APH1B - aph-1 homolog B, gamma-secretase subunit Gene

Also Known as PSFL; APH-1B; PRO1328; TAAV688; aph-1beta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83464

About APH1B

Cytogenetic location: 15q22.2 Genomic coordinates (GRCh38): 15:63,277,605-63,309,126 (from NCBI)

This gene has 10 transcripts (splice variants), 192 orthologues and 1 paralogue. Broad expression in testis (RPKM 23.1), thyroid (RPKM 13.1) and 22 other tissues.

Summary

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as Notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]

APH1B Products (2)

mRNA	Protein	Name
NM_001145646.2	NP_001139118.1	gamma-secretase subunit APH-1B isoform 2
NM_031301.4	NP_112591.2	gamma-secretase subunit APH-1B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables endopeptidase activator activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
enables endopeptidase activator activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12297508	GOA
enables protein-macromolecule adaptor activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Notch receptor processing	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid precursor protein catabolic process	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in amyloid-beta formation	IDA IDA: Inferred from direct assay	27608597	GOA
involved in amyloid-beta formation	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in positive regulation of endopeptidase activity	IGI IGI: Inferred from genetic interaction	12763021	GOA
involved in positive regulation of endopeptidase activity	IMP IMP: Inferred from mutant phenotype	12297508	GOA
acts upstream of or within protein processing	IDA IDA: Inferred from direct assay	12297508	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	27608597	GOA
involved in protein processing	IGI IGI: Inferred from genetic interaction	12763021	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of gamma-secretase complex	IDA IDA: Inferred from direct assay	12297508	GOA
part of gamma-secretase complex	IGI IGI: Inferred from genetic interaction	12763021	GOA
located in membrane	IDA IDA: Inferred from direct assay	12297508	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APH1B Protein Structure

Aph-1

0
100
200
257 a.a.

Protein Preferred Names	Protein Names
gamma-secretase subunit APH-1B	APH1B gamma secretase subunit

APH1B Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	APH1B	Q8WW43	BDNF	Homo sapiens	P23560-2	Validated Y2H	32814053
Intra	APH1B	Q8WW43	BDNF	Homo sapiens	P23560-2	Y2H Array	32814053
Intra	APH1B	Q8WW43	BDNF	Homo sapiens	P23560-2	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-156012	PSEN1-IN-2	Inhibitor	/	Unkown
HY-156011	PSEN1-IN-1	Inhibitor	/	Unkown
HY-RS00818	APH1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22392	Aph1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28916	Aph1b Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	APH1B	VGNC	VGNC:58291
Bos taurus	APH1B	VGNC	VGNC:26014
Rattus norvegicus	APH1B	RGD	RGD:1562468
Macaca mulatta	APH1B	VGNC	VGNC:69891
Mus musculus	APH1B	MGD	MGI:3522097
Felis catus	APH1B	VGNC	VGNC:104358
Others	APH1B	NCBI