Reactome | MMAA [mitochondrial matrix]

MMAA [mitochondrial matrix]

Stable Identifier

R-HSA-2980907

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

Methylmalonic aciduria type A protein, mitochondrial ecNumber3.6.-.-/ecNumber, MMAA_HUMAN

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Metabolism (Homo sapiens)

- Metabolism of lipids (Homo sapiens)
  - Fatty acid metabolism (Homo sapiens)
    - Mitochondrial Fatty Acid Beta-Oxidation (Homo sapiens)
      - Propionyl-CoA catabolism (Homo sapiens)
        
        MUT isomerises L-MM-CoA to SUCC-CoA (Homo sapiens)
        
        2xMMAA:2xMUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA:2xMUT [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA [mitochondrial matrix] (Homo sapiens)
        
        MMAA [mitochondrial matrix] (Homo sapiens)
- Metabolism of vitamins and cofactors (Homo sapiens)
  - Metabolism of water-soluble vitamins and cofactors (Homo sapiens)
    - Cobalamin (Cbl, vitamin B12) transport and metabolism (Homo sapiens)
      - Cobalamin (Cbl) metabolism (Homo sapiens)
        
        MMAA:MUT binds AdoCbl (Homo sapiens)
        
        2xMMAA:2xMUT [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA [mitochondrial matrix] (Homo sapiens)
        
        MMAA [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA:2xMUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA:2xMUT [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA [mitochondrial matrix] (Homo sapiens)
        
        MMAA [mitochondrial matrix] (Homo sapiens)
        
        MMAA [mitochondrial matrix] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q8IVH4 MMAA

Gene Names

MMAA

Chain

transit peptide:1-65, chain:66-418

Reference Genes

BioGPS Gene:166785 MMAA

COSMIC (genes):MMAA MMAA

CTD Gene:166785 MMAA

dbSNP Gene:166785 MMAA

ENSEMBL:ENSG00000151611 MMAA

HGNC:18871 MMAA

KEGG:hsa:166785 MMAA

Monarch:166785 MMAA

NCBI Gene:166785 MMAA

OMIM:607481 MMAA

UCSC:Q8IVH4 MMAA

Reference Transcript

Other Identifiers

105377467

11735204_a_at

11735205_s_at

11735206_at

166785

16971191

16971195

236347_PM_at

236347_at

237831_PM_x_at

237831_x_at

239852_PM_at

239852_at

242702_PM_at

242702_at

242750_PM_at

242750_at

2746161

2746162

2746163

2746165

2746166

2746167

2746168

2746169

2746170

2746172

2746173

2746174

2746175

2746176

2746177

2746178

2746179

2746180

2746182

2746184

3277600

48455_r_at

51941_at

76909_at

8097670

81239_at

87216_at

87219_s_at

A_14_P137103

A_21_P0003411

A_21_P0003660

A_23_P144357

A_33_P3405168

GE511633

GE618597

GE648091

GE709980

GO:0003824

GO:0003924

GO:0005515

GO:0005525

GO:0005737

GO:0005739

GO:0005759

GO:0005829

GO:0006766

GO:0009235

GO:0016787

GO:0042802

GO:0042803

GO:0043226

HMNXSV003006243

HMNXSV003006457

HMNXSV003007915

Hs.117747.0.A1_3p_at

Hs.126216.0.A1_3p_at

Hs.21017.0.A1_3p_at

Hs.21017.1.S1_3p_at

Hs.27947.0.A1_3p_at

ILMN_1754315

PH_hs_0022324

TC04000713.hg

TC04000714.hg

TC04002244.hg

TC04002245.hg

p12916

p22576

Participates

as a component of

2xMMAA [mitochondrial matrix] (Homo sapiens)

Other forms of this molecule

MMAA Q95* [mitochondrial matrix]

MMAA R145* [mitochondrial matrix]

MMAA Y207C [mitochondrial matrix]

MMAA K88Ifs*9 [mitochondrial matrix]

Inferred To

Mmaa [mitochondrial matrix] (Rattus norvegicus)

mmaa [mitochondrial matrix] (Danio rerio)

MMAA [mitochondrial matrix] (Bos taurus)

MMAA [mitochondrial matrix] (Caenorhabditis elegans)

MMAA [mitochondrial matrix] (Canis familiaris)

MMAA [mitochondrial matrix] (Gallus gallus)

MMAA [mitochondrial matrix] (Mus musculus)

MMAA [mitochondrial matrix] (Sus scrofa)

Cross References

RefSeq

NP_758454.1, XP_011529986.1, XP_011529987.1

ENSEMBL

ENSP00000506503, ENST00000541599, ENSP00000497008, ENST00000648388, ENST00000649156, ENSP00000497680, ENSP00000442284, ENST00000679563, ENST00000649704, ENSP00000497046

OpenTargets

ENSG00000151611

HPA

ENSG00000151611-MMAA

PRO

Q8IVH4

Pharos - Targets

Q8IVH4

Orphanet

MMAA

HMDB Protein

HMDBP03093

PDB

8GJU, 2WWW

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
GTP [ChEBI:15996]	7	GTP [cilium] (R-ALL-5617813) GTP [early endosome membrane] (R-ALL-2130170) GTP [lysosomal membrane] (R-ALL-2213216) GTP [platelet dense granule lumen] (R-ALL-114625) GTP [cytoplasmic vesicle membrane] (R-ALL-1996291) GTP [ER to Golgi transport vesicle membrane] (R-ALL-983318) GTP [Golgi membrane] (R-ALL-1806221)	0.623	4