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MMACHC [cytosol]
Stable Identifier
R-HSA-2980949
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methylmalonic aciduria and homocystinuria type C protein, MMAC_HUMAN
Locations in the PathwayBrowser for interactor glutathione [ChEBI:16856]
Expand all
Metabolism (Homo sapiens)
Metabolism of vitamins and cofactors (Homo sapiens)
Metabolism of water-soluble vitamins and cofactors (Homo sapiens)
Cobalamin (Cbl, vitamin B12) transport and metabolism (Homo sapiens)
MMACHC decyanates CNCbl (Homo sapiens)
MMACHC [cytosol] (Homo sapiens)
MMACHC reduces Cbl (Homo sapiens)
MMACHC [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
input
MMACHC decyanates CNCbl
MMACHC reduces Cbl
hasComponent
MMACHC:cob(II)alamin [cytosol]
MMACHC:MMADHC [cytosol]
Other forms of this molecule
MMACHC R132* [cytosol]
MMACHC R91Kfs*14 [cytosol]
MMACHC W203* [cytosol]
MMACHC R161Q [cytosol]
MMACHC R111* [cytosol]
Inferred To
MMACHC [cytosol] (Bos taurus)
MMACHC [cytosol] (Canis familiaris)
MMACHC [cytosol] (Dictyostelium discoideum)
MMACHC [cytosol] (Gallus gallus)
MMACHC [cytosol] (Sus scrofa)
MMACHC [cytosol] (Xenopus tropicalis)
cblc-1 [cytosol] (Caenorhabditis elegans)
mmachc [cytosol] (Danio rerio)
Mmachc [cytosol] (Mus musculus)
Mmachc [cytosol] (Rattus norvegicus)
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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