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Mthfd1l methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [ Mus musculus (house mouse) ]

Gene ID: 270685, updated on 5-Mar-2024

Summary

Official Symbol
Mthfd1lprovided by MGI
Official Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-likeprovided by MGI
Primary source
MGI:MGI:1924836
See related
Ensembl:ENSMUSG00000040675 AllianceGenome:MGI:1924836
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Fthfsdc1; 2410004L15Rik
Summary
Predicted to enable ATP binding activity; formate-tetrahydrofolate ligase activity; and protein homodimerization activity. Involved in embryonic neurocranium morphogenesis; embryonic viscerocranium morphogenesis; and neural tube closure. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in liver E14 (RPKM 10.2), liver E14.5 (RPKM 8.8) and 21 other tissues See more
Orthologs
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Genomic context

See Mthfd1l in Genome Data Viewer
Location:
10 A1; 10 2.06 cM
Exon count:
30
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (3918282..4117081)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (3972892..4167081)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 1 Neighboring gene STARR-seq mESC enhancer starr_25666 Neighboring gene mitochondrial ribosomal protein S36 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2926 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ring finger protein 4 pseudogene Neighboring gene STARR-seq mESC enhancer starr_25663 Neighboring gene STARR-seq mESC enhancer starr_25662 Neighboring gene CapStarr-seq enhancer MGSCv37_chr10:6246193-6246440 Neighboring gene STARR-seq mESC enhancer starr_25660 Neighboring gene predicted gene, 40591 Neighboring gene STARR-seq mESC enhancer starr_25659 Neighboring gene predicted gene, 25515 Neighboring gene STARR-seq mESC enhancer starr_25656 Neighboring gene predicted gene, 25369 Neighboring gene predicted gene, 30570

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (2)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables formate-tetrahydrofolate ligase activity ISO
Inferred from Sequence Orthology
more info
 
enables ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein homodimerization activity 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 mitochondrion HDA 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 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
monofunctional C1-tetrahydrofolate synthase, mitochondrial
Names
formyltetrahydrofolate synthetase domain containing 1
NP_001164256.1
NP_001164257.1
NP_758512.3
XP_036011688.1
XP_036011689.1

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.

mRNA and Protein(s)

  1. NM_001170785.1NP_001164256.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001164256.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK036284
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000112897.2, ENSMUST00000120585.8
    Conserved Domains (4) summary
    PLN02759
    Location:351977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
  2. NM_001170786.1NP_001164257.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001164257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK160025
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000036178.8, ENSMUST00000043735.8
    Conserved Domains (4) summary
    PLN02759
    Location:351977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain
  3. NM_172308.4NP_758512.3  monofunctional C1-tetrahydrofolate synthase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_758512.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC153570, AC159148, AK028211
    Consensus CDS
    CCDS56672.1
    UniProtKB/Swiss-Prot
    Q3TVQ0, Q3V3R1, Q3V402, Q80V98, Q8CAL0, Q8K2N5
    Related
    ENSMUSP00000112870.2, ENSMUST00000117291.8
    Conserved Domains (4) summary
    PLN02759
    Location:351977
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:82287
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
    pfam00763
    Location:73179
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    pfam02882
    Location:182337
    THF_DHG_CYH_C; Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    3918282..4117081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036155795.1XP_036011688.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01268
    Location:2270
    FTHFS; Formate--tetrahydrofolate ligase
  2. XM_036155796.1XP_036011689.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform X1

    Conserved Domains (1) summary
    pfam01268
    Location:2270
    FTHFS; Formate--tetrahydrofolate ligase

RNA

  1. XR_004936188.1 RNA Sequence

  2. XR_004936189.1 RNA Sequence