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MMACHC W203* [cytosol]
Stable Identifier
R-HSA-3928672
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methylmalonic aciduria and homocystinuria type C protein, MMAC_HUMAN, MMACHC
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 MMACHC causes methylmalonic aciduria and homocystinuria type cblC (Homo sapiens)
Defective MMACHC does not decyanate CNCbl (Homo sapiens)
MMACHC mutants [cytosol] (Homo sapiens)
MMACHC W203* [cytosol] (Homo sapiens)
Defective MMACHC does not reduce Cbl (Homo sapiens)
MMACHC mutants [cytosol] (Homo sapiens)
MMACHC W203* [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9Y4U1 MMACHC
Gene Names
MMACHC
Chain
chain:1-282
Reference Genes
BioGPS Gene:25974 MMACHC
COSMIC (genes):MMACHC MMACHC
CTD Gene:25974 MMACHC
dbSNP Gene:25974 MMACHC
ENSEMBL:ENSG00000132763 MMACHC
HGNC:24525 MMACHC
KEGG Gene (Homo sapiens):25974 MMACHC
Monarch:25974 MMACHC
NCBI Gene:25974 MMACHC
OMIM:609831 MMACHC
UCSC:Q9Y4U1 MMACHC
Reference Transcript
RefSeq:NM_015506.2 MMACHC
RefSeq:NM_001330540.1 MMACHC
Other Identifiers
0004560603
11725013_at
1566084_at
16664091
211774_s_at
2334353
2334355
2334356
2334357
2334358
2334359
2334360
2334361
2334362
2334363
2334364
2334365
2334366
2334367
2334368
2334369
2334371
25974
37832_at
7901102
A_23_P418282
A_24_P83586
A_33_P3390643
GE900201
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0006749
GO:0006790
GO:0008150
GO:0009235
GO:0016491
GO:0016740
GO:0031419
GO:0032451
GO:0033787
GO:0034641
GO:0042803
GO:0043167
GO:0043295
GO:0044281
GO:0051186
GO:0055114
GO:0070988
GO:0071949
Hs2.33074.1.S1_3p_at
ILMN_1803005
PH_hs_0001253
TC01000573.hg
g13543966_3p_s_at
Participant Of
hasMember
MMACHC mutants [cytosol]
Other forms of this molecule
MMACHC R132* [cytosol]
MMACHC R91Kfs*14 [cytosol]
MMACHC R161Q [cytosol]
MMACHC R111* [cytosol]
MMACHC [cytosol]
Modified Residues
Name
L-tryptophan 203 replaced with unknown
Coordinate
203
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
Disease
Name
Identifier
Synonyms
methylmalonic aciduria and homocystinuria type cblC
0050715
Cobalamin C deficiency
Cross References
RefSeq
NP_056321.2
,
NP_001317469.1
OpenTargets
ENSG00000132763
IntEnz
1.16.1.6
,
2.5.1.151
GeneCards
Q9Y4U1
HPA
ENSG00000132763-MMACHC
Ensembl
ENST00000401061
,
ENSG00000132763
,
ENSP00000383840
PRO
Q9Y4U1
Orphanet
16451
HMDB Protein
HMDBP10724
PDB
5UOS
,
3SBZ
,
3SC0
,
3SBY
,
3SOM
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
glutathione [ChEBI:16856]
6
GSH [endoplasmic reticulum lumen]
(R-ALL-158543)
GSH [endoplasmic reticulum membrane]
(R-ALL-2239524)
GSH [periplasmic space]
(R-ALL-1500783)
GSH [mitochondrial matrix]
(R-ALL-1655887)
GSH [extracellular region]
(R-ALL-1247892)
GSH [cytosol]
(R-ALL-29450)
0.655
5
UniProt:Q99707 MTR
7
MTR P1173L [cytosol]
(R-HSA-3321944)
MTR R585* [cytosol]
(R-HSA-3321933)
MTR H920D [cytosol]
(R-HSA-3321914)
MTR Ile881 [cytosol]
(R-HSA-3321942)
MTR A410P [cytosol]
(R-HSA-3321921)
MTR E1204* [cytosol]
(R-HSA-3321920)
MTR [cytosol]
(R-HSA-174376)
0.524
3
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