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pug pugilist [ Drosophila melanogaster (fruit fly) ]

Gene ID: 41279, updated on 14-Nov-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, Nov 2024]
Orthologs
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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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