KEGG   Homo sapiens (human): 51107
Entry
51107             CDS       T01001                                 

Gene name
APH1A, 6530402N02Rik, APH-1, APH-1A, CGI-78
Definition
(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
Drug target
Avagacestat: D09869
Begacestat: D08869
Crenigacestat: D11151
Nirogacestat (DG03016): D10960 D11453
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
Other DBs
NCBI-GeneID: 51107
NCBI-ProteinID: NP_001071096
OMIM: 607629
HGNC: 29509
Ensembl: ENSG00000117362
Vega: OTTHUMG00000012545
Pharos: Q96BI3(Tbio)
UniProt: Q96BI3
LinkDB
Structure
PDB: 

Position
1q21.2
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

KEGG   Homo sapiens (human): 83464
Entry
83464             CDS       T01001                                 

Gene name
APH1B, APH-1B, PRO1328, PSFL, TAAV688
Definition
(RefSeq) aph-1 homolog B, gamma-secretase subunit
  KO
K06172  gamma-secretase subunit APH-1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04330  Notch signaling pathway
hsa05010  Alzheimer disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    83464 (APH1B)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    83464 (APH1B)
SSDB
Motif
Pfam: Aph-1
Other DBs
NCBI-GeneID: 83464
NCBI-ProteinID: NP_112591
OMIM: 607630
HGNC: 24080
Ensembl: ENSG00000138613
Vega: OTTHUMG00000132863
Pharos: Q8WW43(Tbio)
UniProt: Q8WW43
LinkDB
Position
15q22.2
AA seq 257 aa
MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVII
DNKDGPTQKYLLIFGAFVSVYIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVS
GLGFGIMSGVFSFVNTLSDSLGPGTVGIHGDSPQFFLYSAFMTLVIILLHVFWGIVFFDG
CEKKKWGILLIVLLTHLLVSAQTFISSYYGINLASAFIILVLMGTWAFLAAGGSCRSLKL
CLLCQDKNFLLYNQRSR
NT seq 774 nt   +upstreamnt  +downstreamnt
atgactgcggccgtgttcttcggctgcgccttcattgccttcgggcctgcgctcgccctt
tatgtcttcaccatcgccaccgagccgttgcgtatcatcttcctcatcgccggagctttc
ttctggttggtgtctctactgatttcgtcccttgtttggttcatggcaagagtcattatt
gacaacaaagatggaccaacacagaaatatctgctgatctttggagcgtttgtctctgtc
tatatccaagaaatgttccgatttgcatattataaactcttaaaaaaagccagtgaaggt
ttgaagagtataaacccaggtgagacagcaccctctatgcgactgctggcctatgtttct
ggcttgggctttggaatcatgagtggagtattttcctttgtgaataccctatctgactcc
ttggggccaggcacagtgggcattcatggagattctcctcaattcttcctttattcagct
ttcatgacgctggtcattatcttgctgcatgtattctggggcattgtattttttgatggc
tgtgagaagaaaaagtggggcatcctccttatcgttctcctgacccacctgctggtgtca
gcccagaccttcataagttcttattatggaataaacctggcgtcagcatttataatcctg
gtgctcatgggcacctgggcattcttagctgcgggaggcagctgccgaagcctgaaactc
tgcctgctctgccaagacaagaactttcttctttacaaccagcgctccagataa

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