sel-12 Presenilin sel-12 [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: sel-12
Official Full Name: Presenilin sel-12
Primary source: WormBase:WBGene00004769
Locus tag: CELE_F35H12.3
See related: AllianceGenome:WB:WBGene00004769
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Predicted to enable endopeptidase activity. Involved in several processes, including apical protein localization; egg-laying behavior; and regulation of signal transduction. Located in perinuclear region of cytoplasm. Used to study Alzheimer's disease. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); breast cancer; dilated cardiomyopathy (multiple); frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1) and PSEN2 (presenilin 2). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See sel-12 in Genome Data Viewer

Location:: chromosome: X

Exon count:: 7

Sequence:: Chromosome: X; NC_003284.9 (915867..918290)

Chromosome X - NC_003284.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003284.9

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
Title: A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.
Mutations in the C. elegans gene encoding a PSEN homolog, sel-12 result in mitochondrial metabolic defects that promote neurodegeneration as a result of oxidative stress.
Title: Presenilin mutations deregulate mitochondrial Ca(2+) homeostasis and metabolic activity causing neurodegeneration in Caenorhabditis elegans.
mutations in sel-12 result in defects in calcium homeostasis, leading to mitochondrial dysfunction
Title: A γ-Secretase Independent Role for Presenilin in Calcium Homeostasis Impacts Mitochondrial Function and Morphology in Caenorhabditis elegans.
spr-2 mutations do not suppress sel-12 by affecting nonsense mediated decay, and increase the levels of sel-12 transcripts with premature translation termination codons.
Title: Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of sel-12 mutants with amber stop mutations in Caenorhabditis elegans.
Data report the cloning and characterization of spr-3 and spr-4, which encode large basic zinc-finger proteins which act as transcriptional repressors for sel-12 [spr-3 and spr-4].
Title: Two suppressors of sel-12 encode C2H2 zinc-finger proteins that regulate presenilin transcription in Caenorhabditis elegans.
A genetic null allele mutant, sel-12(ar171), showed resistance to oxidative stress and prevented mitochondrial dysfunction-induced apoptosis.
Title: The role of the presenilin-1 homologue gene sel-12 of Caenorhabditis elegans in apoptotic activities.

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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

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info
enables endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in Notch signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in amyloid-beta formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in apical protein localization	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of temperature stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in egg-laying behavior	IEA Inferred from Electronic Annotation more info
involved_in egg-laying behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info
involved_in regulation of anatomical structure morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of basement membrane organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transforming growth factor beta receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed