Aph1b aph-1 homolog B, gamma secretase subunit [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Aph1bprovided by RGD
Full Name: aph-1 homolog B, gamma secretase subunitprovided by RGD
Primary source: RGD:1562468
See related: EnsemblRapid:ENSRNOG00000027295 AllianceGenome:RGD:1562468
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: APH-1B'
Summary: Predicted to enable endopeptidase activator activity and protein-macromolecule adaptor activity. Involved in locomotory behavior. Predicted to be located in membrane and transport vesicle. Predicted to be part of gamma-secretase complex. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in coronary artery disease. Orthologous to human APH1B (aph-1 homolog B, gamma-secretase subunit). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Lung (RPKM 185.8), Kidney (RPKM 160.6) and 9 other tissues See more
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Genomic context

Location:: 8q24

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (76310380..76334146, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (67429198..67454735, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (72508008..72598921, complement)

Chromosome 8 - NC_086026.1 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 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?

Notch ligand binding leads to gamma-secretase-mediated proteolytic cleavage of the Notch receptor releasing the Notch intracellular domain, resulting in its subsequent translocation into the nucleus and gene expression regulation
Title: Determination of relative Notch1 and gamma-secretase-related gene expression in puromycin-treated microdissected rat kidneys.
Pharmacogenetically bred apomorphine-susceptible Wistar rats have only one or two copies of the Aph-1b gene; in these rats, gamma-secretase activity is altered, leading to a complex phenotype.
Title: Reduced Aph-1b expression causes tissue- and substrate-specific changes in gamma-secretase activity in rats with a complex phenotype.
Aph1b and KCnIP1 are significantly differentially expressed in a number of brain tissues of a schizophrenia model; KCnIP1 is an attractive novel candidate gene that may play a role in the complex phenotype
Title: Gene expression profiling in brain regions of a rat model displaying schizophrenia-related features.
low levels of Aph-1b mRNA and gamma-secretase activity observed in the I/I and II/II rats during the entire developmental period may well underlie their complex phenotype
Title: Ontogenic reduction of Aph-1b mRNA and gamma-secretase activity in rats with a complex neurodevelopmental phenotype.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables endopeptidase activator activity	ISO Inferred from Sequence Orthology more info
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
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
acts_upstream_of_or_within amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in amyloid-beta formation	ISO Inferred from Sequence Orthology more info
involved_in locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endopeptidase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within prepulse inhibition	ISO Inferred from Sequence Orthology more info
involved_in protein processing	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein processing	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within short-term memory	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synaptic transmission, dopaminergic	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor 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 synapse	IEA Inferred from Electronic Annotation more info
located_in transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gamma-secretase subunit APH-1B

Names: APH1B gamma secretase subunit; anterior pharynx defective 1 homolog B; anterior pharynx defective 1b homolog; gamma-secretase subunit APH-1B-like

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.

mRNA and Protein(s)

NM_001047090.2 → NP_001040555.1 gamma-secretase subunit APH-1B

See identical proteins and their annotated locations for NP_001040555.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/TrEMBL

D3ZEJ1, D4A4J6, Q0PY50, Q4G070

Related

ENSRNOP00000024176.5, ENSRNOT00000024176.7

Conserved Domains (1) summary

pfam06105
Location:2 → 232

Aph-1; Aph-1 protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

76310380..76334146 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039081129.2 → XP_038937057.1 gamma-secretase subunit APH-1B isoform X1

Conserved Domains (1) summary

pfam06105
Location:5 → 159

Aph-1; Aph-1 protein