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MUT

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GENERAL INFORMATION

Gene name

 MUT

Gene description

 Methylmalonyl CoA mutase

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

Summary

 Mainly localized to the cytosol. In addition localized to the mitochondria.

RNA cell category

 Expressed in all

Protein evidence

 Evidence at protein level

Main location

 Localized to the Cytosol (approved)

Additional location

 In addition localized to the Mitochondria (approved)

DATA RELIABILITY

Reliability score

 Approved based on 1 antibody.
HPA035971
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ASSAYS
RNA expression
Human cells

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

HUMAN CELLS

Summary

 Mainly localized to the cytosol. In addition localized to the mitochondria.

Main location

 Cytosol (approved)

Additional location

 Mitochondria (approved)

 

 

 
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Low
High
G1
S
G2
M
N/A

Thumbnail

Antibody

Cell line

Location

Single-cell variation

Cell cycle dependent variation
HPA035971 A-431 Cytosol
HPA035971 U-2 OS Cytosol
HPA035971 U-251 MG Mitochondria
Cytosol

GENE INFORMATION

Gene name

 MUT

Synonyms

Description

 Methylmalonyl CoA mutase (HGNC Symbol)

Entrez gene summary

 This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 p12.3

Chromosome location (bp)

 49430360 - 49463191

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000146085 (version 83.38)

Entrez gene

 4594

UniProt

 P22033 (UniProt - Evidence at protein level)

neXtProt

 NX_P22033

Antibodypedia

 MUT antibodies

PROTEIN BROWSER
MUT-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MUT-001
ENSP00000274813
ENST00000274813
P22033 [Direct mapping]
Methylmalonyl-CoA mutase, mitochondrial
A0A024RD82 [Target identity:100%; Query identity:100%]
Methylmalonyl Coenzyme A mutase, isoform CRA_a
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Enzymes
   ENZYME proteins
   Isomerase
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003824 [catalytic activity]
GO:0004494 [methylmalonyl-CoA mutase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006635 [fatty acid beta-oxidation]
GO:0006766 [vitamin metabolic process]
GO:0006767 [water-soluble vitamin metabolic process]
GO:0008152 [metabolic process]
GO:0009235 [cobalamin metabolic process]
GO:0009791 [post-embryonic development]
GO:0016853 [isomerase activity]
GO:0016866 [intramolecular transferase activity]
GO:0019626 [short-chain fatty acid catabolic process]
GO:0031419 [cobalamin binding]
GO:0044255 [cellular lipid metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050667 [homocysteine metabolic process]
GO:0072341 [modified amino acid binding]
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 750 aa
83.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.