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    MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like [ Homo sapiens (human) ]

    Gene ID: 25902, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MTHFD1Lprovided by HGNC
    Official Full Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 likeprovided by HGNC
    Primary source
    HGNC:HGNC:21055
    See related
    Ensembl:ENSG00000120254 MIM:611427; AllianceGenome:HGNC:21055
    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
    FTHFSDC1; MTC1THFS; dJ292B18.2
    Summary
    The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
    Expression
    Ubiquitous expression in ovary (RPKM 2.3), thyroid (RPKM 2.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MTHFD1L in Genome Data Viewer
    Location:
    6q25.1
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (150865702..151101887)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152066259..152302476)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151186838..151423023)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene pleckstrin homology and RhoGEF domain containing G1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:151169980-151171179 Neighboring gene uncharacterized LOC124901431 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:151177675-151178874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17682 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17684 Neighboring gene PDCL3 pseudogene 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151227577-151228082 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:151243887-151244135 Neighboring gene RNA, U6 small nuclear 302, pseudogene Neighboring gene ADP ribosylation factor like GTPase 4A pseudogene 5 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151330831-151331567 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151330092-151330830 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:151357191-151358390 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:151381202-151382401 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90950 Neighboring gene uncharacterized LOC124901432 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151410975-151411808 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:151413024-151414223 Neighboring gene Sharpr-MPRA regulatory region 10334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151450407-151451398 Neighboring gene ribosomal protein L32 pseudogene 16 Neighboring gene microRNA 12131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151485034-151485534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:151485535-151486035 Neighboring gene uncharacterized LOC102723831 Neighboring gene RNA, U6 small nuclear 300, pseudogene

    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 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. The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma. Yang YS, et al. Scand J Gastroenterol, 2018 May. PMID 29171320
    2. The MTHFD1L gene rs11754661 marker is associated with susceptibility to Alzheimer's disease in the Chinese Han population. Ren RJ, et al. J Neurol Sci, 2011 Sep 15. PMID 21741665
    3. Integrative analysis reveals methylenetetrahydrofolate dehydrogenase 1-like as an independent shared diagnostic and prognostic biomarker in five different human cancers. Sial N, et al. Biosci Rep, 2022 Jan 28. PMID 34908119, Free PMC Article
    4. Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma. Lee D, et al. J Clin Invest, 2017 May 1. PMID 28394261, Free PMC Article
    5. MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway. Wang L, et al. J Recept Signal Transduct Res, 2020 Dec. PMID 32456526

    See all (136) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circ-MTHFD1L induces HR repair to promote gemcitabine resistance via the miR-615-3p/RPN6 axis in pancreatic ductal adenocarcinoma.
      Title: Circular RNA circ-MTHFD1L induces HR repair to promote gemcitabine resistance via the miR-615-3p/RPN6 axis in pancreatic ductal adenocarcinoma.
    2. Integrative analysis reveals methylenetetrahydrofolate dehydrogenase 1-like as an independent shared diagnostic and prognostic biomarker in five different human cancers.
      Title: Integrative analysis reveals methylenetetrahydrofolate dehydrogenase 1-like as an independent shared diagnostic and prognostic biomarker in five different human cancers.
    3. MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway.
      Title: MTHFD1L as a folate cycle enzyme correlates with prognostic outcome and its knockdown impairs cell invasive behaviors in osteosarcoma via mediating the AKT/mTOR pathway.
    4. Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner's curse effect.
      Title: Sequence variation at the MTHFD1L-AKAP12 and FOPNL loci does not influence multiple myeloma survival in Sweden.
    5. MTHFD1L protein and RNA expression levels were significantly upregulated in esophageal squamous cell carcinoma tissue as compared with normal tissue. High expression of MTHFD1 was also detected in two esophageal cancer cell lines (TE-1 and EC109).
      Title: The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma.
    6. study identifies MTHFD1L in the folate cycle as an important metabolic pathway in cancer cells with the potential for therapeutic targeting
      Title: Folate cycle enzyme MTHFD1L confers metabolic advantages in hepatocellular carcinoma.
    7. Studies reported that the A allele of a polymorphism in a gene involved in folate metabolism, MTHFD1L, showed a genome-wide significant association with late-onset Alzheimer's Disease.
      Title: Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.
    8. rs6922269 variant at MTHFD1L gene could be an important prognostic factor for cardiovascular mortality in patients after ACS.
      Title: Rs6922269 marker at the MTHFD1L gene predict cardiovascular mortality in males after acute coronary syndrome.
    9. MTHFD1L rs6922269 genotype is associated with active vitamin B12 levels at baseline and may be a marker of prognostic risk in patients with established coronary heart disease.
      Title: Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients.
    10. Results indicate that miR-9 and MiR-197 specifically downregulate MTHFD1L in HEK293 and MCF-7 cells and that SNPrs7646 affects miR-197 binding to the MTHFD1L 3' UTR causing gene repression in the presence of the allele associated with neural tube defects.
      Title: An NTD-associated polymorphism in the 3' UTR of MTHFD1L can affect disease risk by altering miRNA binding.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
    EBI GWAS Catalog
    Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
    EBI GWAS Catalog
    Genomewide association analysis of coronary artery disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with MTHFD1L; interaction predicted to be relevant to purine pyrimidine biosynthesis PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ21145, DKFZp586G1517

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables formate-tetrahydrofolate ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables formate-tetrahydrofolate ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in 10-formyltetrahydrofolate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 10-formyltetrahydrofolate biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in embryonic neurocranium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in embryonic viscerocranium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in folic acid-containing compound metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in formate metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in neural tube closure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tetrahydrofolate interconversion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monofunctional C1-tetrahydrofolate synthase, mitochondrial
    Names
    10-formyl-THF synthetase
    formyltetrahydrofolate synthetase domain containing 1
    NP_001229696.1
    NP_001229697.1
    NP_001229698.1
    NP_001337415.1
    NP_001337416.1
    NP_001337417.1
    NP_001337418.1
    NP_001337419.1
    NP_001337420.1
    NP_001337421.1
    NP_001337422.1
    NP_056255.2
    XP_005266964.1
    XP_005266968.1
    XP_011534031.1
    XP_011534032.1
    XP_011534033.1
    XP_011534034.1
    XP_011534035.1
    XP_011534039.1
    XP_011534040.1
    XP_016866191.1
    XP_016866192.1
    XP_024302163.1
    XP_024302164.1
    XP_047274565.1
    XP_047274566.1
    XP_047274567.1
    XP_047274568.1
    XP_047274569.1
    XP_047274570.1
    XP_047274571.1
    XP_047274572.1
    XP_047274573.1
    XP_047274574.1
    XP_047274575.1
    XP_054211073.1
    XP_054211074.1
    XP_054211075.1
    XP_054211076.1
    XP_054211077.1
    XP_054211078.1
    XP_054211079.1
    XP_054211080.1
    XP_054211081.1
    XP_054211082.1
    XP_054211083.1
    XP_054211084.1
    XP_054211085.1
    XP_054211086.1
    XP_054211087.1
    XP_054211088.1
    XP_054211089.1
    XP_054211090.1
    XP_054211091.1
    XP_054211092.1
    XP_054211093.1
    XP_054211094.1

    NCBI Reference Sequences (RefSeq)

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    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_029185.2 RefSeqGene

      Range
      5024..241209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242767.2 → NP_001229696.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_001229696.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC110319, BC144368, DB727926
      Consensus CDS
      CCDS75535.1
      UniProtKB/TrEMBL
      B7ZM99
      Related
      ENSP00000478253.1, ENST00000611279.4
      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:353 → 979
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    2. NM_001242768.2 → NP_001229697.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK315378, BC110319, DA195967
      Consensus CDS
      CCDS75536.1
      UniProtKB/TrEMBL
      A0A087WVM4, B2RD24
      Related
      ENSP00000479539.1, ENST00000618312.4
      Conserved Domains (4) summary
      cd05212
      Location:127 → 270
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:287 → 913
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 223
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:10 → 114
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    3. NM_001242769.3 → NP_001229698.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 4 precursor

      See identical proteins and their annotated locations for NP_001229698.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus and lacks a single internal aa compared to isoform 1. Isoform 4 is thought to lack THF synthase activity.
      Source sequence(s)
      AW593866, AY374131, DB727926
      Consensus CDS
      CCDS56457.1
      UniProtKB/Swiss-Prot
      Q6UB35
      Related
      ENSP00000356276.4, ENST00000367307.8
      Conserved Domains (3) summary
      COG0190
      Location:72 → 228
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      cl21454
      Location:193 → 260
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001350486.1 → NP_001337415.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL035086, AL049694, AL133260
      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (3) summary
      cd05212
      Location:127 → 269
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:286 → 912
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 222
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

    5. NM_001350487.2 → NP_001337416.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL035086, AL049694, AL133260
      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (3) summary
      cd05212
      Location:83 → 225
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:242 → 868
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:9 → 70
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    6. NM_001350488.3 → NP_001337417.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 7 precursor

      Status: REVIEWED

      Source sequence(s)
      AL035086
      Conserved Domains (2) summary
      COG0190
      Location:72 → 229
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      cl25423
      Location:193 → 261
      NAD_bind_amino_acid_DH; NAD(P) binding domain of amino acid dehydrogenase-like proteins

    7. NM_001350489.3 → NP_001337418.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL035086
      Conserved Domains (1) summary
      COG0190
      Location:72 → 213
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

    8. NM_001350490.1 → NP_001337419.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL049694, AL133260
      Conserved Domains (1) summary
      pfam01268
      Location:2 → 270
      FTHFS; Formate--tetrahydrofolate ligase

    9. NM_001350491.3 → NP_001337420.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL035086
      Conserved Domains (2) summary
      COG0190
      Location:9 → 119
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      cl21454
      Location:83 → 151
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    10. NM_001350492.2 → NP_001337421.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variant 12, encodes isoform 11.
      Source sequence(s)
      AL035086, AL049694, AL133260
      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (3) summary
      cd05212
      Location:83 → 226
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:243 → 869
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:9 → 70
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    11. NM_001350493.1 → NP_001337422.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12), as well as variant 11, encodes isoform 11.
      Source sequence(s)
      AL035086, AL049694, AL133260
      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (3) summary
      cd05212
      Location:83 → 226
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:243 → 869
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:9 → 70
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    12. NM_015440.5 → NP_056255.2  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_056255.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AY374130, BC110319, DB727926
      Consensus CDS
      CCDS5228.1
      UniProtKB/Swiss-Prot
      Q2TBF3, Q6UB35, Q8WVW0, Q96HG8, Q9H789, Q9UFU8
      Related
      ENSP00000356290.3, ENST00000367321.8
      Conserved Domains (4) summary
      cd05212
      Location:193 → 335
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:352 → 978
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 288
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    RNA

    1. NR_146719.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL035086, AL049694, AL133260

    2. NR_146720.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL035086, AL049694, AL133260

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      150865702..151101887
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010702.3 → XP_016866191.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B7ZM99
      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:353 → 979
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    2. XM_017010703.3 → XP_016866192.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B7ZM99
      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:353 → 979
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    3. XM_011535729.4 → XP_011534031.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X4

      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:353 → 952
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    4. XM_047418610.1 → XP_047274566.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X5

    5. XM_047418609.1 → XP_047274565.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    6. XM_005266907.6 → XP_005266964.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X2

      Conserved Domains (4) summary
      cd05212
      Location:193 → 335
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:352 → 949
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:72 → 288
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    7. XM_047418616.1 → XP_047274572.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X14

    8. XM_047418615.1 → XP_047274571.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X13

    9. XM_047418614.1 → XP_047274570.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X12

    10. XM_011535737.4 → XP_011534039.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X15

      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      cl21455
      Location:353 → 709
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    11. XM_011535738.4 → XP_011534040.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X16

      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      cl21455
      Location:353 → 709
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    12. XM_047418617.1 → XP_047274573.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X17

    13. XM_005266911.6 → XP_005266968.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X18

      Conserved Domains (4) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:74 → 180
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      cl21455
      Location:353 → 605
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    14. XM_024446396.2 → XP_024302164.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X19

      Conserved Domains (3) summary
      cd05212
      Location:193 → 336
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:72 → 289
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      cl21455
      Location:353 → 420
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    15. XM_047418618.1 → XP_047274574.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X20

    16. XM_011535730.2 → XP_011534032.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X8

      Conserved Domains (4) summary
      cd05212
      Location:127 → 270
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:287 → 884
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 223
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:10 → 114
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    17. XM_011535731.3 → XP_011534033.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X9

      Conserved Domains (4) summary
      cd05212
      Location:127 → 269
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:286 → 883
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 222
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:10 → 114
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    18. XM_047418613.1 → XP_047274569.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X11

    19. XM_047418612.1 → XP_047274568.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

    20. XM_047418611.1 → XP_047274567.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X6

    21. XM_011535733.3 → XP_011534035.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

      See identical proteins and their annotated locations for XP_011534035.1

      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (4) summary
      cd05212
      Location:83 → 226
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:243 → 840
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 179
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:9 → 70
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    22. XM_011535732.3 → XP_011534034.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

      See identical proteins and their annotated locations for XP_011534034.1

      UniProtKB/TrEMBL
      B2RD24
      Conserved Domains (4) summary
      cd05212
      Location:83 → 226
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:243 → 840
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:9 → 179
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:9 → 70
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    23. XM_024446395.1 → XP_024302163.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X7

      Conserved Domains (3) summary
      cd05212
      Location:158 → 300
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:317 → 943
      PLN02759; Formate--tetrahydrofolate ligase
      COG0190
      Location:40 → 253
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

    24. XM_047418619.1 → XP_047274575.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X21

      Conserved Domains (1) summary
      pfam01268
      Location:2 → 270
      FTHFS; Formate--tetrahydrofolate ligase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      152066259..152302476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355100.1 → XP_054211075.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X3

      UniProtKB/TrEMBL
      B7ZM99

    2. XM_054355101.1 → XP_054211076.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X4

    3. XM_054355102.1 → XP_054211077.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X5

    4. XM_054355098.1 → XP_054211073.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    5. XM_054355099.1 → XP_054211074.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X2

    6. XM_054355113.1 → XP_054211088.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X14

    7. XM_054355112.1 → XP_054211087.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X13

    8. XM_054355111.1 → XP_054211086.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X12

    9. XM_054355114.1 → XP_054211089.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X15

    10. XM_054355115.1 → XP_054211090.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X16

    11. XM_054355116.1 → XP_054211091.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X17

    12. XM_054355117.1 → XP_054211092.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X18

    13. XM_054355118.1 → XP_054211093.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X19

    14. XM_054355119.1 → XP_054211094.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X20

    15. XM_054355105.1 → XP_054211080.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X8

    16. XM_054355106.1 → XP_054211081.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X9

    17. XM_054355110.1 → XP_054211085.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X11

    18. XM_054355109.1 → XP_054211084.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

    19. XM_054355103.1 → XP_054211078.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X6

    20. XM_054355108.1 → XP_054211083.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

    21. XM_054355107.1 → XP_054211082.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X10

    22. XM_054355104.1 → XP_054211079.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UB35.1 GenPept UniProtKB/Swiss-Prot:Q6UB35

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