MAT1A K181Vfs*5 [cytosol]

Stable Identifier
R-HSA-5603077
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
MAT I/III
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
MAT1A, AMS1, MATA1
Chain
chain:1-395
Other Identifiers
0002450332
11724627_a_at
11724628_a_at
16716063
205813_s_at
32003_at
3297635
3297636
3297637
3297638
3297639
3297640
3297641
3297642
3297643
3297644
3297646
3297649
3297653
3297654
3297656
3297660
3297661
3297662
3297663
3297664
4143
54924_at
7934755
88018_at
A_23_P23996
D49357_at
GE58219
GO:0000096
GO:0000166
GO:0001887
GO:0003674
GO:0004478
GO:0005515
GO:0005524
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0006520
GO:0006556
GO:0006730
GO:0006790
GO:0008150
GO:0009056
GO:0009058
GO:0009087
GO:0016740
GO:0016765
GO:0022607
GO:0032259
GO:0042802
GO:0043167
GO:0044281
GO:0046872
GO:0051186
GO:0051289
GO:0065003
ILMN_1767657
PH_hs_0016112
TC10001462.hg
g4557736_3p_a_at
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 181 to 184 by VRLR
Disease
Name Identifier Synonyms
hypermethioninemia 0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Cross References
OpenTargets
IntEnz
GeneCards
PRO
Orphanet
PDB
HMDB Protein
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