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MTR E1204* [cytosol]
Stable Identifier
R-HSA-3321920
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methionine synthase
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 MTR causes HMAG (Homo sapiens)
Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin (Homo sapiens)
MTRR:mutant MTR(cob(I)alamin) [cytosol] (Homo sapiens)
mutant MTR:Zn2+:cob(I)alamin [cytosol] (Homo sapiens)
MTR mutants [cytosol] (Homo sapiens)
MTR E1204* [cytosol] (Homo sapiens)
Defective MTR does not transfer CH3 group from MeCbl to HCYS (Homo sapiens)
MTRR:mutant MTR(MeCbl) [cytosol] (Homo sapiens)
mutant MTR:Zn2+:MeCbl [cytosol] (Homo sapiens)
MTR mutants [cytosol] (Homo sapiens)
MTR E1204* [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q99707 MTR
Gene Names
MTR
Chain
chain:1-1265
Reference Genes
BioGPS Gene:4548 MTR
COSMIC (genes):MTR MTR
CTD Gene:4548 MTR
dbSNP Gene:4548 MTR
ENSEMBL:ENSG00000116984 MTR
HGNC:7468 MTR
KEGG:hsa:4548 MTR
Monarch:4548 MTR
NCBI Gene:4548 MTR
OMIM:156570 MTR
UCSC:Q99707 MTR
Reference Transcript
RefSeq:NM_001291939.1 MTR
RefSeq:NM_001291940.1 MTR
RefSeq:NM_000254.2 MTR
Other Identifiers
11739412_a_at
11739413_at
11751961_s_at
11751974_a_at
11756051_a_at
16679094
16679136
203774_PM_at
203774_at
226969_PM_at
226969_at
2387007
2387008
2387009
2387014
2387015
2387016
2387017
2387018
2387019
2387020
2387021
2387029
2387030
2387031
2387032
2387035
2387037
2387038
2387039
2387040
2387044
2387045
2387046
2387048
2387049
2387050
2387051
2387054
2387055
2387057
2387060
2387061
2387062
2387063
2387064
2387067
2387068
2387069
2387070
2387071
2387072
2387073
2387074
2387075
2387076
2387081
2387082
2387083
2387085
2387087
2387089
2387091
38383_at
44615_at
4548
75377_at
7910752
A_14_P132244
A_19_P00810526
A_21_P0001716
A_23_P200930
A_23_P200936
A_24_P67806
A_33_P3389917
GE80903
GO:0000096
GO:0003824
GO:0005515
GO:0005737
GO:0005829
GO:0006520
GO:0006575
GO:0006766
GO:0006790
GO:0007399
GO:0008168
GO:0008172
GO:0008270
GO:0008705
GO:0009086
GO:0009235
GO:0016740
GO:0031103
GO:0031419
GO:0032259
GO:0042558
GO:0044237
GO:0046653
GO:0046872
GO:0048678
GO:0048856
GO:0050667
GO:0071732
HMNXSV003018013
HMNXSV003027203
HMNXSV003030237
Hs.33264.0.A1_3p_at
ILMN_1670801
ILMN_1815141
PH_hs_0040560
TC01001956.hg
TC01005133.hg
TC01005134.hg
U73338_at
g4557764_3p_at
p17876
Participates
as a member of
MTR mutants [cytosol] (Homo sapiens)
Other forms of this molecule
MTR R585* [cytosol]
MTR P1173L [cytosol]
MTR H920D [cytosol]
MTR Ile881 [cytosol]
MTR A410P [cytosol]
MTR [cytosol]
Modified Residues
Name
Nonsense mutation at L-glutamic acid 1204
Coordinate
1204
PsiMod
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name
Identifier
Synonyms
methylmalonic aciduria and homocystinuria type cblG
DOID:0050733
Cross References
RefSeq
NP_001278868.1
,
NP_001278869.1
,
NP_000245.2
Guide to Pharmacology - Targets
3099
ENSEMBL
ENSP00000355536
,
ENSP00000441845
,
ENST00000535889
,
ENST00000366577
OpenTargets
ENSG00000116984
ZINC - Substances
METH_HUMAN
ZINC target
Q99707
PRO
Q99707
GlyGen
Q99707
PDB
2O2K
,
4CCZ
HPA
ENSG00000116984-MTR
Pharos - Targets
Q99707
Orphanet
MTR
ZINC - Predictions - Purchasable
METH_HUMAN
HMDB Protein
HMDBP00160
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9Y4U1 MMACHC
6
MMACHC R132* [cytosol]
(R-HSA-3318572)
MMACHC R91Kfs*14 [cytosol]
(R-HSA-3318604)
MMACHC W203* [cytosol]
(R-HSA-3928672)
MMACHC R161Q [cytosol]
(R-HSA-3318613)
MMACHC R111* [cytosol]
(R-HSA-3318593)
MMACHC [cytosol]
(R-HSA-2980949)
0.471
3
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