PSEN1 presenilin 1 [Sus scrofa (pig)] - Gene

Summary

Official Symbol: PSEN1provided by VGNC
Official Full Name: presenilin 1provided by VGNC
Primary source: VGNC:VGNC:91897
See related: Ensembl:ENSSSCG00000002340
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Sus scrofa
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
Expression: Ubiquitous expression in ovary (RPKM 29.4), lung (RPKM 21.0) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 7

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
106	current	Sscrofa11.1 (GCF_000003025.6)	7	NC_010449.5 (96478179..96567884)
105	previous assembly	Sscrofa10.2 (GCF_000003025.5)	7	NC_010449.4 (102265830..102360301)

Chromosome 7 - NC_010449.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Transcriptome data used for gene annotation Transcriptome data used for gene annotation
Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
BioProject: PRJNA311523
Publication: PMID 27646534
Analysis date: Thu Dec 14 17:10:49 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

maternal dietary betaine supplementation during gestation inhibits hepatic cell proliferation in neonatal piglets, at least partly, through epigenetic regulation of hepatic CCND2 and PSEN1 genes via a STAT3-dependent pathway
Title: Maternal gestational betaine supplementation-mediated suppression of hepatic cyclin D2 and presenilin1 gene in newborn piglets is associated with epigenetic regulation of the STAT3-dependent pathway.

Submit: New GeneRIF Correction

General gene information

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Markers

SW252 (e-PCR), detects polymorphism
- UniSTS:251967

D14S1440 (e-PCR)
- UniSTS:153983

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables aspartic endopeptidase activity, intramembrane cleaving	IEA Inferred from Electronic Annotation more info	PubMed
enables beta-catenin binding	IEA Inferred from Electronic Annotation more info	PubMed
enables cadherin binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch receptor processing	IEA Inferred from Electronic Annotation more info	PubMed
involved_in amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in amyloid-beta metabolic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in calcium ion transport	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info	PubMed
involved_in membrane protein ectodomain proteolysis	IEA Inferred from Electronic Annotation more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in protein processing	IEA Inferred from Electronic Annotation more info	PubMed
involved_in smooth endoplasmic reticulum calcium ion homeostasis	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info	PubMed
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in cell cortex	IEA Inferred from Electronic Annotation more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info	PubMed
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info	PubMed
located_in dendritic shaft	IEA Inferred from Electronic Annotation more info	PubMed
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: presenilin-1

NP_001072135.1

EC 3.4.23.-

XP_005666397.1

EC 3.4.23.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.