Reactome | MAT1A V348Gfs*3 [cytosol]

MAT1A V348Gfs*3 [cytosol]

Stable Identifier

R-HSA-5603112

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

cytosol

Synonyms

MAT I/III

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Metabolic disorders of biological oxidation enzymes (Homo sapiens)
    - Defective MAT1A causes MATD (Homo sapiens)
      - Defective MAT1A does not transfer Ado from ATP to L-Met (Homo sapiens)
        
        MAT1A mutant multimers [cytosol] (Homo sapiens)
        
        MAT1A mutants:K+:2Mg2+ dimer [cytosol] (Homo sapiens)
        
        MAT1A mutants:K+:2Mg2+ [cytosol] (Homo sapiens)
        
        MAT1A mutants [cytosol] (Homo sapiens)
        
        MAT1A V348Gfs*3 [cytosol] (Homo sapiens)
        
        MAT1A mutants:K+:2Mg2+ tetramer [cytosol] (Homo sapiens)
        
        MAT1A mutants:K+:2Mg2+ [cytosol] (Homo sapiens)
        
        MAT1A mutants [cytosol] (Homo sapiens)
        
        MAT1A V348Gfs*3 [cytosol] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q00266 MAT1A

Gene Names

MAT1A, AMS1, MATA1

Chain

chain:1-395

Reference Genes

BioGPS Gene:4143 MAT1A

COSMIC (genes):MAT1A MAT1A

CTD Gene:4143 MAT1A

dbSNP Gene:4143 MAT1A

ENSEMBL:ENSG00000151224 MAT1A

HGNC:6903 MAT1A

KEGG:hsa:4143 MAT1A

Monarch:4143 MAT1A

NCBI Gene:4143 MAT1A

OMIM:610550 MAT1A

UCSC:Q00266 MAT1A

Reference Transcript

Other Identifiers

11724627_a_at

11724628_a_at

16716063

205813_PM_s_at

205813_s_at

32003_at

3297635

3297636

3297637

3297638

3297639

3297640

3297641

3297642

3297643

3297644

3297646

3297649

3297650

3297651

3297652

3297653

3297654

3297656

3297660

3297661

3297662

3297663

3297664

4143

54924_at

7934755

88018_at

A_23_P23996

D49357_at

GE58219

GO:0003824

GO:0004478

GO:0005515

GO:0005524

GO:0005829

GO:0006520

GO:0006556

GO:0006730

GO:0006790

GO:0009087

GO:0016740

GO:0042802

GO:0046872

GO:0048269

GO:0051289

GO:0065003

HMNXSV003039425

ILMN_1767657

PH_hs_0016112

TC10001462.hg

g4557736_3p_a_at

Participates

as a member of

MAT1A mutants [cytosol] (Homo sapiens)

Other forms of this molecule

MAT1A H277Afs*75 [cytosol]

MAT1A K181Vfs*5 [cytosol]

MAT1A [cytosol]

Modified Residues

Name

Replacement of residues 348 to 349 by GA

Disease

Name	Identifier	Synonyms
hypermethioninemia	DOID:0050544	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY

Cross References

RefSeq

XP_005269899.1, NP_000420.1

ENSEMBL

ENSP00000361287, ENST00000372213

OpenTargets

ENSG00000151224

IntEnz

2.5.1.6

HPA

ENSG00000151224-MAT1A

PRO

Q00266

Pharos - Targets

Q00266

Orphanet

MAT1A

HMDB Protein

HMDBP00418

PDB

6SW6, 2OBV, 6SW5, 8SWA

Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05067 APP	20	APP(672-713) [extracellular region] (R-HSA-879340) APP(672-711) [cytosol] (R-HSA-877188) APP(672-711) [extracellular region] (R-HSA-976740) APP [endoplasmic reticulum lumen] (R-HSA-8956696) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP(18-770) [endosome lumen] (R-HSA-5229077) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-687) [extracellular region] (R-HSA-9010033) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-770) [extracellular region] (R-HSA-49335) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	3