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methylmalonyl-CoA mutase

Summary

Gene Symbol

MMUT

Aliases

Organism

Homo sapiens (human)

External Links

NCBI Gene

4594

HGNC

7526

KEGG Gene ID

hsa:4594

PubChem

4594

Alliance of Genome Resources

HGNC:7526

JoGo

MMUT

TogoVar

MMUT

Annotation

Keyword

3D-structure
Acetylation
Cobalamin
Cytoplasm
Direct protein sequencing
Disease variant
Isomerase
Metal-binding
Mitochondrion
Phosphoprotein
Proteomics identification
Reference proteome
Transit peptide

Proteins

Displaying **all 3** entries
UniProt	Protein Name
P22033	Methylmalonyl-CoA isomerase
B2R6K1	Methylmalonyl-CoA isomerase
A0A024RD82	Methylmalonyl-CoA isomerase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
sulfur compound metabolic process	IEA
post-embryonic development
obsolete propionate metabolic process, methylmalonyl pathway
positive regulation of GTPase activity	IDA
small molecule metabolic process

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

sulfur compound metabolic process

sulfur amino acid metabolic process [inference]

homocysteine metabolic process

acyl-CoA metabolic process [inference]

succinyl-CoA metabolic process [inference]

succinyl-CoA biosynthetic process

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

sulfur compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

sulfur compound catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

phosphorus metabolic process [inference]

organophosphate metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

succinyl-CoA metabolic process [inference]

succinyl-CoA biosynthetic process

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

organophosphate catabolic process [inference]

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

organophosphate biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

catabolic process [inference]

lipid catabolic process [inference]

fatty acid derivative catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

nucleobase-containing compound catabolic process [inference]

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

sulfur compound catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

organophosphate catabolic process [inference]

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

purine-containing compound catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

sulfur compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

purine-containing compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

organophosphate biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

nucleobase-containing compound catabolic process [inference]

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

succinyl-CoA metabolic process [inference]

succinyl-CoA biosynthetic process

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

amino acid metabolic process [inference]

non-proteinogenic amino acid metabolic process [inference]

homocysteine metabolic process

lipid metabolic process [inference]

lipid catabolic process [inference]

fatty acid derivative catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

fatty acid derivative metabolic process [inference]

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

fatty acid derivative catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

small molecule metabolic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

sulfur amino acid metabolic process [inference]

homocysteine metabolic process

non-proteinogenic amino acid metabolic process [inference]

homocysteine metabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleoside phosphate metabolic process [inference]

acyl-CoA metabolic process [inference]

succinyl-CoA metabolic process [inference]

succinyl-CoA biosynthetic process

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

nucleoside phosphate catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

nucleoside phosphate biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

purine-containing compound metabolic process [inference]

acyl-CoA metabolic process [inference]

succinyl-CoA metabolic process [inference]

succinyl-CoA biosynthetic process

fatty-acyl-CoA metabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

propionyl-CoA metabolic process [inference]

propionyl-CoA catabolic process

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

purine-containing compound biosynthetic process [inference]

acyl-CoA biosynthetic process [inference]

succinyl-CoA biosynthetic process

purine-containing compound catabolic process [inference]

fatty-acyl-CoA catabolic process [inference]

propionyl-CoA catabolic process

multicellular organismal process [inference]

post-embryonic development

biological regulation [inference]

regulation of molecular function [inference]

positive regulation of molecular function [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

regulation of catalytic activity [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

regulation of hydrolase activity [inference]

regulation of GTPase activity [inference]

positive regulation of GTPase activity

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
cytoplasm	IDA
cytoplasm	IBA
cytoplasm	IEA
mitochondrion	TAS
mitochondrion	IDA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytoplasm

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

mitochondrion

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
catalytic activity	IEA
GTPase activity	IDA
methylmalonyl-CoA mutase activity	EXP
methylmalonyl-CoA mutase activity	IDA
methylmalonyl-CoA mutase activity	IMP

GO Hierarchy

molecular function

catalytic activity

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

GTPase activity

isomerase activity

intramolecular transferase activity

methylmalonyl-CoA mutase activity

binding [inference]

protein binding

identical protein binding

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

small molecule binding [inference]

vitamin binding [inference]

cobalamin binding

ion binding [inference]

cation binding [inference]

metal ion binding

heterocyclic compound binding [inference]

cobalamin binding

tetrapyrrole binding [inference]

cobalamin binding

modified amino acid binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000146085

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K01847

Name

methylmalonyl-CoA mutase [EC:5.4.99.2]

References

1978672

Rhea

RHEA:22888

(R)-methylmalonyl-CoA

succinyl-CoA

Enzyme

5.4.99.2

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0060740	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 53 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000083	Renal insufficiency
HP:0000124	Renal tubular dysfunction
HP:0000648	Optic atrophy
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001259	Coma
HP:0001260	Dysarthria

Displaying **all 3** entries
Disease ID	Disease Name
ORPHA:79312	vitamin B12-unresponsive methylmalonic acidemia type mut-
OMIM:251000	methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
ORPHA:289916	vitamin B12-unresponsive methylmalonic acidemia type mut0