KEGG   Homo sapiens (human): 4594
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)
SSDB
Motif
Pfam: MM_CoA_mutase B12-binding
Other DBs
NCBI-GeneID: 4594
NCBI-ProteinID: NP_000246
OMIM: 609058
HGNC: 7526
Ensembl: ENSG00000146085
UniProt: P22033 A0A024RD82 B2R6K1
Structure
Position
6:complement(49430360..49463253)
AA seq 750 aa
MLRAKNQLFLLSPHYLRQVKESSGSRLIQQRLLHQQQPLHPEWAALAKKQLKGKNPEDLI
WHTPEGISIKPLYSKRDTMDLPEELPGVKPFTRGPYPTMYTFRPWTIRQYAGFSTVEESN
KFYKDNIKAGQQGLSVAFDLATHRGYDSDNPRVRGDVGMAGVAIDTVEDTKILFDGIPLE
KMSVSMTMNGAVIPVLANFIVTGEEQGVPKEKLTGTIQNDILKEFMVRNTYIFPPEPSMK
IIADIFEYTAKHMPKFNSISISGYHMQEAGADAILELAYTLADGLEYSRTGLQAGLTIDE
FAPRLSFFWGIGMNFYMEIAKMRAGRRLWAHLIEKMFQPKNSKSLLLRAHCQTSGWSLTE
QDPYNNIVRTAIEAMAAVFGGTQSLHTNSFDEALGLPTVKSARIARNTQIIIQEESGIPK
VADPWGGSYMMECLTNDVYDAALKLINEIEEMGGMAKAVAEGIPKLRIEECAARRQARID
SGSEVIVGVNKYQLEKEDAVEVLAIDNTSVRNRQIEKLKKIKSSRDQALAERCLAALTEC
AASGDGNILALAVDASRARCTVGEITDALKKVFGEHKANDRMVSGAYRQEFGESKEITSA
IKRVHKFMEREGRRPRLLVAKMGQDGHDRGAKVIATGFADLGFDVDIGPLFQTPREVAQQ
AVDADVHAVGISTLAAGHKTLVPELIKELNSLGRPDILVMCGGVIPPQDYEFLFEVGVSN
VFGPGTRIPKAAVQVLDDIEKCLEKKQQSV
NT seq 2253 nt   +upstreamnt  +downstreamnt
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

  All links  
Disease (2)   
   OMIM (2)   
Gene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (3)   
   OC (1)   
Protein sequence (7)   
   UniProt (3)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (53)   
   RefSeq(nuc) (3)   
   GenBank (25)   
   EMBL (25)   
3D Structure (6)   
   PDB (6)   
Protein domain (2)   
   Pfam (2)   
All databases (78)   

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