Homo sapiens (human): 4594
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Entry
4594 CDS
T01001
Symbol
MMUT, MCM, MUT
Name
(RefSeq) methylmalonyl-CoA mutase
KO
K01847
methylmalonyl-CoA mutase [EC:
5.4.99.2
]
Organism
hsa
Homo sapiens (human)
Pathway
hsa00280
Valine, leucine and isoleucine degradation
hsa00630
Glyoxylate and dicarboxylate metabolism
hsa00640
Propanoate metabolism
hsa01100
Metabolic pathways
hsa01200
Carbon metabolism
hsa04980
Cobalamin transport and metabolism
Module
hsa_M00741
Propanoyl-CoA metabolism, propanoyl-CoA => succinyl-CoA
Network
nt06024
Valine, leucine and isoleucine degradation
nt06538
Cobalamin transport and metabolism
Element
N00842
Propanoyl-CoA metabolism
N01811
Mitochondrial adenocylation of cobalamin and loading onto MMUT
Disease
H00174
Methylmalonic aciduria
H01400
Secondary hyperammonemia
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09100 Metabolism
09101 Carbohydrate metabolism
00630 Glyoxylate and dicarboxylate metabolism
4594 (MMUT)
00640 Propanoate metabolism
4594 (MMUT)
09105 Amino acid metabolism
00280 Valine, leucine and isoleucine degradation
4594 (MMUT)
09150 Organismal Systems
09154 Digestive system
04980 Cobalamin transport and metabolism
4594 (MMUT)
Enzymes [BR:
hsa01000
]
5. Isomerases
5.4 Intramolecular transferases
5.4.99 Transferring other groups
5.4.99.2 methylmalonyl-CoA mutase
4594 (MMUT)
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SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
MM_CoA_mutase
B12-binding
Motif
Other DBs
NCBI-GeneID:
4594
NCBI-ProteinID:
NP_000246
OMIM:
609058
HGNC:
7526
Ensembl:
ENSG00000146085
UniProt:
P22033
A0A024RD82
B2R6K1
Structure
PDB
LinkDB
All DBs
Position
6:complement(49430360..49463253)
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AA seq
750 aa
AA seq
DB search
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI
WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN
KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE
KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE
FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE
QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC
AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA
IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ
AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV
NT seq
2253 nt
NT seq
+upstream
nt +downstream
nt
atgttaagagctaagaatcagctttttttactttcacctcattacctgaggcaggtaaaa
gaatcatcaggctccaggctcatacagcaacgacttctacaccagcaacagccccttcac
ccagaatgggctgccctggctaaaaagcagctgaaaggcaaaaacccagaagacctaata
tggcacaccccggaagggatctctataaaacccttgtattccaagagagatactatggac
ttacctgaagaacttccaggagtgaagccattcacacgtggaccatatcctaccatgtat
acctttaggccctggaccatccgccagtatgctggttttagtactgtggaagaaagcaat
aagttctataaggacaacattaaggctggtcagcagggattatcagttgcctttgatctg
gcgacacatcgtggctatgattcagacaaccctcgagttcgtggtgatgttggaatggct
ggagttgctattgacactgtggaagataccaaaattctttttgatggaattcctttagaa
aaaatgtcagtttccatgactatgaatggagcagttattccagttcttgcaaattttata
gtaactggagaagaacaaggtgtacctaaagagaagcttactggtaccatccaaaatgat
atactaaaggaatttatggttcgaaatacatacatttttcctccagaaccatccatgaaa
attattgctgacatatttgaatatacagcaaagcacatgccaaaatttaattcaatttca
attagtggataccatatgcaggaagcaggggctgatgccattctggagctggcctatact
ttagcagatggattggagtactctagaactggactccaggctggcctgacaattgatgaa
tttgcaccaaggttgtctttcttctggggaattggaatgaatttctatatggaaatagca
aagatgagagctggtagaagactctgggctcacttaatagagaaaatgtttcagcctaaa
aactcaaaatctcttcttctaagagcacactgtcagacatctggatggtcacttactgag
caggatccctacaataatattgtccgtactgcaatagaagcaatggcagcagtatttgga
gggactcagtctttgcacacaaattcttttgatgaagctttgggtttgccaactgtgaaa
agtgctcgaattgccaggaacacacaaatcatcattcaagaagaatctgggattcccaaa
gtggctgatccttggggaggttcttacatgatggaatgtctcacaaatgatgtttatgat
gctgctttaaagctcattaatgaaattgaagaaatgggtggaatggccaaagctgtagct
gagggaatacctaaacttcgaattgaagaatgtgctgcccgaagacaagctagaatagat
tctggttctgaagtaattgttggagtaaataagtaccagttggaaaaagaagacgctgta
gaagttctggcaattgataatacttcagtgcgaaacaggcagattgaaaaacttaagaag
atcaaatccagcagggatcaagctttggctgaacgttgtcttgctgcactaaccgaatgt
gctgctagcggagatggaaatatcctggctcttgcagtggatgcatctcgggcaagatgt
acagtgggagaaatcacagatgccctgaaaaaggtatttggtgaacataaagcgaatgat
cgaatggtgagtggagcatatcgccaggaatttggagaaagtaaagagataacatctgct
atcaagagggttcataaattcatggaacgtgaaggtcgcagacctcgtcttcttgtagca
aaaatgggacaagatggccatgacagaggagcaaaagttattgctacaggatttgctgat
cttggttttgatgtggacataggccctcttttccagactcctcgtgaagtggcccagcag
gctgtggatgcggatgtgcatgctgtgggcataagcaccctcgctgctggtcataaaacc
ctagttcctgaactcatcaaagaacttaactcccttggacggccagatattcttgtcatg
tgtggaggggtgataccacctcaggattatgaatttctgtttgaagttggtgtttccaat
gtatttggtcctgggactcgaattccaaaggctgccgttcaggtgcttgatgatattgag
aagtgtttggaaaagaagcagcaatctgtataa
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