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MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [ Homo sapiens (human) ]

Gene ID: 4522, updated on 6-Jan-2019

Summary

Official Symbol
MTHFD1provided by HGNC
Official Full Name
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1provided by HGNC
Primary source
HGNC:HGNC:7432
See related
Ensembl:ENSG00000100714 MIM:172460
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
CIMAH; MTHFC; MTHFD
Summary
This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
Expression
Broad expression in liver (RPKM 96.4), fat (RPKM 36.5) and 22 other tissues See more
Orthologs

Genomic context

See MTHFD1 in Genome Data Viewer
Location:
14q23.3
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (64388041..64460007)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64854754..64926725)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene estrogen receptor 2 Neighboring gene testis expressed 21, pseudogene Neighboring gene zinc finger and BTB domain containing 25 Neighboring gene A-kinase anchoring protein 5 Neighboring gene uncharacterized LOC102723809 Neighboring gene zinc finger and BTB domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
MedGen: C4540434 OMIM: 617780 GeneReviews: Not available
not available
Neural tube defects, folate-sensitive
MedGen: C1866558 OMIM: 601634 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
formate-tetrahydrofolate ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
formate-tetrahydrofolate ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
formate-tetrahydrofolate ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
formate-tetrahydrofolate ligase activity TAS
Traceable Author Statement
more info
 
methenyltetrahydrofolate cyclohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methenyltetrahydrofolate cyclohydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
methenyltetrahydrofolate cyclohydrolase activity TAS
Traceable Author Statement
more info
 
methylenetetrahydrofolate dehydrogenase (NAD+) activity ISS
Inferred from Sequence or Structural Similarity
more info
 
methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity IDA
Inferred from Direct Assay
more info
PubMed 
methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
10-formyltetrahydrofolate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
10-formyltetrahydrofolate biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
10-formyltetrahydrofolate biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic neurocranium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic viscerocranium morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
folic acid metabolic process TAS
Traceable Author Statement
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
histidine biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
methionine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
methionine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil homeostasis IEA
Inferred from Electronic Annotation
more info
 
one-carbon metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
purine nucleotide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
serine family amino acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine family amino acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
somite development ISS
Inferred from Sequence or Structural Similarity
more info
 
tetrahydrofolate interconversion IDA
Inferred from Direct Assay
more info
PubMed 
tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate interconversion ISS
Inferred from Sequence or Structural Similarity
more info
 
transsulfuration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
mitochondrion TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
C-1-tetrahydrofolate synthase, cytoplasmic
Names
5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase
C1-THF synthase
cytoplasmic C-1-tetrahydrofolate synthase
epididymis secretory sperm binding protein
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
NP_005947.3

NCBI Reference Sequences (RefSeq)

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_012450.2 RefSeqGene

    Range
    5313..76985
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1243

mRNA and Protein(s)

  1. NM_001364837.1NP_001351766.1  C-1-tetrahydrofolate synthase, cytoplasmic isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK302747, AL122035
    Conserved Domains (2) summary
    PLN02759
    Location:310907
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:6294
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
  2. NM_005956.4NP_005947.3  C-1-tetrahydrofolate synthase, cytoplasmic isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL122035, BQ959308, J04031
    Consensus CDS
    CCDS9763.1
    UniProtKB/Swiss-Prot
    P11586
    Related
    ENSP00000216605.8, ENST00000216605.12
    Conserved Domains (2) summary
    PLN02759
    Location:310935
    PLN02759; Formate--tetrahydrofolate ligase
    COG0190
    Location:6294
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    64388041..64460007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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