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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
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 MMACHC causes MAHCC (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:hsa:25974 MMACHC
Monarch:25974 MMACHC
NCBI Gene:25974 MMACHC
OMIM:609831 MMACHC
UCSC:Q9Y4U1 MMACHC
Reference Transcript
RefSeq:NM_001330540.1 MMACHC
RefSeq:NM_015506.2 MMACHC
Other Identifiers
11725013_at
1566084_at
16664091
211774_PM_s_at
211774_s_at
2334352
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:0003824
GO:0005515
GO:0005737
GO:0005829
GO:0006575
GO:0006749
GO:0006766
GO:0006790
GO:0009235
GO:0016491
GO:0016740
GO:0016765
GO:0031419
GO:0032451
GO:0033787
GO:0042803
GO:0043295
GO:0070988
GO:0071949
HMNXSV003022083
Hs2.33074.1.S1_3p_at
ILMN_1803005
PH_hs_0001253
TC01000573.hg
g13543966_3p_s_at
Participates
as a member of
MMACHC mutants [cytosol] (Homo sapiens)
Other forms of this molecule
MMACHC R132* [cytosol]
MMACHC R91Kfs*14 [cytosol]
MMACHC R161Q [cytosol]
MMACHC R111* [cytosol]
MMACHC [cytosol]
Modified Residues
Name
Nonsense mutation at L-tryptophan 203
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
DOID:0050715
Cobalamin C deficiency
Cross References
RefSeq
NP_001317469.1
,
NP_056321.2
ENSEMBL
ENST00000401061
,
ENSP00000383840
OpenTargets
ENSG00000132763
IntEnz
1.16.1.6
,
2.5.1.151
HPA
ENSG00000132763-MMACHC
PRO
Q9Y4U1
Pharos - Targets
Q9Y4U1
Orphanet
MMACHC
HMDB Protein
HMDBP10724
PDB
3SOM
,
3SC0
,
7WUZ
,
3SBZ
,
5UOS
,
3SBY
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
glutathione [ChEBI:16856]
5
GSH [endoplasmic reticulum membrane]
(R-ALL-2239524)
GSH [endoplasmic reticulum lumen]
(R-ALL-158543)
GSH [periplasmic space]
(R-ALL-1500783)
GSH [extracellular region]
(R-ALL-1247892)
GSH [mitochondrial matrix]
(R-ALL-1655887)
0.655
5
UniProt:Q92526 CCT6B
1
CCT6B [cytosol]
(R-HSA-5216201)
0.499
3
UniProt:Q99707 MTR
7
MTR R585* [cytosol]
(R-HSA-3321933)
MTR P1173L [cytosol]
(R-HSA-3321944)
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)
0.471
3
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