InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: APH1A

Summary

InnateDB Gene

IDBG-102071.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APH1A

Gene Name

anterior pharynx defective 1 homolog A (C. elegans)

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000117362

Encoded Proteins

IDBP-102073

anterior pharynx defective 1 homolog A (C. elegans)

IDBP-102075

anterior pharynx defective 1 homolog A (C. elegans)

IDBP-102079

anterior pharynx defective 1 homolog A (C. elegans)

IDBP-388326

anterior pharynx defective 1 homolog A (C. elegans)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:150265399-150269580

Strand

Reverse strand

Band

q21.2

Transcripts

ENST00000369109	ENSP00000358105
ENST00000360244	ENSP00000353380
ENST00000236017	ENSP00000236017
ENST00000414276	ENSP00000397473
ENST00000461320
ENST00000486308
ENST00000486720
ENST00000476538
ENST00000493092

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 29 experimentally validated interaction(s) in this database.
They are also associated with 14 interaction(s) predicted by orthology.

Experimentally validated
Total	29 [view]
Protein-Protein	28 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	14 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004175	endopeptidase activity
GO:0005515	protein binding

Biological Process

GO:0001656	metanephros development
GO:0006509	membrane protein ectodomain proteolysis
GO:0007219	Notch signaling pathway
GO:0007220	Notch receptor processing
GO:0016485	protein processing
GO:0031293	membrane protein intracellular domain proteolysis
GO:0042987	amyloid precursor protein catabolic process
GO:0043065	positive regulation of apoptotic process
GO:0043085	positive regulation of catalytic activity
GO:0048011	neurotrophin TRK receptor signaling pathway
GO:0097190	apoptotic signaling pathway

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032580	Golgi cisterna membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000015750

View Gene Order

ENSBTAG00000021482

Not yet available

Pathways

NETPATH

NetPath_3

Notch pathway

REACTOME

REACT_13443

Regulated proteolysis of p75NTR pathway

REACT_13643

NRIF signals cell death from the nucleus pathway

REACT_116022

Nuclear signaling by ERBB4 pathway

REACT_115596

Signaling by ERBB4 pathway

REACT_118614

Activated NOTCH1 Transmits Signal to the Nucleus pathway

REACT_118636

Signaling by NOTCH4 pathway

REACT_118862

Signaling by NOTCH3 pathway

REACT_160205

NOTCH2 Activation and Transmission of Signal to the Nucleus pathway

REACT_160243

Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway

REACT_160254

Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway

REACT_111045

Developmental Biology pathway

REACT_11061

Signalling by NGF pathway

REACT_160082

Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway

REACT_160214

Signaling by NOTCH1 in Cancer pathway

REACT_18266

Axon guidance pathway

REACT_13776

p75 NTR receptor-mediated signalling pathway

REACT_160099

FBXW7 Mutants and NOTCH1 in Cancer pathway

REACT_111102

Signal Transduction pathway

REACT_118721

Signaling by NOTCH2 pathway

REACT_160301

Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway

REACT_160248

Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway

REACT_299

Signaling by NOTCH pathway

REACT_13720

Cell death signalling via NRAGE, NRIF and NADE pathway

REACT_228189

EPH-ephrin mediated repulsion of cells pathway

REACT_118859

Signaling by NOTCH1 pathway

REACT_160133

Signaling by NOTCH1 HD Domain Mutants in Cancer pathway

REACT_228170

EPH-Ephrin signaling pathway

REACT_116125

Disease pathway

KEGG

hsa04330

Notch signaling pathway pathway

hsa05010

Alzheimer's disease pathway

INOH

PID NCI

ps1pathway

Presenilin action in Notch and Wnt signaling

p75ntrpathway

p75(NTR)-mediated signaling

syndecan_3_pathway

Syndecan-3-mediated signaling events

notch_pathway

Notch signaling pathway

Cross-References

SwissProt

Q96BI3

TrEMBL

UniProt Splice Variant

Entrez Gene

51107

UniGene

Hs.108408 Hs.735911

RefSeq

NM_001243772 NM_001077628 NM_001243771 NM_016022

HUGO

HGNC:29509

OMIM

607629

CCDS

CCDS58025 CCDS41390 CCDS41391

HPRD

IMGT

EMBL

AF151835 AF508787 AK027879 AK075295 AK298832 AL138795 AY113698 AY113699 AY358951 BC001230 BC008732 BC009501 BC015568 BC017699 BC020590 CH471121

GenPept

AAD34072 AAH01230 AAH08732 AAH09501 AAH15568 AAH17699 AAH20590 AAM61955 AAM61956 AAN63816 AAQ89310 BAC11529 BAG51389 BAG60962 CAI22811 CAI22812 EAW53565 EAW53566 EAW53567

RNA Seq Atlas

51107