MTRR - 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Gene

Also Known as MSR; cblE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4552

About MTRR

Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:7,850,859-7,901,113 (from NCBI)

This gene has 25 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lung (RPKM 14.2), kidney (RPKM 10.4) and 25 other tissues.

Summary

This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]

MTRR Products (5)

mRNA	Protein	Name
NM_001364440.2	NP_001351369.1	methionine synthase reductase
NM_001364441.2	NP_001351370.1	methionine synthase reductase
NM_001364442.2	NP_001351371.1	methionine synthase reductase
NM_002454.3	NP_002445.2	methionine synthase reductase
NM_024010.4	NP_076915.3	methionine synthase reductase

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables FAD binding	IDA IDA: Inferred from direct assay	11466310	GOA
enables FMN binding	IDA IDA: Inferred from direct assay	11466310	GOA
enables NADPH binding	IDA IDA: Inferred from direct assay	11466310	GOA
enables NADPH-hemoprotein reductase activity	IDA IDA: Inferred from direct assay	11466310	GOA
enables [methionine synthase] reductase (NADPH) activity	IDA IDA: Inferred from direct assay	9501215	GOA
enables flavin adenine dinucleotide binding	IDA IDA: Inferred from direct assay	17892308	GOA
enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor	IDA IDA: Inferred from direct assay	17892308	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17288554	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in folic acid metabolic process	IDA IDA: Inferred from direct assay	11466310	GOA
involved in homocysteine catabolic process	IDA IDA: Inferred from direct assay	11466310	GOA
involved in methionine biosynthetic process	IDA IDA: Inferred from direct assay	11466310	GOA
involved in negative regulation of cystathionine beta-synthase activity	IDA IDA: Inferred from direct assay	24416422	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in cytosol	IDA IDA: Inferred from direct assay	18221906	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTRR Protein Structure

Flavodoxin_1

FAD_binding_1

NAD_binding_1

0
200
400
600
725 a.a.

Protein Preferred Names	Protein Names
methionine synthase reductase	[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)

MTRR Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTRR	Q9UBK8	FLJ13057	Homo sapiens	Q53SE7	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cble Complementation Type Methylcobalamin Deficiency Type Cble HMAE Homocystinuria-Megaloblastic Anemia, Cbl E Type Vitamin B12-Responsive Homocystinuria, Cble Type Methylcobalamin Deficiency, Cble Type Functional Methionine Synthase Deficiency Type Cble Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism Cble Complementation Type Methylcobalamin Deficiency Cble Type Vitamin B12-Responsive Homocystinuria Cble Type Anemia, Homocystinuria-Megaloblastic, Cble Complementation Type
Homocystinuria Without Methylmalonic Aciduria	Functional Methionine Synthase Deficiency Methylcobalamin Deficiency
Neural Tube Defects, Folate-Sensitive	Neural Tube Defects, Folate-Sensitive, Susceptibility To Neural Tube Defect, Folate-Sensitive NTDFS Ntd, Folate-Sensitive Neural Tube Defects, Susceptibility To Neural Tube Defects
Homocystinuria	Cystathionine Beta Synthase Deficiency Homocysteinemia Cbs Deficiency Cystathionine Synthase Deficiency Cystathionine Beta-Synthase Deficiency Disease
Megaloblastic Anemia	Imerslund-Grasbeck Syndrome Igs Defect Of Enterocyte Intrinsic Factor Receptor Enterocyte Cobalamin Malabsorption Familial Megaloblastic Anemia Megaloblastic Anemia 1 Selective Cobalamin Malabsorption With Proteinuria Imerslund-Gräsbeck Syndrome Anemia, Megaloblastic Grasbeck-Imerslund Syndrome Megaloblastic Anaemia Mga1 Norwegian Type Recessive Hereditary Megaloblastic Anaemia 1 Recessive Hereditary Megaloblastic Anemia 1 Rh-Mga1 Gräsbeck-Imerslund Disease Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12 Anemia Megaloblastic Megaloblastic Anemia Due To Inborn Errors Of Metabolism 3-@Methylglutaconic Aciduria, Type I
Hyperhomocysteinemia
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
Fallopian Tube Disease	Fallopian Tube Diseases
Urethral Syndrome	Urethral Disease Urethral Diseases Urethra Disease Abnormality Of The Urethra Urethral Disorders
Nondisjunction	Mosaicism, Chromosomal Mixoploidy, Familial
Myelomeningocele	Meningomyelocele
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Anencephaly	Aprosencephaly Anencephalus Congenital Absence Of Brain Absence Of A Large Part Of The Brain And The Skull Anencephalia Anencephalic Monster Brain Absence Brain Agenesis Brain Aplasia Absent Brain Anencephalic Congenital Absence Of Cerebrum Congenital Hemicrania Incomplete Anencephaly
Homocysteinemia	Hyperhomocysteinemia
Urethritis	Nonspecific Urethritis Non-Gonococcal Urethritis Nongonococcal Urethritis
Ophthalmia Neonatorum	Gonococcal Conjunctivitis Gonococcal Ophthalmia Neonatorum Neonatal Conjunctivitis
Vascular Disease	Vascular Diseases Aneurysm Spinal Cord Ischemia Vascular Anomaly Spinal Cord Vascular Diseases Vascular Tissue Disease
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
Methylmalonic Aciduria, Cbla Type	Methylmalonic Acidemia Cbla Type Methylmalonic Aciduria Cbla Type Methylmalonic Acidemia, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla Methylmalonic Aciduria Type Cbla MMAA Methylmalonic Aciduria Type A Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A Aciduria, Methylmalonic, Cbla Type Methylmalonic Aciduria Cbla Type
Vitamin B12 Deficiency	Cobalamin Deficiency Hypocobalaminemia Vitamin B 12 Deficiency Cyanocobalamin Deficiency Deficiency Of Vitamin B12
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Vitamin Metabolic Disorder
Methylmalonic Acidemia	Methylmalonic Aciduria Mma Acidemia, Methylmalonic Isolated Methylmalonic Acidemia
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Bacterial Conjunctivitis	Purulent Conjunctivitis Conjunctivitis, Bacterial
Chromosomal Duplication Syndrome
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08819	MTRR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MTRR	MGD	MGI:1891037
Canis familiaris	MTRR	VGNC	VGNC:49927
Rattus norvegicus	MTRR	RGD	RGD:1308671
Macaca mulatta	MTRR	VGNC	VGNC:75079
Bos taurus	MTRR	VGNC	VGNC:58606
Felis catus	MTRR	VGNC	VGNC:68355
Others	MTRR	NCBI