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

Gene ID: 25902, updated on 3-Nov-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
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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. Genetic polymorphism rs6922269 in the MTHFD1L gene is associated with survival and baseline active vitamin B12 levels in post-acute coronary syndromes patients. Palmer BR, et al. PLoS One, 2014. PMID 24618918, Free PMC Article
  2. A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma. Sugiura T, et al. Biochem Biophys Res Commun, 2004 Feb 27. PMID 15013446
  3. 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
  4. Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases. Christensen KE, et al. Vitam Horm, 2008. PMID 18804703
  5. The role of mitochondrial folate enzyme MTHFD1L in esophageal squamous cell carcinoma. Yang YS, et al. Scand J Gastroenterol, 2018 May. PMID 29171320

See all (140) 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)

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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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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