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    MTHFSD methenyltetrahydrofolate synthetase domain containing [ Homo sapiens (human) ]

    Gene ID: 64779, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MTHFSDprovided by HGNC
    Official Full Name
    methenyltetrahydrofolate synthetase domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:25778
    See related
    Ensembl:ENSG00000103248 MIM:616820; AllianceGenome:HGNC:25778
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTHFSD in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (86530186..86555235, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (92598486..92623551, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86563792..86588841, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86545626-86546392 Neighboring gene forkhead box F1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86555369-86555869 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86560664-86561643 Neighboring gene ribosomal protein L7a pseudogene 63 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86586448-86587112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86587113-86587775 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86588698-86588911 Neighboring gene uncharacterized protein FLJ30679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86600570-86601154 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86601155-86601738 Neighboring gene forkhead box C2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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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. A genome-scale protein interaction profile of Drosophila p53 uncovers additional nodes of the human p53 network. Lunardi A, et al. Proc Natl Acad Sci U S A, 2010 Apr 6. PMID 20308539, Free PMC Article
    3. High-sensitivity profiling of SARS-CoV-2 noncoding region-host protein interactome reveals the potential regulatory role of negative-sense viral RNA. Jiang L, et al. mSystems, 2023 Aug 31. PMID 37314180, Free PMC Article
    4. The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts. Baltz AG, et al. Mol Cell, 2012 Jun 8. PMID 22681889
    5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12998, FLJ13893, MGC138262, MGC138264, MGC177233

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    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_001159377.2 → NP_001152849.1  methenyltetrahydrofolate synthase domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_001152849.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC009108, AK297726, BC112059
      Consensus CDS
      CCDS54047.1
      UniProtKB/Swiss-Prot
      A8MQ77, B7ZLC0, B7ZLC2, D3DUM9, E9PAM1, Q2M296, Q9H878, Q9H954
      UniProtKB/TrEMBL
      B4DN17
      Related
      ENSP00000354152.6, ENST00000360900.11
      Conserved Domains (2) summary
      cd12270
      Location:307 → 378
      RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:10 → 207
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    2. NM_001159378.2 → NP_001152850.1  methenyltetrahydrofolate synthase domain-containing protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has alternate splice sites in the 5' coding region, compared to variant 1. The resulting isoform (2) is of the same size, but has a different internal segment, compared to isoform 1.
      Source sequence(s)
      AC009108, AK297726, BC143707
      Consensus CDS
      CCDS54048.1
      UniProtKB/TrEMBL
      B4DN17
      Related
      ENSP00000370612.5, ENST00000381214.9
      Conserved Domains (2) summary
      COG0212
      Location:10 → 211
      FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
      cd12270
      Location:307 → 378
      RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins

    3. NM_001159379.2 → NP_001152851.1  methenyltetrahydrofolate synthase domain-containing protein isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has alternate splice sites in the 5' coding region, compared to variant 1. The resulting isoform (4) is one aa shorter, and has a different internal segment, compared to isoform 1.
      Source sequence(s)
      AC009108, AK297726
      Consensus CDS
      CCDS58490.1
      UniProtKB/TrEMBL
      B4DN17
      Related
      ENSP00000444003.2, ENST00000543303.6
      Conserved Domains (2) summary
      COG0212
      Location:9 → 210
      FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
      cd12270
      Location:306 → 377
      RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins

    4. NM_001159380.2 → NP_001152852.1  methenyltetrahydrofolate synthase domain-containing protein isoform 5

      See identical proteins and their annotated locations for NP_001152852.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate splice site in the 5' coding region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC009108, BC143705
      UniProtKB/TrEMBL
      B4DN17
      Conserved Domains (2) summary
      cd12270
      Location:287 → 358
      RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    5. NM_022764.3 → NP_073601.2  methenyltetrahydrofolate synthase domain-containing protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) is one aa shorter, compared to isoform 1.
      Source sequence(s)
      AC009108, AI263847, AK023955, AK297726
      Consensus CDS
      CCDS42211.1
      UniProtKB/TrEMBL
      B4DN17
      Related
      ENSP00000489295.1, ENST00000634347.1
      Conserved Domains (2) summary
      cd12270
      Location:306 → 377
      RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:9 → 206
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    RNA

    1. NR_027489.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) has alternate splice sites and an additional exon in the 5' coding region, which results in an earlier stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate and is unlikely to make a functional protein.
      Source sequence(s)
      AC009108, AK096836

    2. NR_027490.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) has an additional segment in the 5' coding region, which includes a stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate and is unlikely to make a functional protein.
      Source sequence(s)
      AC009108, AK297726, BC143703

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      86530186..86555235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434506.1 → XP_047290462.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

      UniProtKB/TrEMBL
      B3KUB0, F5H0M7
      Related
      ENSP00000438761.1, ENST00000546093.5

    2. XM_017023572.3 → XP_016879061.3  methenyltetrahydrofolate synthase domain-containing protein isoform X2

      UniProtKB/TrEMBL
      B4DN17

    3. XM_017023571.2 → XP_016879060.1  methenyltetrahydrofolate synthase domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B4DN17

    4. XM_047434499.1 → XP_047290455.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      UniProtKB/TrEMBL
      B4DN17

    5. XM_047434498.1 → XP_047290454.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DN17
      Conserved Domains (2) summary
      cd12270
      Location:287 → 358
      RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    6. XM_005256101.2 → XP_005256158.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      See identical proteins and their annotated locations for XP_005256158.1

      UniProtKB/TrEMBL
      B4DN17
      Conserved Domains (2) summary
      cd12270
      Location:287 → 358
      RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:1 → 191
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    7. XM_047434497.1 → XP_047290453.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DN17
      Conserved Domains (2) summary
      cd12270
      Location:287 → 358
      RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:10 → 187
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    8. XM_011523280.3 → XP_011521582.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      See identical proteins and their annotated locations for XP_011521582.1

      UniProtKB/TrEMBL
      B4DN17
      Conserved Domains (2) summary
      cd12270
      Location:287 → 358
      RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
      cl00360
      Location:1 → 191
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    9. XM_047434504.1 → XP_047290460.1  methenyltetrahydrofolate synthase domain-containing protein isoform X12

      UniProtKB/TrEMBL
      B3KUB0

    10. XM_047434507.1 → XP_047290463.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

      UniProtKB/TrEMBL
      B3KUB0, F5H0M7

    11. XM_047434503.1 → XP_047290459.1  methenyltetrahydrofolate synthase domain-containing protein isoform X11

      UniProtKB/TrEMBL
      B3KUB0

    12. XM_047434500.1 → XP_047290456.1  methenyltetrahydrofolate synthase domain-containing protein isoform X5

      UniProtKB/TrEMBL
      H3BSD1

    13. XM_011523282.3 → XP_011521584.1  methenyltetrahydrofolate synthase domain-containing protein isoform X6

      Conserved Domains (1) summary
      COG0212
      Location:10 → 211
      FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]

    14. XM_047434501.1 → XP_047290457.1  methenyltetrahydrofolate synthase domain-containing protein isoform X9

      UniProtKB/TrEMBL
      H3BSD1
      Related
      ENSP00000456652.2, ENST00000562940.6

    15. XM_047434502.1 → XP_047290458.1  methenyltetrahydrofolate synthase domain-containing protein isoform X10

    16. XM_047434505.1 → XP_047290461.1  methenyltetrahydrofolate synthase domain-containing protein isoform X13

      UniProtKB/TrEMBL
      H3BNE5
      Related
      ENSP00000454807.1, ENST00000569000.5

    17. XM_011523284.3 → XP_011521586.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

      UniProtKB/TrEMBL
      H3BSD1
      Conserved Domains (1) summary
      cl00360
      Location:10 → 207
      5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

    18. XM_011523283.3 → XP_011521585.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

      Conserved Domains (1) summary
      COG0212
      Location:10 → 211
      FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]

    19. XM_047434508.1 → XP_047290464.1  methenyltetrahydrofolate synthase domain-containing protein isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      92598486..92623551 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313727.1 → XP_054169702.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

      UniProtKB/TrEMBL
      B3KUB0

    2. XM_054313713.1 → XP_054169688.1  methenyltetrahydrofolate synthase domain-containing protein isoform X2

      UniProtKB/TrEMBL
      B4DN17

    3. XM_054313712.1 → XP_054169687.1  methenyltetrahydrofolate synthase domain-containing protein isoform X1

      UniProtKB/TrEMBL
      B4DN17

    4. XM_054313717.1 → XP_054169692.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DN17

    5. XM_054313714.1 → XP_054169689.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      UniProtKB/TrEMBL
      B4DN17

    6. XM_054313715.1 → XP_054169690.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

      UniProtKB/TrEMBL
      B4DN17

    7. XM_054313716.1 → XP_054169691.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

      UniProtKB/TrEMBL
      B4DN17

    8. XM_054313725.1 → XP_054169700.1  methenyltetrahydrofolate synthase domain-containing protein isoform X12

      UniProtKB/TrEMBL
      B3KUB0

    9. XM_054313728.1 → XP_054169703.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

      UniProtKB/TrEMBL
      B3KUB0

    10. XM_054313724.1 → XP_054169699.1  methenyltetrahydrofolate synthase domain-containing protein isoform X11

      UniProtKB/TrEMBL
      B3KUB0

    11. XM_054313718.1 → XP_054169693.1  methenyltetrahydrofolate synthase domain-containing protein isoform X5

      UniProtKB/TrEMBL
      H3BSD1

    12. XM_054313719.1 → XP_054169694.1  methenyltetrahydrofolate synthase domain-containing protein isoform X6

    13. XM_054313722.1 → XP_054169697.1  methenyltetrahydrofolate synthase domain-containing protein isoform X9

      UniProtKB/TrEMBL
      H3BSD1

    14. XM_054313723.1 → XP_054169698.1  methenyltetrahydrofolate synthase domain-containing protein isoform X10

    15. XM_054313726.1 → XP_054169701.1  methenyltetrahydrofolate synthase domain-containing protein isoform X13

      UniProtKB/TrEMBL
      H3BNE5

    16. XM_054313721.1 → XP_054169696.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

      UniProtKB/TrEMBL
      H3BSD1

    17. XM_054313720.1 → XP_054169695.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    18. XM_054313729.1 → XP_054169704.1  methenyltetrahydrofolate synthase domain-containing protein isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M296.2 GenPept UniProtKB/Swiss-Prot:Q2M296

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