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MMAB E193K [mitochondrial matrix]
Stable Identifier
R-HSA-3322150
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
mitochondrial matrix
Synonyms
Cob, MMAB_HUMAN, MMAB
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective MMAB causes MMA, cblB type (Homo sapiens)
Defective MMAB does not transfer adenosyl group from ATP to B12s (Homo sapiens)
MMAB mutants [mitochondrial matrix] (Homo sapiens)
MMAB E193K [mitochondrial matrix] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q96EY8 MMAB
Gene Names
MMAB
Chain
transit peptide:1-32, chain:33-250
Reference Genes
BioGPS Gene:326625 MMAB
COSMIC (genes):MMAB MMAB
CTD Gene:326625 MMAB
dbSNP Gene:326625 MMAB
ENSEMBL:ENSG00000139428 MMAB
HGNC:19331 MMAB
KEGG:hsa:326625 MMAB
Monarch:326625 MMAB
NCBI Gene:326625 MMAB
OMIM:607568 MMAB
UCSC:Q96EY8 MMAB
Reference Transcript
RefSeq:NM_052845.3 MMAB
Other Identifiers
11720535_a_at
11720536_at
11720537_at
11758620_s_at
16769924
16769941
225826_PM_at
225826_at
238975_PM_at
238975_at
242082_PM_at
242082_at
326625
3470826
3470828
3470830
3470832
3470833
3470834
3470840
3470842
3470843
3470844
3470845
3470846
3470847
3470848
3470849
3470850
3470851
3470852
3470853
3470854
3470855
3470856
3470858
3470859
57556_at
7966213
7966223
84592_at
A_23_P2537
A_24_P364381
A_24_P56221
A_33_P3367201
GE87173
GO:0003824
GO:0005515
GO:0005524
GO:0005739
GO:0005759
GO:0006766
GO:0008817
GO:0009235
GO:0016740
GO:0016765
GO:0031419
GO:0043226
HMNXSV003050287
Hs.12106.0.S1_3p_at
Hs.170470.0.A1_3p_at
Hs.271865.0.A1_3p_at
ILMN_1689156
ILMN_1872276
PH_hs_0001137
TC12001952.hg
TC12001953.hg
TC12003078.hg
Participates
as a member of
MMAB mutants [mitochondrial matrix] (Homo sapiens)
Other forms of this molecule
MMAB R191W [mitochondrial matrix]
MMAB R186W [mitochondrial matrix]
MMAB [mitochondrial matrix]
Modified Residues
Name
L-glutamic acid 193 replaced with L-leucine
Coordinate
193
PsiMod
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces 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
NP_443077.1
ENSEMBL
ENSP00000445920
,
ENST00000545712
OpenTargets
ENSG00000139428
HPA
ENSG00000139428-MMAB
PRO
Q96EY8
Pharos - Targets
Q96EY8
GlyGen
Q96EY8
Orphanet
MMAB
HMDB Protein
HMDBP01012
PDB
7RUV
,
7RUU
,
2IDX
,
6D5X
,
6D5K
,
7RUT
Interactors (4)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P36957 DLST
5
Lipo-K110-DLST [mitochondrial matrix]
(R-HSA-69993)
SuccinyllipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9853502)
LipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9853485)
DLST [mitochondrial matrix]
(R-HSA-6792574)
GlutaryllipoH2-K110-DLST [mitochondrial matrix]
(R-HSA-9858581)
0.556
3
UniProt:P27797 CALR
6
CALR [lumenal side of endoplasmic reticulum membrane]
(R-HSA-985502)
CALR [endoplasmic reticulum lumen]
(R-HSA-195905)
CALR [extracellular region]
(R-HSA-2197641)
CALR [endocytic vesicle lumen]
(R-HSA-2239448)
CALR [endoplasmic reticulum-Golgi intermediate compartment membrane]
(R-HSA-8863866)
CALR [phagocytic vesicle membrane]
(R-HSA-1236879)
0.556
3
UniProt:Q96CV9 OPTN
6
p-S177,S473,S513-OPTN [cytosol]
(R-HSA-9687840)
OPTN [cytosol]
(R-HSA-9687907)
p-S177-OPTN [cytosol]
(R-HSA-2562525)
p-S177-OPTN [nucleoplasm]
(R-HSA-2562595)
OPTN [Golgi membrane]
(R-HSA-2161111)
OPTN [recycling endosome membrane]
(R-HSA-8854141)
0.556
3
UniProt:P11182 DBT
11
Lipo-K105-DBT [mitochondrial matrix]
(R-HSA-70017)
Isobutyryl-lipoH2-K105-DBT [mitochondrial matrix]
(R-HSA-9859151)
Isovaleryl-lipoH2-K105-DBT [mitochondrial matrix]
(R-HSA-9859144)
2-Methylbutyryl-lipoH2-K105-DBT [mitochondrial matrix]
(R-HSA-9859145)
LipoH2-K105-DBT [mitochondrial matrix]
(R-HSA-9859167)
DBT [mitochondrial matrix]
(R-HSA-6792584)
P276C Lipo-K105-DBT [mitochondrial matrix]
(R-HSA-9865046)
S399C Lipo-K105-DBT [mitochondrial matrix]
(R-HSA-9865036)
K313_Y338del Lipo-K105-DBT [mitochondrial matrix]
(R-HSA-9865051)
I98M Lipo-K105-DBT [mitochondrial matrix]
(R-HSA-9865057)
DBT [cytosol]
(R-HSA-9714663)
0.499
3
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