Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
MTR H920D [cytosol]
Stable Identifier
R-HSA-3321914
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Methionine synthase
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 methylmalonic aciduria and homocystinuria type cblG (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 H920D [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 H920D [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 Gene (Homo sapiens):4548 MTR
Monarch:4548 MTR
NCBI Gene:4548 MTR
OMIM:156570 MTR
UCSC:Q99707 MTR
Reference Transcript
RefSeq:NM_000254.2 MTR
RefSeq:NM_001291940.1 MTR
RefSeq:NM_001291939.1 MTR
Other Identifiers
0001090731
11739412_a_at
11739413_at
11751961_s_at
11751974_a_at
11756051_a_at
16679094
203774_at
226969_at
2387007
2387008
2387009
2387014
2387015
2387016
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
2387064
2387067
2387069
2387072
2387073
2387074
2387075
2387076
2387081
2387082
2387083
2387085
38383_at
44615_at
4548
75377_at
7910752
A_14_P132244
A_23_P200930
A_23_P200936
A_24_P67806
A_33_P3389917
GE80903
GO:0000096
GO:0003674
GO:0005515
GO:0005575
GO:0005622
GO:0005737
GO:0005829
GO:0006520
GO:0006790
GO:0006950
GO:0007399
GO:0008150
GO:0008168
GO:0008270
GO:0008652
GO:0008705
GO:0009058
GO:0009086
GO:0009235
GO:0016740
GO:0030154
GO:0031103
GO:0031419
GO:0032259
GO:0042558
GO:0043167
GO:0044237
GO:0044281
GO:0046872
GO:0048678
GO:0048856
GO:0051186
GO:0071732
Hs.33264.0.A1_3p_at
ILMN_1670801
ILMN_1815141
PH_hs_0040560
TC01001956.hg
TC01005133.hg
U73338_at
g4557764_3p_at
Participant Of
hasMember
MTR mutants [cytosol]
Other forms of this molecule
MTR R585* [cytosol]
MTR P1173L [cytosol]
MTR Ile881 [cytosol]
MTR A410P [cytosol]
MTR E1204* [cytosol]
MTR [cytosol]
Modified Residues
Name
L-histidine 920 replaced with L-aspartic acid
Coordinate
920
PsiMod
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
L-aspartic acid residue [MOD:00013]
A protein modification that effectively converts a source amino acid residue to an L-aspartic acid.
Disease
Name
Identifier
Synonyms
methylmalonic aciduria and homocystinuria type cblG
0050733
Cross References
RefSeq
NP_001278869.1
,
NP_000245.2
,
NP_001278868.1
OpenTargets
ENSG00000116984
GeneCards
Q99707
ZINC - Substances
METH_HUMAN
HPA
ENSG00000116984-MTR
Ensembl
ENSG00000116984
,
ENSP00000441845
,
ENSP00000355536
,
ENST00000366577
,
ENST00000535889
ZINC target
Q99707
PRO
Q99707
Orphanet
16485
ZINC - Predictions - Purchasable
METH_HUMAN
HMDB Protein
HMDBP00160
PDB
4CCZ
,
2O2K
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q9Y4U1 MMACHC
6
MMACHC R91Kfs*14 [cytosol]
(R-HSA-3318604)
MMACHC R132* [cytosol]
(R-HSA-3318572)
MMACHC W203* [cytosol]
(R-HSA-3928672)
MMACHC R161Q [cytosol]
(R-HSA-3318613)
MMACHC R111* [cytosol]
(R-HSA-3318593)
MMACHC [cytosol]
(R-HSA-2980949)
0.524
3
© 2021
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text