KEGG   Homo sapiens (human): 51107
Entry
51107             CDS       T01001                                 
Symbol
APH1A, 6530402N02Rik, APH-1, APH-1A, CGI-78
Name
(RefSeq) aph-1 homolog A, gamma-secretase subunit
  KO
K06172  gamma-secretase subunit APH-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05010  Alzheimer disease
Network
nt06511  NOTCH signaling
  Element
N01478  Notch proteolytic activation
Drug target
Avagacestat: D09869
Begacestat: D08869
Crenigacestat: D11151
Nirogacestat (DG03016): D10960 D11453<US>
Osugacestat: D12235
Semagacestat: D09377
Tarenflurbil: D09010
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    51107 (APH1A)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    51107 (APH1A)
SSDB
Motif
Pfam: Aph-1 Peptidase_M3_N BRI3BP
Other DBs
NCBI-GeneID: 51107
NCBI-ProteinID: NP_001071096
OMIM: 607629
HGNC: 29509
Ensembl: ENSG00000117362
UniProt: Q96BI3
Structure
Position
1:complement(150265404..150269016)
AA seq 265 aa
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLASVVWFILVHVT
DRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEGLASLSEDGRSPISIRQMAYV
SGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFLTAAIILLHTFWGVVFFD
ACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQ
RSLLCRRQEDSRVMVYSALRIPPED
NT seq 798 nt   +upstreamnt  +downstreamnt
atgggggctgcggtgtttttcggctgcactttcgtcgcgttcggcccggccttcgcgctt
ttcttgatcactgtggctggggacccgcttcgcgttatcatcctggtcgcaggggcattt
ttctggctggtctccctgctcctggcctctgtggtctggttcatcttggtccatgtgacc
gaccggtcagatgcccggctccagtacggcctcctgatttttggtgctgctgtctctgtc
cttctacaggaggtgttccgctttgcctactacaagctgcttaagaaggcagatgagggg
ttagcatcgctgagtgaggacggaagatcacccatctccatccgccagatggcctatgtt
tctggtctctccttcggtatcatcagtggtgtcttctctgttatcaatattttggctgat
gcacttgggccaggtgtggttgggatccatggagactcaccctattacttcctgacttca
gcctttctgacagcagccattatcctgctccataccttttggggagttgtgttctttgat
gcctgtgagaggagacggtactgggctttgggcctggtggttgggagtcacctactgaca
tcgggactgacattcctgaacccctggtatgaggccagcctgctgcccatctatgcagtc
actgtttccatggggctctgggccttcatcacagctggagggtccctccgaagtattcag
cgcagcctcttgtgccgacggcaggaggacagtcgggtgatggtgtattctgccctgcgc
atcccacccgaggactga

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