Sequence of MUTA_HUMAN

EC Number:5.4.99.2

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
methylmalonyl-CoA mutase
P22033
Homo sapiens
750
83134
Reaction
(R)-methylmalonyl-CoA = succinyl-CoA
Other sequences found for EC No. 5.4.99.2

General information:

Sequence
show sequence in fasta format
  0 MLRAKNQLFL LSPHYLRQVK ESSGSRLIQQ RLLHQQQPLH PEWAALAKKQ LKGKNPEDLI
 60 WHTPEGISIK PLYSKRDTMD LPEELPGVKP FTRGPYPTMY TFRPWTIRQY AGFSTVEESN
120 KFYKDNIKAG QQGLSVAFDL ATHRGYDSDN PRVRGDVGMA GVAIDTVEDT KILFDGIPLE
180 KMSVSMTMNG AVIPVLANFI VTGEEQGVPK EKLTGTIQND ILKEFMVRNT YIFPPEPSMK
240 IIADIFEYTA KHMPKFNSIS ISGYHMQEAG ADAILELAYT LADGLEYSRT GLQAGLTIDE
300 FAPRLSFFWG IGMNFYMEIA KMRAGRRLWA HLIEKMFQPK NSKSLLLRAH CQTSGWSLTE
360 QDPYNNIVRT AIEAMAAVFG GTQSLHTNSF DEALGLPTVK SARIARNTQI IIQEESGIPK
420 VADPWGGSYM MECLTNDVYD AALKLINEIE EMGGMAKAVA EGIPKLRIEE CAARRQARID
480 SGSEVIVGVN KYQLEKEDAV EVLAIDNTSV RNRQIEKLKK IKSSRDQALA ERCLAALTEC
540 AASGDGNILA LAVDASRARC TVGEITDALK KVFGEHKAND RMVSGAYRQE FGESKEITSA
600 IKRVHKFMER EGRRPRLLVA KMGQDGHDRG AKVIATGFAD LGFDVDIGPL FQTPREVAQQ
660 AVDADVHAVG ISTLAAGHKT LVPELIKELN SLGRPDILVM CGGVIPPQDY EFLFEVGVSN
720 VFGPGTRIPK AAVQVLDDIE KCLEKKQQSV
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Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
688855
Ledley F.D.,Lumetta M.,Nguyen P.N.,Kolhouse J.F.,Allen R.H.
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.
Proc. Natl. Acad. Sci. U.S.A.
85
3518-3521
1988
688856
Jansen R.,Kalousek F.,Fenton W.A.,Rosenberg L.E.,Ledley F.D.
Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction.
Genomics
4
198-205
1989
688857
Nham S.U.,Wilkemeyer M.F.,Ledley F.D.
Structure of the human methylmalonyl-CoA mutase (MUT) locus.
Genomics
8
710-716
1990
688858
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
688860
Mungall A.J.,Palmer S.A.,Sims S.K.,Edwards C.A.,Ashurst J.L.,Wilming L.,Jones M.C.,Horton R.,Hunt S.E.,Scott C.E.,Gilbert J.G.R.,Clamp M.E.,Bethel G.,Milne S.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Andrews T.D.,Ashwell R.I.S.,Babbage A.K.,Bagguley C.L.,Bailey J.,Banerjee R.,Barker D.J.,Barlow K.F.,Bates K.,Beare D.M.,Beasley H.,Beasley O.,Bird C.P.,Blakey S.E.,Bray-Allen S.,Brook J.,Brown A.J.,Brown J.Y.,Burford D.C.,Burrill W.,Burton J.,Carder C.,Carter N.P.,Chapman J.C.,Clark S.Y.,Clark G.,Clee C.M.,Clegg S.,Cobley V.,Collier R.E.,Collins J.E.,Colman L.K.,Corby N.R.,Coville G.J.,Culley K.M.,Dhami P.,Davies J.,Dunn M.,Earthrowl M.E.,Ellington A.E.,Evans K.A.,Faulkner L.,Francis M.D.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Ghori M.J.,Gilby L.M.,Gillson C.J.,Glithero R.J.,Grafham D.V.,Grant M.,Gribble S.,Griffiths C.,Griffiths M.N.D.,Hall R.,Halls K.S.,Hammond S.,Harley J.L.,Hart E.A.,Heath P.D.,Heathcott R.,Holmes S.J.,Howden P.J.,Howe K.L.,Howell G.R.,Huckle E.,Humphray S.J.,Humphries M.D.,Hunt A.R.,Johnson C.M.,Joy A.A.,Kay M.,Keenan S.J.,Kimberley A.M.,King A.,Laird G.K.,Langford C.,Lawlor S.,Leongamornlert D.A.,Leversha M.,Lloyd C.R.,Lloyd D.M.,Loveland J.E.,Lovell J.,Martin S.,Mashreghi-Mohammadi M.,Maslen G.L.,Matthews L.,McCann O.T.,McLaren S.J.,McLay K.,McMurray A.,Moore M.J.F.,Mullikin J.C.,Niblett D.,Nickerson T.,Novik K.L.,Oliver K.,Overton-Larty E.K.,Parker A.,Patel R.,Pearce A.V.,Peck A.I.,Phillimore B.J.C.T.,Phillips S.,Plumb R.W.,Porter K.M.,Ramsey Y.,Ranby S.A.,Rice C.M.,Ross M.T.,Searle S.M.,Sehra H.K.,Sheridan E.,Skuce C.D.,Smith S.,Smith M.,Spraggon L.,Squares S.L.,Steward C.A.,Sycamore N.,Tamlyn-Hall G.,Tester J.,Theaker A.J.,Thomas D.W.,Thorpe A.,Tracey A.,Tromans A.,Tubby B.,Wall M.,Wallis J.M.,West A.P.,White S.S.,Whitehead S.L.,Whittaker H.,Wild A.,Willey D.J.,Wilmer T.E.,Wood J.M.,Wray P.W.,Wyatt J.C.,Young L.,Younger R.M.,Bentley D.R.,Coulson A.,Durbin R.M.,Hubbard T.,Sulston J.E.,Dunham I.,Rogers J.,Beck S.
The DNA sequence and analysis of human chromosome 6.
Nature
425
805-811
2003
688861
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
688862
Frenkel E.P.,Kitchens R.L.
Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats.
Br. J. Haematol.
31
501-513
1975
688863
Wilkemeyer M.F.,Crane A.M.,Ledley F.D.
Primary structure and activity of mouse methylmalonyl-CoA mutase.
Biochem. J.
271
449-455
1990
688864
Takahashi-Iniguez T.,Garcia-Arellano H.,Trujillo-Roldan M.A.,Flores M.E.
Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein.
Biochem. Biophys. Res. Commun.
404
443-447
2011
688865
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
688866
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
688867
Takahashi-Iniguez T.,Gonzalez-Noriega A.,Michalak C.,Flores M.E.
Human MMAA induces the release of inactive cofactor and restores methylmalonyl-CoA mutase activity through their complex formation.
Biochimie
142
191-196
2017
688868
Shen H.,Campanello G.C.,Flicker D.,Grabarek Z.,Hu J.,Luo C.,Banerjee R.,Mootha V.K.
The human knockout gene CLYBL connects itaconate to vitamin B12.
Cell
171
771-782
2017
688869
Froese D.S.,Kochan G.,Muniz J.R.,Wu X.,Gileadi C.,Ugochukwu E.,Krysztofinska E.,Gravel R.A.,Oppermann U.,Yue W.W.
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
J. Biol. Chem.
285
38204-38213
2010
688870
Jansen R.,Ledley F.D.
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
Am. J. Hum. Genet.
47
808-814
1990
688871
Raff M.L.,Crane A.M.,Jansen R.,Ledley F.D.,Rosenblatt D.S.
Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.
J. Clin. Invest.
87
203-207
1991
688872
Crane A.M.,Martin L.S.,Valle D.,Ledley F.D.
Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.
Hum. Genet.
89
259-264
1992
688873
Crane A.M.,Jansen R.,Andrews E.R.,Ledley F.D.
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.
J. Clin. Invest.
89
385-391
1992
688874
Crane A.M.,Ledley F.D.
Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia.
Am. J. Hum. Genet.
55
42-50
1994
688875
Qureshi A.A.,Crane A.M.,Matiaszuk N.V.,Resvani I.,Ledley F.D.,Rosenblatt D.S.
Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.
J. Clin. Invest.
93
1812-1819
1994
688876
Janata J.,Kogekar N.,Fenton W.A.
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation.
Hum. Mol. Genet.
6
1457-1464
1997
688877
Ledley F.D.,Rosenblatt D.S.
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations.
Hum. Mutat.
9
1-6
1997
688878
Adjalla C.E.,Hosack A.R.,Matiaszuk N.V.,Rosenblatt D.S.
A common mutation among blacks with mut- methylmalonic aciduria.
Hum. Mutat. Suppl.
1
0-0
1998
688879
Adjalla C.E.,Hosack A.R.,Gilfix B.M.,Lamothe E.,Sun S.,Chan A.,Evans S.,Matiaszuk N.V.,Rosenblatt D.S.
Seven novel mutations in mut methylmalonic aciduria.
Hum. Mutat.
11
270-274
1998
688880
Fuchshuber A.,Mucha B.,Baumgartner E.R.,Vollmer M.,Hildebrandt F.
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Hum. Mutat.
16
179-179
2000
688881
Berger I.,Shaag A.,Anikster Y.,Baumgartner E.R.,Bar-Meir M.,Joseph A.,Elpeleg O.N.
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.
Mol. Genet. Metab.
73
107-110
2001
688882
Acquaviva C.,Benoist J.-F.,Pereira S.,Callebaut I.,Koskas T.,Porquet D.,Elion J.
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.
Hum. Mutat.
25
167-176
2005
688883
Martinez M.A.,Rincon A.,Desviat L.R.,Merinero B.,Ugarte M.,Perez B.
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.
Mol. Genet. Metab.
84
317-325
2005
688884
Worgan L.C.,Niles K.,Tirone J.C.,Hofmann A.,Verner A.,Sammak A.,Kucic T.,Lepage P.,Rosenblatt D.S.
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Hum. Mutat.
27
31-43
2006
688885
Lempp T.J.,Suormala T.,Siegenthaler R.,Baumgartner E.R.,Fowler B.,Steinmann B.,Baumgartner M.R.
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.
Mol. Genet. Metab.
90
284-290
2007
688886
Merinero B.,Perez B.,Perez-Cerda C.,Rincon A.,Desviat L.R.,Martinez M.A.,Sala P.R.,Garcia M.J.,Aldamiz-Echevarria L.,Campos J.,Cornejo V.,Del Toro M.,Mahfoud A.,Martinez-Pardo M.,Parini R.,Pedron C.,Pena-Quintana L.,Perez M.,Pourfarzam M.,Ugarte M.
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
J. Inherit. Metab. Dis.
31
55-66
2008
688887
Filippi L.,Gozzini E.,Cavicchi C.,Morrone A.,Fiorini P.,Donzelli G.,Malvagia S.,la Marca G.
Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias.
J. Inherit. Metab. Dis.
32
0-0
2009
688888
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
688889
Duendar H.,Oezguel R.K.,Guezel-Ozantuerk A.,Dursun A.,Sivri S.,Aliefendioglu D.,Coskun T.,Tokatli A.
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 no vel mutations.
Mol. Genet. Metab.
106
419-423
2012
688890
Forny P.,Froese D.S.,Suormala T.,Yue W.W.,Baumgartner M.R.
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Hum. Mutat.
35
1449-1458
2014
688891
Forny P.,Schnellmann A.S.,Buerer C.,Lutz S.,Fowler B.,Froese D.S.,Baumgartner M.R.
Molecular genetic characterization of 151 mut-type methylmalonic aciduria patients and identification of 41 novel mutations in MUT.
Hum. Mutat.
37
745-754
2016
688892
Imtiaz F.,Al-Mubarak B.M.,Al-Mostafa A.,Al-Hamed M.,Allam R.,Al-Hassnan Z.,Al-Owain M.,Al-Zaidan H.,Rahbeeni Z.,Qari A.,Faqeih E.A.,Alasmari A.,Al-Mutairi F.,Alfadhel M.,Eyaid W.M.,Rashed M.S.,Al-Sayed M.
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia.
JIMD Rep.
29
39-46
2016
688893
Han L.S.,Huang Z.,Han F.,Wang Y.,Gong Z.W.,Gu X.F.
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia.
World J. Pediatr.
13
381-386
2017