Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 4552, updated on 11-Jul-2021

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MTRR in Genome Data Viewer
    Location:
    5p15.31
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (7851186..7901124)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (7869261..7901226)

    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
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables FMN binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables FMN binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NADPH binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables NADPH-hemoprotein reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables [methionine synthase] reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables [methionine synthase] reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables [methionine synthase] reductase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables flavin adenine dinucleotide binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables oxidoreductase activity, acting on metal ions, NAD or NADP as acceptor IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in S-adenosylmethionine cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in folic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in folic acid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in homocysteine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in homocysteine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in methionine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in methionine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cystathionine beta-synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    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)

    NEW Try the new Transcript table

    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 Updated Annotation Release 109.20210514

    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

    Support Center