Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Mthfd1provided by RGD
Official Full Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1provided by RGD
Primary source: RGD:708531
See related: Ensembl:ENSRNOG00000005602 AllianceGenome:RGD:708531
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity. Involved in nucleotide metabolic process; one-carbon metabolic process; and response to nitrogen dioxide. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; cleft lip; developmental cardiac valvular defect; neural tube defect (multiple); and tetralogy of Fallot. Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 505.1), Liver (RPKM 397.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 6q24

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	6	NC_086024.1 (100713510..100781013)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	6	NC_051341.1 (94977862..95045375)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	6	NC_005105.4 (99282850..99350367)

Chromosome 6 - NC_086024.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C-1-tetrahydrofolate synthase levels were elevated in proestrous as compared with estrous
Title: Hippocampal levels of gamma-enolase, C-1-tetrahydrofolate synthase and serotransferrin fluctuate over the estrous cycle in the rat.
Gene encodes the cytoplasmic isozyme of C1-tetrahydrofolate (THF) synthase, a trifunctional enzyme containing formyl-THF synthetase, methenyl-THF cyclohydrolase, and methylene-THF dehydrogenase activities (EC Numbers: 1.5.1.5, 3.5.4.9, 6.3.4.3).
Title: Characterization of the rat cytoplasmic C1-tetrahydrofolate synthase gene and analysis of its expression in liver regeneration and fetal development.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables formate-tetrahydrofolate ligase activity	IEA Inferred from Electronic Annotation more info
enables formate-tetrahydrofolate ligase activity	ISO Inferred from Sequence Orthology more info
enables formate-tetrahydrofolate ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables formate-tetrahydrofolate ligase activity	TAS Traceable Author Statement more info	PubMed
enables methenyltetrahydrofolate cyclohydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables methenyltetrahydrofolate cyclohydrolase activity	IEA Inferred from Electronic Annotation more info
enables methenyltetrahydrofolate cyclohydrolase activity	ISO Inferred from Sequence Orthology more info
enables methenyltetrahydrofolate cyclohydrolase activity	ISS Inferred from Sequence or Structural Similarity more info
enables methenyltetrahydrofolate cyclohydrolase activity	TAS Traceable Author Statement more info	PubMed
enables methylenetetrahydrofolate dehydrogenase (NAD+) activity	IEA Inferred from Electronic Annotation more info
enables methylenetetrahydrofolate dehydrogenase (NAD+) activity	ISO Inferred from Sequence Orthology more info
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	IBA Inferred from Biological aspect of Ancestor more info
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	IEA Inferred from Electronic Annotation more info
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	ISO Inferred from Sequence Orthology more info
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity	ISS Inferred from Sequence or Structural Similarity more info
enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	ISO Inferred from Sequence Orthology more info
enables methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in 10-formyltetrahydrofolate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 10-formyltetrahydrofolate biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in histidine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in methionine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in methionine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in methionine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	ISO Inferred from Sequence Orthology more info
involved_in neutrophil homeostasis	IEA Inferred from Electronic Annotation more info
involved_in neutrophil homeostasis	ISO Inferred from Sequence Orthology more info
involved_in one-carbon metabolic process	IEP Inferred from Expression Pattern more info	PubMed
involved_in one-carbon metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of purine nucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in purine nucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of purine nucleotide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in purine ribonucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of purine ribonucleotide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in response to nitrogen dioxide	IEP Inferred from Expression Pattern more info	PubMed
involved_in serine family amino acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in serine family amino acid biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in serine family amino acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in somite development	IEA Inferred from Electronic Annotation more info
involved_in somite development	ISO Inferred from Sequence Orthology more info
involved_in tetrahydrofolate interconversion	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrofolate interconversion	IEA Inferred from Electronic Annotation more info
involved_in tetrahydrofolate interconversion	ISO Inferred from Sequence Orthology more info
involved_in tetrahydrofolate interconversion	ISS Inferred from Sequence or Structural Similarity more info
involved_in tetrahydrofolate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in transsulfuration	IEA Inferred from Electronic Annotation more info
involved_in transsulfuration	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: C-1-tetrahydrofolate synthase, cytoplasmic

Names: C1-THF synthase; C1-tetrahydrofolate synthase; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase; methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase

NP_071953.2

EC 1.5.1.5

EC 3.5.4.9

EC 6.3.4.3

XP_006240311.1

EC 1.5.1.5

EC 3.5.4.9

EC 6.3.4.3

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)

NM_022508.2 → NP_071953.2 C-1-tetrahydrofolate synthase, cytoplasmic

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000006

UniProtKB/Swiss-Prot

P27653, Q62808

UniProtKB/TrEMBL

A6HCA0, G3V6S5, Q5EBC3

Related

ENSRNOP00000008374.3, ENSRNOT00000008374.4

Conserved Domains (2) summary

PLN02759
Location:309 → 935

PLN02759; Formate--tetrahydrofolate ligase

COG0190
Location:6 → 297

FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086024.1 Reference GRCr8

Range

100713510..100781013

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006240249.5 → XP_006240311.1 C-1-tetrahydrofolate synthase, cytoplasmic isoform X1

UniProtKB/Swiss-Prot

P27653, Q62808

UniProtKB/TrEMBL

A0A8I5ZJK8, Q5EBC3

Related

ENSRNOP00000077791.1

Conserved Domains (4) summary

cd01080
Location:126 → 298

NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase

PLN02759
Location:315 → 941

PLN02759; Formate--tetrahydrofolate ligase

COG0190
Location:17 → 303

FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

pfam00763
Location:18 → 131

THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain