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    pug pugilist [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 41279, updated on 9-Dec-2024

    Summary

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    Official Symbol
    pugprovided by FlyBase
    Official Full Name
    pugilistprovided by FlyBase
    Primary source
    FLYBASE:FBgn0020385
    Locus tag
    Dmel_CG4067
    See related
    AllianceGenome:FB:FBgn0020385
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    bs14h02.y1; CG4067; Dmel\CG4067; MTHFD; Pug; pugD
    Summary
    Predicted to enable methenyltetrahydrofolate cyclohydrolase activity and methylenetetrahydrofolate dehydrogenase (NADP+) activity. Predicted to be involved in tetrahydrofolate interconversion. Located in cytoplasm. Is expressed in several structures, including adult brain; adult brain cell body rind; adult head; embryonic/larval midgut primordium; and visceral mesoderm derivative. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to several human genes including MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See pug in Genome Data Viewer
    Location:
    86C4-86C4; 3-50 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (10696534..10703316)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (6522256..6529038)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR44230 Neighboring gene Skeletor Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Gene targeting by homologous recombination: a powerful addition to the genetic arsenal for Drosophila geneticists. Rong YS. Biochem Biophys Res Commun, 2002 Sep 13. PMID 12220499
    2. The pugilistDominant Mutation of Drosophila melanogaster: A Simple-Sequence Repeat Disorder Reveals Localized Transport in the Eye. Rong YS, et al. PLoS One, 2016. PMID 26999432, Free PMC Article
    3. A targeted gene knockout in Drosophila. Rong YS, et al. Genetics, 2001 Mar. PMID 11238415, Free PMC Article
    4. Gene-targeting in Drosophila validated. Gloor GB. Trends Genet, 2001 Oct. PMID 11585643
    5. The homologous chromosome is an effective template for the repair of mitotic DNA double-strand breaks in Drosophila. Rong YS, et al. Genetics, 2003 Dec. PMID 14704169, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a metabolite vital for pigment formation is imported from the periphery of the eye, and pugD limits the extent of its transport towards the center of the eye.
      Title: The pugilistDominant Mutation of Drosophila melanogaster: A Simple-Sequence Repeat Disorder Reveals Localized Transport in the Eye.
    Submit: New GeneRIF Correction

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables formate-tetrahydrofolate ligase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables methenyltetrahydrofolate cyclohydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables methenyltetrahydrofolate cyclohydrolase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in amino acid biosynthetic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in tetrahydrofolate interconversion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tetrahydrofolate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    pugilist
    Names
    CG4067-PA
    CG4067-PB
    CG4067-PC
    CG4067-PD
    CG4067-PE
    pug-PA
    pug-PB
    pug-PC
    pug-PD
    pug-PE
    NP_001014614.1
    NP_001247028.1
    NP_477254.1
    NP_731489.2
    NP_731490.1

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      10696534..10703316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_169350.3 → NP_731489.2  pugilist, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_731489.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A4V2N7, A4V2N9, O96553, Q5BIE6, Q8T0P2
      UniProtKB/TrEMBL
      E8NH74, I1WYH4
      Related
      FBpp0081741
      Conserved Domains (4) summary
      cd01080
      Location:154 → 324
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:39 → 330
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:40 → 159
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      pfam01268
      Location:350 → 968
      FTHFS; Formate--tetrahydrofolate ligase

    2. NM_001014614.2 → NP_001014614.1  pugilist, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001014614.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A4V2N7, A4V2N9, O96553, Q5BIE6, Q8T0P2
      UniProtKB/TrEMBL
      E8NH74, I1WYH4
      Conserved Domains (4) summary
      cd01080
      Location:154 → 324
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:39 → 330
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:40 → 159
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      pfam01268
      Location:350 → 968
      FTHFS; Formate--tetrahydrofolate ligase

    3. NM_001260099.1 → NP_001247028.1  pugilist, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001247028.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4K623, I1WYH4
      Conserved Domains (4) summary
      cd01080
      Location:151 → 321
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:36 → 327
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:37 → 156
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      pfam01268
      Location:347 → 965
      FTHFS; Formate--tetrahydrofolate ligase

    4. NM_057906.4 → NP_477254.1  pugilist, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_477254.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      I1WYH4
      Related
      FBpp0081742
      Conserved Domains (4) summary
      cd01080
      Location:120 → 290
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:5 → 296
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:6 → 125
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      pfam01268
      Location:316 → 934
      FTHFS; Formate--tetrahydrofolate ligase

    5. NM_169351.2 → NP_731490.1  pugilist, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_731490.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      I1WYH4
      Related
      FBpp0081743
      Conserved Domains (4) summary
      cd01080
      Location:120 → 290
      NAD_bind_m-THF_DH_Cyclohyd; NADP binding domain of methylene-tetrahydrofolate dehydrogenase/cyclohydrolase
      COG0190
      Location:5 → 296
      FolD; 5,10-methylene-tetrahydrofolate dehydrogenase/Methenyl tetrahydrofolate cyclohydrolase [Coenzyme transport and metabolism]
      pfam00763
      Location:6 → 125
      THF_DHG_CYH; Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
      pfam01268
      Location:316 → 934
      FTHFS; Formate--tetrahydrofolate ligase
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4K623 A0A0B4K623
    O96553.4 O96553

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