Aph1a aph-1 homolog A, gamma secretase subunit [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Aph1aprovided by RGD
Official Full Name: aph-1 homolog A, gamma secretase subunitprovided by RGD
Primary source: RGD:1311546
See related: Ensembl:ENSRNOG00000023816 AllianceGenome:RGD:1311546
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1311546
Summary: Predicted to enable endopeptidase activator activity; enzyme binding activity; and protein-macromolecule adaptor activity. Predicted to be involved in several processes, including Notch receptor processing; amyloid-beta formation; and proteolysis. Predicted to act upstream of or within metanephros development. Located in cytoplasmic vesicle; mitochondrion; and synaptic membrane. Is integral component of presynaptic membrane. Orthologous to human APH1A (aph-1 homolog A, gamma-secretase subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 218.8), Heart (RPKM 177.4) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 2q34

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	2	NC_086020.1 (186123023..186130886)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	2	NC_051337.1 (183437676..183443113)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	2	NC_005101.4 (198006247..198009837)

Chromosome 2 - NC_086020.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Aph-1 associates directly with full-length and C-terminal fragments of gamma-secretase substrates
Title: Aph-1 associates directly with full-length and C-terminal fragments of gamma-secretase substrates.
Nicastrin, presenilin 1, APH-1, and PEN-2 form an active gamma-secretase complex expressed in mitochondria.
Title: Nicastrin, presenilin, APH-1, and PEN-2 form active gamma-secretase complexes in mitochondria.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_7139-7140:992008251:1 (e-PCR)
- UniSTS:231303

MARC_7139-7140:996687542:1 (e-PCR)
- UniSTS:231303

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in Notch receptor processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Notch receptor processing	ISO Inferred from Sequence Orthology more info
involved_in Notch receptor processing	ISO Inferred from Sequence Orthology more info
involved_in Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in amyloid precursor protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid precursor protein metabolic process	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in membrane protein intracellular domain proteolysis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within metanephros development	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
part_of gamma-secretase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-secretase complex	ISO Inferred from Sequence Orthology more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: gamma-secretase subunit APH-1A

Names: APH1A gamma secretase subunit; anterior pharynx defective 1 homolog A; anterior pharynx defective 1a homolog

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.