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
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
CCDS4924
CH471081
EAX04329
EAX04330
ENSG00000146085
ENSP00000274813
ENST00000274813
EntrezGene:4594
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
IPR016176
KU178201
M37499
M37500
M37501
M37503
M37504
M37505
M37506
M37507
M37508
M37509
M37510
M65131
M65131_rna1_at
MIM:251000
MIM:609058
MUT
MUT-201
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
L-glutamine 17 replaced with unknown
Coordinate
17
PsiMod HEY
A protein modification that effectively removes or replaces an L-glutamine.
Disease
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
UCSC human
GeneCards
DOCK Blaster
PRO
Orphanet
HMDB Protein
PDB