Reactome: A Curated Pathway Database

MUT Q17*

Stable Identifier
R-HSA-3323178
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
Reference Transcript
Other Identifiers
 0006380484  11723652_a_at  11723653_at  11758888_at  17019831
 202959_at  202960_s_at  2956439  2956440  2956441
 2956442  2956443  2956444  2956445  2956447
 2956449  2956451  2956452  2956453  2956454
 2956455  2956457  2956458  2956459  2956460
 2956461  2956462  2956463  2956465  2XIJ
 2XIQ  35971  35972  3BIC  40105_at
 4594  62961_at  8126860  A0A024RD82  A_23_P214273
 A_23_P400235  AAA59569  AAA99226  AAH16282  AAP36102
 AK292568  AL590668  ALQ33659  BAF85257  BC016282
 BT007434  CAI14311  CCDS4924  CH471081  EAX04329
 EAX04330  ENSG00000146085  ENSP00000274813  ENST00000274813  g4557766_3p_a_at
 GE58043  GO:0003674  GO:0003824  GO:0004494  GO:0005575
 GO:0005622  GO:0005623  GO:0005737  GO:0005739  GO:0005759
 GO:0006520  GO:0006629  GO:0006790  GO:0008150  GO:0008152
 GO:0009056  GO:0009235  GO:0009791  GO:0016853  GO:0016866
 GO:0019626  GO:0031419  GO:0043167  GO:0043226  GO:0044281
 GO:0046872  GO:0048856  GO:0050667  GO:0072341  HGNC:7526
 HPA035971  HPA035972  Hs.155212.0.A2_3p_at  Hs.485527  ILMN_1785113
 IPR006098  IPR006099  IPR006158  IPR006159  IPR014348
 IPR016176  KU178201  M37499  M37500  M37501
 M37503  M37504  M37505  M37506  M37507
 M37508  M37509  M37510  M65131  M65131_rna1_at
 MIM:251000  MIM:609058  MUT  MUT-201  NCBI Gene:4594
 NM_000255  NP_000246  PF01642  PF02310  PH_hs_0009350
 TC06001782.hg  uc003ozg.5  UPI000013DA28  XM_005249143  XP_005249200
Participant Of
Other forms of this molecule
Modified Residues
Name Coordinate Modification PsiMod
L-glutamine 17 replaced with unknown 17
L-glutamine removal [MOD:01637] A protein modification that effectively removes or replaces an L-glutamine.
Disease
Diseases
Name Identifier Synonyms
methylmalonic acidemia 14749 METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
Cross References
RefSeq
UCSC human
GeneCards
DOCK Blaster
PRO
HMDB_protein
Protein Data Bank