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MUT A378E [mitochondrial matrix]
Stable Identifier
R-HSA-3323133
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of mitochondrial beta oxidation (Homo sapiens)
Diseases of propionyl-CoA catabolism (Homo sapiens)
Defective MUT causes MMAM (Homo sapiens)
Defective MUT does not isomerise L-MM-CoA to SUCC-CoA (Homo sapiens)
2xMMAA:mutant MUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
mutant MUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
MUT mutants [mitochondrial matrix] (Homo sapiens)
MUT A378E [mitochondrial matrix] (Homo sapiens)
External Reference Information
External Reference
UniProt:P22033 MMUT
Gene Names
MMUT, MUT
Chain
transit peptide:1-32, chain:33-750
Reference Genes
BioGPS Gene:4594 MMUT
COSMIC (genes):MMUT MMUT
CTD Gene:4594 MMUT
dbSNP Gene:4594 MMUT
ENSEMBL:ENSG00000146085 MUT
ENSEMBL_homo_sapiens_GENE:ENSG00000146085.8 MMUT
HGNC:7526 MMUT
KEGG Gene (Homo sapiens):4594 MMUT
Monarch:4594 MMUT
NCBI Gene:4594 MMUT
OMIM:609058 MMUT
UCSC:P22033 MMUT
Reference Transcript
RefSeq:XM_005249143.3 MMUT
RefSeq:NM_000255.3 MMUT
Other Identifiers
11723652_a_at
11723653_at
11758888_at
17019831
202959_PM_at
202959_at
202960_PM_s_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
2956466
2956467
40105_at
4594
62961_at
8126860
A_23_P214273
A_23_P400235
GE58043
GO:0003824
GO:0003924
GO:0004494
GO:0005515
GO:0005737
GO:0005739
GO:0005759
GO:0006520
GO:0006629
GO:0006790
GO:0009791
GO:0016787
GO:0016853
GO:0016866
GO:0019678
GO:0031419
GO:0042802
GO:0042803
GO:0043226
GO:0043547
GO:0046872
GO:0048856
GO:0050667
GO:0055086
GO:0072341
GO:1901135
GO:1901290
HMNXSV003042461
Hs.155212.0.A2_3p_at
ILMN_1785113
M65131_rna1_at
PH_hs_0009350
TC06001782.hg
g4557766_3p_a_at
Participates
as a member of
MUT mutants [mitochondrial matrix] (Homo sapiens)
Other forms of this molecule
MUT G703R [mitochondrial matrix]
MUT [mitochondrial matrix]
MUT R93H [mitochondrial matrix]
MUT W105R [mitochondrial matrix]
MUT G623R [mitochondrial matrix]
MUT R108C [mitochondrial matrix]
MUT G215S [mitochondrial matrix]
MUT N219Y [mitochondrial matrix]
MUT Q17* [mitochondrial matrix]
Modified Residues
Name
L-alanine 378 replaced with L-glutamic acid
Coordinate
378
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-glutamic acid residue [MOD:00015]
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Disease
Name
Identifier
Synonyms
methylmalonic acidemia
DOID: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
XP_005249200.1
,
NP_000246.2
OpenTargets
ENSG00000146085
GeneCards
P22033
HPA
ENSG00000146085-MMUT
Ensembl
ENSP00000274813
,
ENSG00000146085
,
ENST00000274813
PRO
P22033
Pharos - Targets
P22033
Orphanet
16489
HMDB Protein
HMDBP00257
PDB
8DYJ
,
2XIQ
,
8GJU
,
3BIC
,
2XIJ
,
8DYL
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
GTP [ChEBI:15996]
7
GTP [cilium]
(R-ALL-5617813)
GTP [early endosome membrane]
(R-ALL-2130170)
GTP [lysosomal membrane]
(R-ALL-2213216)
GTP [platelet dense granule lumen]
(R-ALL-114625)
GTP [cytoplasmic vesicle membrane]
(R-ALL-1996291)
GTP [ER to Golgi transport vesicle membrane]
(R-ALL-983318)
GTP [Golgi membrane]
(R-ALL-1806221)
0.623
2
cobamamide [ChEBI:18408]
1
AdoCbl [mitochondrial matrix]
(R-ALL-3159297)
0.611
3
UniProt:P42858 HTT
1
HTT [nucleoplasm]
(R-HSA-9023590)
0.556
12
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