spel1 spellchecker1 [Drosophila melanogaster (fruit fly)] - Gene

Summary

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-dependent activity, acting on DNA and double-strand/single-strand DNA junction binding activity. Predicted to contribute to DNA binding activity and MutLalpha complex binding activity. Involved in interstrand cross-link repair; maintenance of DNA repeat elements; and mismatch repair. Predicted to be part of MutSalpha complex and MutSbeta complex. 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, Apr 2022]
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Genomic context

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_033779.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the mutation spectrum of long microsatellite alleles in spel1(-/-) was slightly upward biased, resulting in a gain of repeats, whereas wild-type flies have a strong downward bias
Title: Mismatch repair-driven mutational bias in D. melanogaster.
results indicate that the use of the Drosophila spel1 mutant (MMR-deficient) could be of relevant importance to identify environmental factors involved in carcinogenesis processes through genomic instability
Title: Germ cells microsatellite instability. The effect of different mutagens in a mismatch repair mutant of Drosophila (spel1).

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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Markers

Dm0045 (e-PCR)
- UniSTS:19321

Homology

Orthologs from OrthoDB

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

NT_033779.5 Reference assembly

Range

14362069..14366840

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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