Reactome | MUT [mitochondrial matrix]

MUT [mitochondrial matrix]

Stable Identifier

R-HSA-70998

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

mitochondrial matrix

Synonyms

methylmalonyl-CoA mutase, apoprotein, MUTA_HUMAN, Methylmalonyl-CoA mutase, mitochondrial precursor , MCM

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Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Defects in vitamin and cofactor metabolism (Homo sapiens)
    - Defects in cobalamin (B12) metabolism (Homo sapiens)
      - Defective MMAA causes MMA, cblA type (Homo sapiens)
        
        Defective MMAA does not protect MUT (Homo sapiens)
        
        2xMMAA mutants:2xMUT [mitochondrial matrix] (Homo sapiens)
        
        2xMUT [mitochondrial matrix] (Homo sapiens)
        
        MUT [mitochondrial matrix] (Homo sapiens)

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)
        
        2xMUT [mitochondrial matrix] (Homo sapiens)
        
        MUT [mitochondrial matrix] (Homo sapiens)
        
        2xMUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
        
        MUT [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)
        
        2xMUT [mitochondrial matrix] (Homo sapiens)
        
        MUT [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA:2xMUT:AdoCbl [mitochondrial matrix] (Homo sapiens)
        
        2xMMAA:2xMUT [mitochondrial matrix] (Homo sapiens)
        
        2xMUT [mitochondrial matrix] (Homo sapiens)
        
        MUT [mitochondrial matrix] (Homo sapiens)

External Reference Information

External Reference

UniProt:P22033 MMUT

Gene Names

MMUT, MUT

Chain

transit peptide:1-32, chain:33-750

Reference Genes

BioGPS Gene:4594 MMUT

COSMIC (genes):MMUT MMUT

CTD Gene:4594 MMUT

dbSNP Gene:4594 MMUT

ENSEMBL:ENSG00000146085 MUT

HGNC:7526 MMUT

KEGG:hsa:4594 MMUT

Monarch:4594 MMUT

NCBI Gene:4594 MMUT

OMIM:609058 MMUT

UCSC:P22033 MMUT

Reference Transcript

Other Identifiers

11723652_a_at

11723653_at

11758888_at

17019831

202959_PM_at

202959_at

202960_PM_s_at

202960_s_at

2956439

2956440

2956441

2956442

2956443

2956444

2956445

2956447

2956449

2956451

2956452

2956453

2956454

2956455

2956457

2956458

2956459

2956460

2956461

2956462

2956463

2956465

2956466

2956467

40105_at

4594

62961_at

8126860

A_23_P214273

A_23_P400235

GE58043

GO:0003824

GO:0003924

GO:0004494

GO:0005515

GO:0005737

GO:0005739

GO:0005759

GO:0006520

GO:0006629

GO:0006790

GO:0009791

GO:0016787

GO:0016853

GO:0016866

GO:0019678

GO:0031419

GO:0042802

GO:0042803

GO:0043226

GO:0043547

GO:0046872

GO:0050667

GO:0055086

GO:0072341

GO:1901135

GO:1901290

HMNXSV003042461

Hs.155212.0.A2_3p_at

ILMN_1785113

M65131_rna1_at

PH_hs_0009350

TC06001782.hg

g4557766_3p_a_at

Participates

as a component of

Other forms of this molecule

MUT R93H [mitochondrial matrix]

MUT W105R [mitochondrial matrix]

MUT G623R [mitochondrial matrix]

MUT R108C [mitochondrial matrix]

MUT G215S [mitochondrial matrix]

MUT N219Y [mitochondrial matrix]

MUT Q17* [mitochondrial matrix]

MUT G703R [mitochondrial matrix]

MUT A378E [mitochondrial matrix]

Inferred To

Mmut [mitochondrial matrix] (Rattus norvegicus)

mmut [mitochondrial matrix] (Danio rerio)

MUT [mitochondrial matrix] (Caenorhabditis elegans)

MUT [mitochondrial matrix] (Gallus gallus)

MUT [mitochondrial matrix] (Mus musculus)

MMUT [mitochondrial matrix] (Bos taurus)

MMUT [mitochondrial matrix] (Canis familiaris)

MMUT [mitochondrial matrix] (Sus scrofa)

Cross References

RefSeq

NP_000246.2, XP_005249200.1

OpenTargets

ENSG00000146085

ENSEMBL

ENSP00000274813, ENST00000274813, ENSG00000146085

HPA

ENSG00000146085-MMUT

GeneCards

MMUT

PRO

P22033

Pharos - Targets

P22033

Orphanet

MMUT

GlyGen

P22033

PDB

2XIJ, 8DYL, 8DYJ, 3BIC, 2XIQ, 8GJU

HMDB Protein

HMDBP00257

Interactors (3)

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	2
cobamamide [ChEBI:18408]	1	AdoCbl [mitochondrial matrix] (R-ALL-3159297)	0.611	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	12