MTRR

GENERAL INFORMATION

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Gene name

MTRR

Gene description

5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA038113
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Lung

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

MTRR (HGNC Symbol)

Synonyms

cblE

Description

5-methyltetrahydrofolate-homocysteine methyltransferase reductase (HGNC Symbol)

Entrez gene summary

Methionine is an essential amino acid required for protein synthesis and one-carbon metabolism. Its synthesis is catalyzed by the enzyme methionine synthase. Methionine synthase eventually becomes inactive due to the oxidation of its cob(I)alamin cofactor. The protein encoded by this gene regenerates a functional methionine synthase via reductive methylation. It is a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. Patients of the cbl-E complementation group of disorders of folate/cobalamin metabolism are defective in reductive activation of methionine synthase. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Chromosome

5

Cytoband

p15.31

Chromosome location (bp)

7851186 - 7906025

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000124275 (version 78.38)

Entrez gene

4552

UniProt

Q9UBK8 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBK8

Antibodypedia

MTRR antibodies


PROTEIN BROWSER

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ENST00000264668
 
ENST00000440940
 
ENST00000502550
 
ENST00000506877
 
ENST00000512217
 
ENST00000514220
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

MTRR-001 ENSP00000264668
ENST00000264668
Q9UBK8
Show all »
Show » Show » 725 80.4 No 0
MTRR-009 ENSP00000402510
ENST00000440940
Q9UBK8
Show all »
Show » Show » 698 77.7 No 0
MTRR-010 ENSP00000423863
ENST00000514220
Show » Show » 160 17.6 No 0
MTRR-012 ENSP00000424599
ENST00000502550
D6RAZ2
Show all »
Show » Show » 156 17.5 No 0
MTRR-013 ENSP00000427416
ENST00000506877
D6RIS8
Show all »
Show » Show » 41 4.6 Yes 0
MTRR-014 ENSP00000421318
ENST00000512217
D6RGC7
Show all »
Show » Show » 112 12.4 No 0