KEGG H.sapiens: 4594

Homo sapiens (human): 4594

Entry

4594 CDS H.sapiens

Gene name MUT

Definition methylmalonyl Coenzyme A mutase (EC:5.4.99.2)

Orthology K01847 methylmalonyl-CoA mutase [EC:5.4.99.2]

Pathway hsa00280 Valine, leucine and isoleucine degradation
hsa00640 Propanoate metabolism
hsa01100 Metabolic pathways

Disease H00174 Methylmalonic aciduria (MMA)

Class Metabolism; Carbohydrate Metabolism; Propanoate metabolism
[PATH:hsa00640]
Metabolism; Amino Acid Metabolism; Valine, leucine and isoleucine
degradation [PATH:hsa00280]

SSDB

Motif Pfam: MM_CoA_mutase B12-binding
PROSITE: METMALONYL_COA_MUTASE

Other DBs NCBI-GI: 156105689
NCBI-GeneID: 4594
OMIM: 609058
HGNC: 7526
HPRD: 02014
Ensembl: ENSG00000146085
UniProt: P22033

Structure

PDB: 3BIC

Position 6p12.3

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

Pathway (3)   
   KEGG PATHWAY (3)   
Disease (2)   
   KEGG DISEASE (1)   
   OMIM (1)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (12)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (6)   
   UNIGENE (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (1)   
   IPI (1)   
DNA sequence (7)   
   RefSeq(nuc) (1)   
   GenBank (3)   
   EMBL (3)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (2)   
   PROSITE (1)   
All databases (33)

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