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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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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