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Gene Gene information from NCBI Gene database.
Entrez ID 51107
Gene name Aph-1A gamma-secretase subunit
Gene symbol APH1A
Synonyms (NCBI Gene)
6530402N02RikAPH-1APH-1ACGI-78
Chromosome 1
Chromosome location 1q21.2
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 def
miRNA miRNA information provided by mirtarbase database.
496 Show/Hide all (496)
miRTarBase ID miRNA Experiments Reference
MIRT021538 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT481767 hsa-miR-491-5p PAR-CLIP 23592263
MIRT383209 hsa-miR-519a-3p PAR-CLIP 23592263
MIRT383208 hsa-miR-519b-3p PAR-CLIP 23592263
MIRT383207 hsa-miR-519c-3p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Activation 21443683
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
60 Show/Hide all (60)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 15274632
GO:0001656 Process Metanephros development IEA
GO:0005515 Function Protein binding IPI 12297508, 18201567, 19376115, 25394380, 26280335, 30559186, 32296183, 32814053
GO:0005769 Component Early endosome IEA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607629 29509 ENSG00000117362
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BI3
Protein name Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin-stabilization factor)
Protein function Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522
PDB 5A63 , 5FN2 , 5FN3 , 5FN4 , 5FN5 , 6IDF , 6IYC , 6LQG , 6LR4 , 7C9I , 7D8X , 7Y5T , 7Y5X , 7Y5Z , 8IM7 , 8K8E , 8KCO , 8KCP , 8KCS , 8KCT , 8KCU , 8X52 , 8X53 , 8X54
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06105 Aph-1 2 → 239 Aph-1 protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, skeletal muscle, heart and brain. Isoform 1 and isoform 2 are nearly expressed at the same level. {ECO:0000269|PubMed:12110170}.
Sequence
Sequence length 265
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Notch signaling pathway Nuclear signaling by ERBB4
Alzheimer disease Regulated proteolysis of p75NTR
  NRIF signals cell death from the nucleus
  Constitutive Signaling by NOTCH1 PEST Domain Mutants
  Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  EPH-ephrin mediated repulsion of cells
  NOTCH3 Activation and Transmission of Signal to the Nucleus
  Noncanonical activation of NOTCH3
  Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
APH1A-related disorder Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (28)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 30577530
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 30577530
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 9605951
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 21443683 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 26293690
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26334913
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 30030189
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 37717070 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism BEFREE 28656103
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy BEFREE 31306277
★★★★★
★☆☆☆☆
Found in Text Mining only