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

Gene ID: 25902, updated on 15-Nov-2014
Official Symbol
MTHFD1Lprovided by HGNC
Official Full Name
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-likeprovided by HGNC
Primary source
HGNC:HGNC:21055
Locus tag
RP1-292B18.2
See related
Ensembl:ENSG00000120254; HPRD:09967; MIM:611427; Vega:OTTHUMG00000015828
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]
See MTHFD1L in Epigenomics, MapViewer
Location:
6q25.1
Exon count:
32
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (150865679..151101887)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151186815..151423023)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene alpha-methylacyl-CoA racemase pseudogene Neighboring gene pleckstrin homology domain containing, family G (with RhoGef domain) member 1 Neighboring gene phosducin-like 3 pseudogene 5 Neighboring gene ADP-ribosylation factor-like protein 4A-like Neighboring gene ribosomal protein L32 pseudogene 16 Neighboring gene uncharacterized LOC102723831 Neighboring gene ribosomal protein S12 pseudogene 11 Neighboring gene A kinase (PRKA) anchor protein 12 Neighboring gene RNA, Ro-associated Y4 pseudogene 20

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
NHGRI GWA Catalog
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
NHGRI GWA Catalog
Genomewide association analysis of coronary artery disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21145, DKFZp586G1517

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
formate-tetrahydrofolate ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT methenyltetrahydrofolate cyclohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
NOT methylenetetrahydrofolate dehydrogenase (NADP+) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
folic acid-containing compound biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
folic acid-containing compound metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
formate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
one-carbon metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate interconversion IEA
Inferred from Electronic Annotation
more info
 
tetrahydrofolate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
NOT cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
monofunctional C1-tetrahydrofolate synthase, mitochondrial
Names
monofunctional C1-tetrahydrofolate synthase, mitochondrial
10-formyl-THF synthetase
formyltetrahydrofolate synthetase domain containing 1
NP_001229696.1
NP_001229697.1
NP_001229698.1
NP_056255.2

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_029185.1 

    Range
    5001..241209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_001229696.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC110319, BC144368, DB727926
    Consensus CDS
    CCDS75535.1
    UniProtKB/TrEMBL
    B7ZM99
    UniProtKB/Swiss-Prot
    Q6UB35
    Related
    ENSP00000478253, ENST00000611279
    Conserved Domains (4) summary
    cd05212
    Location:193336
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:72289
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    cd00477
    Location:378962
    FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  2. NM_001242768.1NP_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
    B2RD24
    UniProtKB/Swiss-Prot
    Q6UB35
    Related
    ENSP00000479539, ENST00000618312
    Conserved Domains (4) summary
    cd05212
    Location:127270
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:9223
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    cd00477
    Location:312896
    FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
    pfam00763
    Location:10114
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  3. NM_001242769.1NP_001229698.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 4 precursor

    See proteins identical to 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, OTTHUMP00000274933, ENST00000367307, OTTHUMT00000474291
    Conserved Domains (3) summary
    COG0190
    Location:72228
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    cl17226
    Location:193260
    NAD_bind_amino_acid_DH; NAD(P) binding domain of amino acid dehydrogenase-like proteins
  4. NM_015440.4NP_056255.2  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor

    See proteins identical to 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
    Q6UB35
    Related
    ENSP00000356290, OTTHUMP00000017418, ENST00000367321, OTTHUMT00000042699
    Conserved Domains (4) summary
    cd05212
    Location:193335
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:72288
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    cd00477
    Location:377961
    FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    148750394..148986848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    150865679..151101887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266910.2XP_005266967.1  

    Conserved Domains (4) summary
    cd05212
    Location:193336
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:72289
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    cd00477
    Location:378950
    FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  2. XM_005266907.2XP_005266964.1  

    Conserved Domains (4) summary
    cd05212
    Location:193335
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:72288
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    cd00477
    Location:377949
    FTHFS; Formyltetrahydrofolate synthetase (FTHFS) catalyzes the ATP-dependent activation of formate ion via its addition to the N10 position of tetrahydrofolate. FTHFS is a highly expressed key enzyme in both the Wood-Ljungdahl pathway of autotrophic CO2 ...
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
  3. XM_005266911.2XP_005266968.1  

    Conserved Domains (4) summary
    cd05212
    Location:193336
    NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
    COG0190
    Location:72289
    FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme metabolism]
    pfam00763
    Location:74180
    THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    cl17203
    Location:353605
    Fer4_NifH; The Fer4_NifH superfamily contains a variety of proteins which share a common ATP-binding domain. Functionally, proteins in this superfamily use the energy from hydrolysis of NTP to transfer electron or ion.

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    151450554..151687113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)