder C.,Chapman J.C.,Clark S.Y.,Clarke G.,Clee C.,Cobley V.,Collier R.E.,Corby N.,Coville G.J.,Davies J.,Deadman R.,Dunn M.,Earthrowl M.,Ellington A.G.,Errington H.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Gay L.,Ghori M.R.J.,Gibson R.,Gilby L.M.,Gillett W.,Glithero R.J.,Grafham D.V.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Hammond S.,Harrison E.S.I.,Hart E.,Haugen E.,Heath P.D.,Holmes S.,Holt K.,Howden P.J.,Hunt A.R.,Hunt S.E.,Hunter G.,Isherwood J.,James R.,Johnson C.,Johnson D.,Joy A.,Kay M.,Kershaw J.K.,Kibukawa M.,Kimberley A.M.,King A.,Knights A.J.,Lad H.,Laird G.,Lawlor S.,Leongamornlert D.A.,Lloyd D.M.,Loveland J.,Lovell J.,Lush M.J.,Lyne R.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,Matthews N.S.W.,McLaren S.,Milne S.,Mistry S.,Moore M.J.F.,Nickerson T.,O'Dell C.N.,Oliver K.,Palmeiri A.,Palmer S.A.,Parker A.,Patel D.,Pearce A.V.,Peck A.I.,Pelan S.,Phelps K.,Phillimore B.J.,Plumb R.,Rajan J.,Raymond C.,Rouse G.,Saenphimmachak C.,Sehra H.K.,Sheridan E.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.,Steward C.,Subramanian S.,Sycamore N.,Tracey A.,Tromans A.,Van Helmond Z.,Wall M.,Wallis J.M.,White S.,Whitehead S.L.,Wilkinson J.E.,Willey D.L.,Williams H.,Wilming L.,Wray P.W.,Wu Z.,Coulson A.,Vaudin M.,Sulston J.E.,Durbin R.M.,Hubbard T.,Wooster R.,Dunham I.,Carter N.P.,McVean G.,Ross M.T.,Harrow J.,Olson M.V.,Beck S.,Rogers J.,Bentley D.R.
The DNA sequence and biological annotation of human chromosome 1.
Nature
441
315-321
2006
172638
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
172639
Wang S.P.,Robert M.-F.,Gibson K.M.,Wanders R.J.A.,Mitchell G.A.
3-hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients.
Genomics
33
99-104
1996
172640
Puisac B.,Ramos M.,Arnedo M.,Menao S.,Gil-Rodriguez M.C.,Teresa-Rodrigo M.E.,Pie A.,de Karam J.C.,Wesselink J.J.,Gimenez I.,Ramos F.J.,Casals N.,Gomez-Puertas P.,Hegardt F.G.,Pie J.
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Mol. Biol. Rep.
39
4777-4785
2012
172641
Ashmarina L.I.,Rusnak N.,Miziorko H.M.,Mitchell G.A.
3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes.
J. Biol. Chem.
269
31929-31932
1994
172642
Holmes H.C.,Burns S.P.,Chalmers R.A.,Bain M.S.,Iles R.A.
Ketogenic flux from lipids and leucine, assessment in 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Biochem. Soc. Trans.
23
0-0
1995
172643
Tuinstra R.L.,Burgner J.W. II,Miziorko H.M.
Investigation of the oligomeric status of the peroxisomal isoform of human 3-hydroxy-3-methylglutaryl-CoA lyase.
Arch. Biochem. Biophys.
408
286-294
2002
172644
Tuinstra R.L.,Miziorko H.M.
Investigation of conserved acidic residues in 3-hydroxy-3-methylglutaryl-CoA lyase: implications for human disease and for functional roles in a family of related proteins.
J. Biol. Chem.
278
37092-37098
2003
172645
Tuinstra R.L.,Wang C.-Z.,Mitchell G.A.,Miziorko H.M.
Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization.
Biochemistry
43
5287-5295
2004
172646
Choudhary C.,Kumar C.,Gnad F.,Nielsen M.L.,Rehman M.,Walther T.C.,Olsen J.V.,Mann M.
Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Science
325
834-840
2009
172647
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
172648
Montgomery C.,Pei Z.,Watkins P.A.,Miziorko H.M.
Identification and characterization of an extramitochondrial human 3-Hydroxy-3-methylglutaryl-CoA lyase.
J. Biol. Chem.
287
33227-33236
2012
172649
Arnedo M.,Menao S.,Puisac B.,Teresa-Rodrigo M.E.,Gil-Rodriguez M.C.,Lopez-Vinas E.,Gomez-Puertas P.,Casals N.,Casale C.H.,Hegardt F.G.,Pie J.
Characterization of a novel HMG-CoA Lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
J. Lipid Res.
53
2046-2056
2012
172650
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
172651
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
172652
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
172653
Fu Z.,Runquist J.A.,Forouhar F.,Hussain M.,Hunt J.F.,Miziorko H.M.,Kim J.J.
Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
J. Biol. Chem.
281
7526-7532
2006
172654
Roberts J.,Mitchell G.A.,Miziorko H.M.
Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine-233 as an active site residue.
J. Biol. Chem.
271
24604-24609
1996
172655
Mitchell G.A.,Ozand P.T.,Robert M.-F.,Ashmarina L.,Roberts J.,Gibson K.M.,Wanders R.J.,Wang S.,Chevalier I.,Ploechl E.,Miziorko H.
HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.
Am. J. Hum. Genet.
62
295-300
1998
172656
Zapater N.,Pie J.,Lloberas J.,Rolland M.O.,Leroux B.,Vidailhet M.,Divry P.,Hegardt F.G.,Casals N.
Two missense point mutations in different alleles in the 3-hydroxy-3-methylglutaryl coenzyme A lyase gene produce 3-hydroxy-3-methylglutaric aciduria in a French patient.
Arch. Biochem. Biophys.
358
197-203
1998
172657
Muroi J.,Yorifuji T.,Uematsu A.,Shigematsu Y.,Onigata K.,Maruyama H.,Nobutoki T.,Kitamura A.,Nakahata T.
Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.
Hum. Genet.
107
320-326
2000
172658
Casals N.,Gomez-Puertas P.,Pie J.,Mir C.,Roca R.,Puisac B.,Aledo R.,Clotet J.,Menao S.,Serra D.,Asins G.,Till J.,Elias-Jones A.C.,Cresto J.C.,Chamoles N.A.,Abdenur J.E.,Mayatepek E.,Besley G.,Valencia A.,Hegardt F.G.
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
J. Biol. Chem.
278
29016-29023
2003
172659
Al-Sayed M.,Imtiaz F.,Alsmadi O.A.,Rashed M.S.,Meyer B.F.
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
BMC Med. Genet.
7
86-86
2006
172660
Mir C.,Lopez-Vinas E.,Aledo R.,Puisac B.,Rizzo C.,Dionisi-Vici C.,Deodato F.,Pie J.,Gomez-Puertas P.,Hegardt F.G.,Casals N.
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
J. Inherit. Metab. Dis.
29
64-70
2006
172661
Carrasco P.,Menao S.,Lopez-Vinas E.,Santpere G.,Clotet J.,Sierra A.Y.,Gratacos E.,Puisac B.,Gomez-Puertas P.,Hegardt F.G.,Pie J.,Casals N.
C-terminal end and aminoacid Lys48 in HMG-CoA lyase are involved in substrate binding and enzyme activity.
Mol. Genet. Metab.
91
120-127
2007
172662
Lin W.D.,Wang C.H.,Lai C.C.,Tsai Y.,Wu J.Y.,Chen C.P.,Tsai F.J.
Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Clin. Chim. Acta
401
33-36
2009
172663
Menao S.,Lopez-Vinas E.,Mir C.,Puisac B.,Gratacos E.,Arnedo M.,Carrasco P.,Moreno S.,Ramos M.,Gil M.C.,Pie A.,Ribes A.,Perez-Cerda C.,Ugarte M.,Clayton P.T.,Korman S.H.,Serra D.,Asins G.,Ramos F.J.,Gomez-Puertas P.,Hegardt F.G.,Casals N.,Pie J.
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Hum. Mutat.
30
0-0
2009