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    Mthfsd methenyltetrahydrofolate synthetase domain containing [ Mus musculus (house mouse) ]

    Gene ID: 234814, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mthfsdprovided by MGI
    Official Full Name
    methenyltetrahydrofolate synthetase domain containingprovided by MGI
    Primary source
    MGI:MGI:2679252
    See related
    Ensembl:ENSMUSG00000031816 AllianceGenome:MGI:2679252
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C920004D05
    Summary
    Predicted to enable RNA binding activity. Predicted to be active in cytoplasm. Orthologous to human MTHFSD (methenyltetrahydrofolate synthetase domain containing). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 13.1), limb E14.5 (RPKM 12.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mthfsd in Genome Data Viewer
    Location:
    8 E1; 8 70.31 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (121818367..121835152, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (121091628..121108413, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene Foxf1 adjacent non-coding developmental regulatory RNA Neighboring gene forkhead box F1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:123632389-123632572 Neighboring gene STARR-positive B cell enhancer ABC_E9747 Neighboring gene forkhead box C2 Neighboring gene forkhead box L1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis. MacNair L, et al. Brain, 2016 Jan. PMID 26525917
    2. The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse. Grote P, et al. Dev Cell, 2013 Jan 28. PMID 23369715, Free PMC Article
    3. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. identifies DDX58 and MTHFSD as two TDP-43 targets that are misregulated in amyotrophic lateral sclerosis. 1
      Title: MTHFSD and DDX58 are novel RNA-binding proteins abnormally regulated in amyotrophic lateral sclerosis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC62465

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    methenyltetrahydrofolate synthase domain-containing protein
    Names
    methenyltetrahydrofolate synthetase domain-containing protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001166482.2 → NP_001159954.1  methenyltetrahydrofolate synthase domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_001159954.1

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Consensus CDS
      CCDS52691.1
      UniProtKB/Swiss-Prot
      Q3URQ7, Q80WS4, Q8BUM0
      Related
      ENSMUSP00000112116.3, ENSMUST00000116415.9
      Conserved Domains (2) summary
      cl00360
      Location:9 → 210
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:297 → 366
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. NM_001372381.1 → NP_001359310.1  methenyltetrahydrofolate synthase domain-containing protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Conserved Domains (2) summary
      cl00360
      Location:9 → 206
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:297 → 366
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. NM_001372383.1 → NP_001359312.1  methenyltetrahydrofolate synthase domain-containing protein isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Conserved Domains (2) summary
      cl00360
      Location:9 → 206
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:297 → 366
      RRM_SF; RNA recognition motif (RRM) superfamily

    4. NM_001372384.1 → NP_001359313.1  methenyltetrahydrofolate synthase domain-containing protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC127554
      UniProtKB/Swiss-Prot
      Q3URQ7, Q80WS4, Q8BUM0
      Conserved Domains (2) summary
      cl00360
      Location:9 → 210
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:297 → 366
      RRM_SF; RNA recognition motif (RRM) superfamily

    5. NM_001372385.1 → NP_001359314.1  methenyltetrahydrofolate synthase domain-containing protein isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Conserved Domains (2) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:278 → 347
      RRM_SF; RNA recognition motif (RRM) superfamily

    6. NM_001372386.1 → NP_001359315.1  methenyltetrahydrofolate synthase domain-containing protein isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Conserved Domains (1) summary
      cl00360
      Location:9 → 210
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    7. NM_001372387.1 → NP_001359316.1  methenyltetrahydrofolate synthase domain-containing protein isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC127554
      UniProtKB/TrEMBL
      D3Z4L1
      Related
      ENSMUSP00000117429.2, ENSMUST00000133037.8
      Conserved Domains (1) summary
      cl00360
      Location:9 → 206
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    8. NM_001372388.1 → NP_001359317.1  methenyltetrahydrofolate synthase domain-containing protein isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC127554
      UniProtKB/TrEMBL
      D3Z0Q4
      Conserved Domains (1) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    9. NM_001372389.1 → NP_001359318.1  methenyltetrahydrofolate synthase domain-containing protein isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC124170, AC127554
      Conserved Domains (1) summary
      cl00360
      Location:9 → 206
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    10. NM_172761.4 → NP_766349.1  methenyltetrahydrofolate synthase domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_766349.1

      Status: VALIDATED

      Source sequence(s)
      AC127554
      Consensus CDS
      CCDS22723.1
      UniProtKB/Swiss-Prot
      Q3URQ7
      Related
      ENSMUSP00000044172.6, ENSMUST00000047282.12
      Conserved Domains (2) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:278 → 347
      RRM_SF; RNA recognition motif (RRM) superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      121818367..121835152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530939.4 → XP_006531002.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      See identical proteins and their annotated locations for XP_006531002.1

      Conserved Domains (2) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:278 → 347
      RRM_SF; RNA recognition motif (RRM) superfamily

    2. XM_006530935.5 → XP_006530998.1  methenyltetrahydrofolate synthase domain-containing protein isoform X1

      Conserved Domains (2) summary
      cl00360
      Location:81 → 278
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:369 → 438
      RRM_SF; RNA recognition motif (RRM) superfamily

    3. XM_036153974.1 → XP_036009867.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      Conserved Domains (2) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
      cl17169
      Location:278 → 347
      RRM_SF; RNA recognition motif (RRM) superfamily

    4. XM_036153975.1 → XP_036009868.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

      UniProtKB/TrEMBL
      D3Z0Q4
      Related
      ENSMUSP00000115382.2, ENSMUST00000139782.8
      Conserved Domains (1) summary
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    5. XM_006530937.4 → XP_006531000.1  methenyltetrahydrofolate synthase domain-containing protein isoform X2

      Conserved Domains (1) summary
      cl00360
      Location:81 → 278
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    6. XM_017312753.3 → XP_017168242.1  methenyltetrahydrofolate synthase domain-containing protein isoform X6

      Conserved Domains (1) summary
      cl00360
      Location:81 → 193
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    7. XM_036153976.1 → XP_036009869.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    8. XM_017312752.2 → XP_017168241.1  methenyltetrahydrofolate synthase domain-containing protein isoform X5

      Conserved Domains (1) summary
      cl00360
      Location:81 → 167
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3URQ7.1 GenPept UniProtKB/Swiss-Prot:Q3URQ7

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