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    spel1 spellchecker1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 34842, updated on 9-Dec-2024

    Summary

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    Official Symbol
    spel1provided by FlyBase
    Official Full Name
    spellchecker1provided by FlyBase
    Primary source
    FLYBASE:FBgn0015546
    Locus tag
    Dmel_CG4215
    See related
    AllianceGenome:FB:FBgn0015546
    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
    BG:DS01068.9; CG4215; Dmel\CG4215; Msh2; spel; spel-1; SPEL1
    Summary
    Predicted to enable ATP hydrolysis activity and mismatched DNA binding activity. Involved in interstrand cross-link repair; maintenance of DNA repeat elements; and mismatch repair. Predicted to be part of MutSalpha complex. Predicted to be active in nucleus. Human ortholog(s) of this gene implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Orthologous to human MSH2 (mutS homolog 2). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See spel1 in Genome Data Viewer
    Location:
    35A4-35B1; 2-50 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (14362069..14366840)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (14362069..14366840)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene long non-coding RNA:CR44851 Neighboring gene antisense RNA:CR43463 Neighboring gene Rab14 Neighboring gene Polypeptide N-acetylgalactosaminyltransferase 35A Neighboring gene pickpocket Neighboring gene elbow B

    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. Mismatch repair and mutational bias in microsatellite DNA. Ellegren H. Trends Genet, 2002 Nov. PMID 12414181
    2. Mismatch repair-driven mutational bias in D. melanogaster. Harr B, et al. Mol Cell, 2002 Jul. PMID 12150919
    3. Mismatch repair systems might facilitate the chromosomal recombination induced by N-nitrosodimethylamine, but not by N-nitrosodiethylamine, in Drosophila. Negishi T, et al. Mutagenesis, 2020 Mar 27. PMID 32109288
    4. A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage. Jackson SM, et al. Gene, 2005 Feb 28. PMID 15715978
    5. Drosophila bloom helicase maintains genome integrity by inhibiting recombination between divergent DNA sequences. Kappeler M, et al. Nucleic Acids Res, 2008 Dec. PMID 18978019, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ATP-dependent DNA damage sensor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables mismatched DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mismatched DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in interstrand cross-link repair IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in interstrand cross-link repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maintenance of DNA repeat elements IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mismatch repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mismatch repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mismatch repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in postreplication repair ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of MutSalpha complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    spellchecker1
    Names
    CG4215-PA
    CG4215-PD
    CG4215-PE
    CG4215-PF
    spel1-PA
    spel1-PD
    spel1-PE
    spel1-PF
    spellchecker
    spellchecker 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_033779.5 Reference assembly

      Range
      14362069..14366840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001259102.2 → NP_001246031.1  spellchecker1, isoform D [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246031.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      P43248, Q86BK6, Q9NKC4, Q9VJT0
      UniProtKB/TrEMBL
      M9ND86, Q0IGW6
      Conserved Domains (6) summary
      smart00533
      Location:324 → 643
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:617 → 852
      MutS_V; MutS domain V
      pfam01624
      Location:24 → 132
      MutS_I; MutS domain I
      pfam05188
      Location:149 → 287
      MutS_II; MutS domain II
      pfam05190
      Location:471 → 567
      MutS_IV; MutS family domain IV
      pfam05192
      Location:326 → 414
      MutS_III; MutS domain III

    2. NM_001299002.1 → NP_001285931.1  spellchecker1, isoform F [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001285931.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      P43248, Q86BK6, Q9NKC4, Q9VJT0
      UniProtKB/TrEMBL
      M9ND86, Q0IGW6
      Conserved Domains (6) summary
      smart00533
      Location:324 → 643
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:617 → 852
      MutS_V; MutS domain V
      pfam01624
      Location:24 → 132
      MutS_I; MutS domain I
      pfam05188
      Location:149 → 287
      MutS_II; MutS domain II
      pfam05190
      Location:471 → 567
      MutS_IV; MutS family domain IV
      pfam05192
      Location:326 → 414
      MutS_III; MutS domain III

    3. NM_001014482.3 → NP_001014482.2  spellchecker1, isoform E [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001014482.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      P43248, Q86BK6, Q9NKC4, Q9VJT0
      UniProtKB/TrEMBL
      M9ND86, Q0IGW6
      Conserved Domains (6) summary
      smart00533
      Location:324 → 643
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:617 → 852
      MutS_V; MutS domain V
      pfam01624
      Location:24 → 132
      MutS_I; MutS domain I
      pfam05188
      Location:149 → 287
      MutS_II; MutS domain II
      pfam05190
      Location:471 → 567
      MutS_IV; MutS family domain IV
      pfam05192
      Location:326 → 414
      MutS_III; MutS domain III

    4. NM_078841.5 → NP_523565.2  spellchecker1, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_523565.2

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      P43248, Q86BK6, Q9NKC4, Q9VJT0
      UniProtKB/TrEMBL
      M9ND86, Q0IGW6
      Related
      FBpp0080203
      Conserved Domains (6) summary
      smart00533
      Location:324 → 643
      MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
      pfam00488
      Location:617 → 852
      MutS_V; MutS domain V
      pfam01624
      Location:24 → 132
      MutS_I; MutS domain I
      pfam05188
      Location:149 → 287
      MutS_II; MutS domain II
      pfam05190
      Location:471 → 567
      MutS_IV; MutS family domain IV
      pfam05192
      Location:326 → 414
      MutS_III; MutS domain III
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    M9ND86 M9ND86
    P43248.4 P43248

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