MAT1A V348Gfs*3

Stable Identifier
R-HSA-5603112
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
00270+2.5.1.6
11724627_a_at
11724628_a_at
16716063
205813_s_at
2OBV
32003_at
3297635
3297636
3297637
3297638
3297639
3297640
3297641
3297642
3297643
3297644
3297646
3297649
3297653
3297654
3297656
3297660
3297661
3297662
3297663
4143
48627
54924_at
7934755
A_23_P23996
AAH18359
AL359195
B1ANE6
BAA08355
BC018359
CAA48822
CCDS7365
CH471142
D49357
D49357_at
EAW80396
EAW80397
ENSG00000151224
ENSP00000361287
ENST00000372213
EntrezGene:4143
g4557736_3p_a_at
GE58219
GO:0000096
GO:0000166
GO:0001887
GO:0003674
GO:0004478
GO:0005524
GO:0005575
GO:0005622
GO:0005623
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
GO:0098601
HGNC:6903
HPA048627
ILMN_1767657
IPR002133
IPR022628
IPR022629
IPR022630
IPR022631
IPR022636
MAT1A
MAT1A-201
MIM:250850
MIM:610550
NM_000429
NP_000420
PF00438
PF02772
PF02773
PH_hs_0016112
TC10001462.hg
uc001kbw.4
UPI000012EFF3
X69078
XM_005269842
XM_005269843
XP_005269899
XP_005269900
Participant Of
Other forms of this molecule
Modified Residues
Name
Replacement of residues 348 to 349 by GA
Disease
Name Identifier Synonyms
hypermethioninemia 0050544 HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
Cross References
GeneCards
PRO
BRENDA (Homo sapiens)
Orphanet
PDB
HMDB Protein