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MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase [ Homo sapiens (human) ]

Gene ID: 4552, updated on 1-Aug-2020

Summary

Official Symbol
MTRRprovided by HGNC
Official Full Name
5-methyltetrahydrofolate-homocysteine methyltransferase reductaseprovided by HGNC
Primary source
HGNC:HGNC:7473
See related
Ensembl:ENSG00000124275 MIM:602568
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSR; cblE
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]
Expression
Ubiquitous expression in lung (RPKM 14.2), kidney (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See MTRR in Genome Data Viewer
Location:
5p15.31
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (7851186..7901124)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (7851299..7901237)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374646 Neighboring gene adenylate cyclase 2 Neighboring gene chromosome 5 open reading frame 49 Neighboring gene FAST kinase domains 3 Neighboring gene semaphorin 5A pseudogene Neighboring gene RNA, U1 small nuclear 76, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129643

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FAD binding IDA
Inferred from Direct Assay
more info
PubMed 
FMN binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
FMN binding IDA
Inferred from Direct Assay
more info
PubMed 
FMN binding TAS
Traceable Author Statement
more info
PubMed 
NADP binding TAS
Traceable Author Statement
more info
PubMed 
NADPH binding IDA
Inferred from Direct Assay
more info
PubMed 
NADPH-hemoprotein reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADPH-hemoprotein reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
[methionine synthase] reductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
[methionine synthase] reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
[methionine synthase] reductase activity TAS
Traceable Author Statement
more info
PubMed 
aquacobalamin reductase (NADPH) activity IDA
Inferred from Direct Assay
more info
PubMed 
flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
PubMed 
flavin adenine dinucleotide binding TAS
Traceable Author Statement
more info
PubMed 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA methylation ISS
Inferred from Sequence or Structural Similarity
more info
 
S-adenosylmethionine cycle ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
folic acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
folic acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
homocysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
homocysteine metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methionine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methionine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
methionine metabolic process TAS
Traceable Author Statement
more info
PubMed 
methylation TAS
Traceable Author Statement
more info
 
negative regulation of cystathionine beta-synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process TAS
Traceable Author Statement
more info
PubMed 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
methionine synthase reductase
Names
[methionine synthase]-cobalamin methyltransferase (cob(II)alamin reducing)
aqCbl reductase
aquacobalamin reductase
methionine synthase reductase, mitochondrial
NP_001351369.1
NP_001351370.1
NP_001351371.1
NP_002445.2
NP_076915.3
XP_024301832.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008856.1 RefSeqGene

    Range
    5045..37010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001364440.2NP_001351369.1  methionine synthase reductase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents the longest transcript. Variants 1, 2, 6, 7, and 8 all encode the same protein.
    Source sequence(s)
    AC010346, AC025174
    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin
  2. NM_001364441.2NP_001351370.1  methionine synthase reductase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 6. Variants 1, 2, 6, 7, and 8 all encode the same protein.
    Source sequence(s)
    AC010346, AC025174
    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin
  3. NM_001364442.2NP_001351371.1  methionine synthase reductase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 6. Variants 1, 2, 6, 7, and 8 all encode the same protein.
    Source sequence(s)
    AC010346, AC025174
    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin
  4. NM_002454.3NP_002445.2  methionine synthase reductase

    See identical proteins and their annotated locations for NP_002445.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 6. Variants 1, 2, 6, 7, and 8 all encode the same protein.
    Source sequence(s)
    BC054816, BC109216
    Consensus CDS
    CCDS47190.1
    UniProtKB/Swiss-Prot
    Q9UBK8
    Related
    ENSP00000402510.2, ENST00000440940.7
    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin
  5. NM_024010.4NP_076915.3  methionine synthase reductase

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 6. Variants 1, 2, 6, 7, and 8 all encode the same protein.
    Source sequence(s)
    AC010346, AC025174
    Related
    ENSP00000264668.2, ENST00000264668.6
    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin

RNA

  1. NR_134480.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC054816, BC109217, DA384356
  2. NR_134481.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF121214, BC035977, BC054816
    Related
    ENST00000510525.5
  3. NR_134482.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC054816, BC062577, BC109217
  4. NR_157168.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  5. NR_157169.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
    Related
    ENST00000511461.5
  6. NR_157170.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  7. NR_157171.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  8. NR_157172.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  9. NR_157173.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  10. NR_157174.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  11. NR_157175.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  12. NR_157176.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  13. NR_157177.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174
  14. NR_157178.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC010346, AC025174

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    7851186..7901124
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446064.1XP_024301832.1  methionine synthase reductase isoform X2

    Conserved Domains (2) summary
    cd06203
    Location:277697
    methionine_synthase_red; Human methionine synthase reductase (MSR) restores methionine sythase which is responsible for the regeneration of methionine from homocysteine, as well as the coversion of methyltetrahydrofolate to tetrahydrofolate. In MSR, electrons are transferred ...
    pfam00258
    Location:6142
    Flavodoxin_1; Flavodoxin

RNA

  1. XR_001742077.1 RNA Sequence

  2. XR_001742076.1 RNA Sequence

  3. XR_001742071.1 RNA Sequence

  4. XR_001742072.1 RNA Sequence

  5. XR_001742075.1 RNA Sequence

  6. XR_001742074.1 RNA Sequence

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