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
MMACHC W203* [cytosol] icon
MMACHC W203* [cytosol] icon
Locations in the PathwayBrowser
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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:ENSG00000132763.15 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
Other Identifiers
0004560603
11725013_at
1566084_at
16664091
211774_PM_s_at
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:0005515
GO:0005622
GO:0005737
GO:0005829
GO:0006575
GO:0006749
GO:0006766
GO:0006790
GO:0009235
GO:0016491
GO:0016740
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
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
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
HMDB Protein
Interactors (2)
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