tefu telomere fusion [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: tefuprovided by FlyBase
Official Full Name: telomere fusionprovided by FlyBase
Primary source: FLYBASE:FBgn0045035
Locus tag: Dmel_CG6535
See related: AllianceGenome:FB:FBgn0045035
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: atm; Atm; ATM; atm/tefu; CG6535; dATM; Dmel\CG6535; tef; Tefu; tefu/atm
Summary: Enables histone kinase activity. Involved in several processes, including chromosome organization; negative regulation of cell death; and negative regulation of mitotic cell cycle phase transition. Located in nucleus. Used to study ataxia telangiectasia. Human ortholog(s) of this gene implicated in several diseases, including colorectal cancer; endometrial cancer; lung carcinoma (multiple); neurodegenerative disease (multiple); and senile cataract. Orthologous to human ATM (ATM serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: all
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Genomic context

Location:: 88E3-88E4; 3-56 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (15232212..15242236, complement)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (11057934..11067958, complement)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

our data indicate that ATR and ATM are both needed for intestinal stem cell maintenance and proliferation; ATR seems to play a bigger role than does ATM.
Title: Requirement of ATR for maintenance of intestinal stem cells in aging Drosophila.
TCTP has a role in regulating ATM activity to control genome stability and organ development in Drosophila melanogaster
Title: TCTP directly regulates ATM activity to control genome stability and organ development in Drosophila melanogaster.
A stringent requirement for the conserved function of Ataxia Telangiectasia Mutated (ATM) in telomere protection during early embryonic development, is identified.
Title: A hypomorphic mutation reveals a stringent requirement for the ATM checkpoint protein in telomere protection during early cell division in Drosophila.
ATM is primarily required for the meiotic DSB repair response, which includes functions in DNA damage repair and negative feedback control over the level of programmed DSBs during meiosis.
Title: Drosophila ATM and ATR have distinct activities in the regulation of meiotic DNA damage and repair.
Molecular genetic characterization of Drosophila ATM conserved functional domains.
Title: Molecular genetic characterization of Drosophila ATM conserved functional domains.
Results suggest that ATM and ATR protect telomere integrity by safeguarding chromatin architecture that favors the loading of telomere-elongating, capping, and silencing proteins.
Title: Drosophila ATM and ATR checkpoint kinases control partially redundant pathways for telomere maintenance.
Drosophila ATM and Mre11 are essential for the G2/M checkpoint induced by low-dose irradiation.
Title: Drosophila ATM and Mre11 are essential for the G2/M checkpoint induced by low-dose irradiation.
ATM checkpoint kinase plays a role in telomere maintenance that is independent of telomerase regulation.
Title: Telomere protection without a telomerase; the role of ATM and Mre11 in Drosophila telomere maintenance.

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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

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic DNA double-strand break processing	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of G1/S transition of mitotic cell cycle	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of TORC1 signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of negative regulation of glial cell apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of innate immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oocyte karyosome formation	IDA Inferred from Direct Assay more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in post-translational protein modification	IDA Inferred from Direct Assay more info	PubMed
involved_in subtelomeric heterochromatin formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: telomere fusion

Names: A-T mutated; CG6535-PB; ataxia telangectasia mutated; ataxia telangiectasia mutated; ataxia telengiesctasia mutated; ataxia-telangiectasia mutated; drosophila ATM; tefu-PB

NP_001036712.1

EC 2.7.11.1

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_033777.3 Reference assembly

Range

15232212..15242236 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001043247.2 → NP_001036712.1 telomere fusion [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001036712.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q0KI71, Q5EAK6, Q6TKQ1, Q8MZG4, Q9VFB1

Conserved Domains (3) summary

cd05171
Location:2416 → 2696

PIKKc_ATM; Catalytic domain of Ataxia Telangiectasia Mutated

pfam02259
Location:1829 → 2170

FAT; FAT domain

pfam02260
Location:2739 → 2767

FATC; FATC domain