Display Settings:

Format

Send to:

Choose Destination

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

    Gene ID: 25902, updated on 19-May-2012

    Summary

    Official Symbol
    MTHFD1Lprovided by HGNC
    Official Full Name
    methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-likeprovided by HGNC
    Primary source
    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; RP1-292B18.2; FLJ21145; DKFZp586G1517
    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]

    Genomic context

    Location :
    6q25.1
    Sequence :
    Chromosome: 6; NC_000006.11 (151186815..151423023)
    See MTHFD1L in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic 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 Neighboring gene uncharacterized LOC100507662 Neighboring gene ribosomal protein L32 pseudogene 16 Neighboring gene ribosomal protein S12 pseudogene 11 Neighboring gene A kinase (PRKA) anchor protein 12 Neighboring gene RNA, Ro-associated Y4 pseudogene 20

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:117409 BioGRID:107287 CASP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117409 BioGRID:114593 HGS    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117409 BioGRID:114879 MAGED1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117409 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117409 BioGRID:131884 USP50    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:117409 BioGRID:119068 WRAP73    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    formate-tetrahydrofolate ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    formate-tetrahydrofolate ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    methylenetetrahydrofolate dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    tetrahydrofolate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    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_029185.1 RefSeqGene

      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

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC110319, BC144368, DB727926
      UniProtKB/TrEMBL
      B7ZM99
      UniProtKB/Swiss-Prot
      Q6UB35
      Conserved Domains (4) summary
      cd00477
      Location:378962
      Blast Score: 2002
      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 ...
      cd05212
      Location:193336
      Blast Score: 536
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:353979
      Blast Score: 2492
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:74180
      Blast Score: 202
      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
      UniProtKB/TrEMBL
      B2RD24
      UniProtKB/Swiss-Prot
      Q6UB35
      Conserved Domains (4) summary
      cd00477
      Location:312896
      Blast Score: 2002
      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 ...
      cd05212
      Location:127270
      Blast Score: 537
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:287913
      Blast Score: 2497
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:10114
      Blast Score: 198
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
    3. NM_001242769.1NP_001229698.1  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 4 precursor

      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, ENST00000367307
      Conserved Domains (2) summary
      pfam00763
      Location:74180
      Blast Score: 196
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      cl09931
      Location:193260
      Blast Score: 275
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins
    4. NM_015440.4NP_056255.2  monofunctional C1-tetrahydrofolate synthase, mitochondrial isoform 2 precursor

      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
      cd00477
      Location:377961
      Blast Score: 2002
      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 ...
      cd05212
      Location:193335
      Blast Score: 548
      NAD_bind_m-THF_DH_Cyclohyd_like; NAD(P) binding domain of methylene-tetrahydrofolate dehydrogenase and methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      PLN02759
      Location:352978
      Blast Score: 2492
      PLN02759; Formate--tetrahydrofolate ligase
      pfam00763
      Location:74180
      Blast Score: 202
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      151186815..151423023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

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

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL035086.12 CAI42788.1
      CAI42789.1
      CAI42791.1
      CAI42792.1
      CAI42793.1
      CAI42794.1
      CAI42795.1
    genomic AL049694.9 CAI95772.1
      CAI95773.1
      CAI95774.1
      CAI95775.1
    genomic AL049694.9 CAI95772.1
      CAI95773.1
      CAI95774.1
      CAI95775.1
    genomic AL133260.12 CAI95678.1
      CAI95679.1
      CAI95680.1
    genomic AL133260.12 CAI95678.1
      CAI95679.1
      CAI95680.1
    genomic CH471051.2 EAW47760.1
      EAW47761.1
      EAW47762.1
      EAW47763.1
    genomic CS482713.1 CAM36319.1
    genomic CS482716.1 CAM36320.1
    genomic HB883499.1 CBF65969.1
    genomic HB895224.1 CBF74049.1
    genomic HC940908.1 CBU90841.1
    genomic HC952633.1 CBU96477.1
    mRNA AA478842.1 None
    mRNA AB127387.1 BAD93193.1
    mRNA AK024798.1 BAB15009.1
    mRNA AK127089.1 None
    mRNA AK310342.1 None
    mRNA AK315378.1 BAG37771.1
    mRNA AL117452.1 CAB55934.1
    mRNA AV704883.1 None
    mRNA AW593866.1 None
    mRNA AY374130.1 AAQ82696.1
    mRNA AY374131.1 AAQ82697.1
    mRNA BC008629.1 AAH08629.1
    mRNA BC017477.1 AAH17477.2
    mRNA BC110319.1 AAI10320.1
    mRNA BC136685.1 AAI36686.1
    mRNA BC144368.1 AAI44369.1
    mRNA BC144369.1 None
    mRNA BE735249.1 None
    mRNA BQ062382.1 None
    mRNA DA195967.1 None
    mRNA DB727926.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4VXV2 GenPept UniProtKB/TrEMBL:Q4VXV2
    Q5JYA1 GenPept UniProtKB/TrEMBL:Q5JYA1
    Q5JYA3 GenPept UniProtKB/TrEMBL:Q5JYA3
    Q5JYA4 GenPept UniProtKB/TrEMBL:Q5JYA4
    Q5JYA5 GenPept UniProtKB/TrEMBL:Q5JYA5
    Q5JYA7 GenPept UniProtKB/TrEMBL:Q5JYA7
    Q5JYA8 GenPept UniProtKB/TrEMBL:Q5JYA8
    Q6UB35.1 GenPept UniProtKB/Swiss-Prot:Q6UB35

      Supplemental Content

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...