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pug pugilist [ Drosophila melanogaster (fruit fly) ]

Gene ID: 41279, updated on 19-Jun-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 head; anterior endoderm; anterior endoderm anlage; embryonic/larval fat body; and extended germ band embryo. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; cleft lip; developmental cardiac valvular defect; neural tube defect (multiple); and tetralogy of Fallot. Orthologous to several human genes including MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Apr 2022]
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. 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
  2. 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
  3. 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
  4. Gene-targeting in Drosophila validated. Gloor GB. Trends Genet, 2001 Oct. PMID 11585643
  5. A targeted gene knockout in Drosophila. Rong YS, et al. Genetics, 2001 Mar. PMID 11238415, Free PMC Article

See all (55) 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 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
  
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
  

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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