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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Mmu-063176
Ensembl Protein ID ENSMUSP00000048363.5
UniProt Accession P49769; Q91WK6; Q9JLP9; PSN1_MOUSE
Genbank Protein ID AAC42094.1; AAB72049.1; AAF73153.1; AAH14744.1; AAH30409.1; AAH71233.1
Protein Name Presenilin-1; Protein S182; Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12
Genbank Nucleotide ID L42177; AF007560; AF149111; BC014744; BC030409; BC071233
Gene Name Psen1; Ad3h; Psnl1
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSMUSG00000019969.13 ENSMUST00000041806.11 ENSMUSP00000048363.5
Annotation
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressGXD
DNA & RNA Element
AREsitemiRTarBasemicroRNATRANSFAC
RepTarmiRNAMapRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
Mentha
Drug and target
GRAC
Post-translational Modifications (PTMs)
dbPAFPhosphositePlusdbPTMPhospho.ELM
UniProtPHOSIDA
Protein Expression/Proteomics
GPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
UBD/Alpha-Helix/CUE 6.50e-08 33.6 272 306
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/Alpha-Helix/CUE

   S: 2    letaleqLkeiFPnldysviqvvLeantgsleaav 36
    +eta+e+++++FP+l+ys+++v+L++++ +++a+
   Q: 272 VETAQERNETLFPALIYSSTMVWLVNMAEGDPEAQ 306
    89**************************9988887 PP
   

Organism Mus musculus
Functional Description
(View)

Functional Description



     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 (beta-amyloid precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity (By similarity). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:10421573, PubMed:11517342). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11226248). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:11226248). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (PubMed:9160754, PubMed:10421573, PubMed:12834865).
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 (beta-amyloid precursor protein). Requires the presence of the other members of the gamma-secretase complex for protease activity (By similarity). Plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (PubMed:10421573, PubMed:11517342). Stimulates cell-cell adhesion via its interaction with CDH1; this stabilizes the complexes between CDH1 (E-cadherin) and its interaction partners CTNNB1 (beta-catenin), CTNND1 and JUP (gamma-catenin) (PubMed:11226248). Under conditions of apoptosis or calcium influx, cleaves CDH1 (PubMed:11953314). This promotes the disassembly of the complexes between CDH1 and CTNND1, JUP and CTNNB1, increases the pool of cytoplasmic CTNNB1, and thereby negatively regulates Wnt signaling (PubMed:11226248). Required for normal embryonic brain and skeleton development, and for normal angiogenesis (PubMed:9160754, PubMed:10421573, PubMed:12834865).
Protein Sequence
(Fasta)
MTEIPAPLSY FQNAQMSEDS HSSSAIRSQN DSQERQQQHD RQRLDNPEPI SNGRPQSNSR 60
QVVEQDEEED EELTLKYGAK HVIMLFVPVT LCMVVVVATI KSVSFYTRKD GQLIYTPFTE 120
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Protein Fasta Sequence



>IUUC-Mmu-063176|UBD,CUE|Mus musculus
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Nucleotide Sequence
(Fasta)
GTGGGCCGCG AGTATTCGTC GGAAACAAAA CAGCGGCAGC TGAGGCGGAA ACCTAGGCTG 60
CGAGCCGGCC GCCCGGGCGC GGAGAGAGAA GGTGCGTGCC CAGGGTGTGC GGGGCGGAGG 120
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Nucleotide Fasta Sequence



>IUUC-Mmu-063176|UBD,CUE|Mus musculus
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Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0053--Apoptosis
KW-0130--Cell adhesion
KW-1003--Cell membrane
KW-0181--Complete proteome
KW-0968--Cytoplasmic vesicle
KW-0256--Endoplasmic reticulum
KW-0333--Golgi apparatus
KW-0378--Hydrolase
KW-0472--Membrane
KW-0914--Notch signaling pathway
KW-0597--Phosphoprotein
KW-0645--Protease
KW-1185--Reference proteome
KW-0812--Transmembrane
KW-1133--Transmembrane helix

Interpro

IPR002031--Pept_A22A_PS1
IPR001108--Peptidase_A22A
IPR006639--Preselin/SPP

Pfam

PF01080--Presenilin

PRINTS

PR01072--PRESENILIN
PR01073--PRESENILIN1

SMART

SM00730--PSN

Gene Ontology

GO:0016235--C:aggresome
GO:0030424--C:axon
GO:0005938--C:cell cortex
GO:0030054--C:cell junction
GO:0009986--C:cell surface
GO:0005813--C:centrosome
GO:0035253--C:ciliary rootlet
GO:0005737--C:cytoplasm
GO:0031410--C:cytoplasmic vesicle
GO:0030425--C:dendrite
GO:0043198--C:dendritic shaft
GO:0005783--C:endoplasmic reticulum
GO:0005789--C:endoplasmic reticulum membrane
GO:0070765--C:gamma-secretase complex
GO:0005794--C:Golgi apparatus
GO:0000139--C:Golgi membrane
GO:0030426--C:growth cone
GO:0016021--C:integral component of membrane
GO:0005887--C:integral component of plasma membrane
GO:0005622--C:intracellular
GO:0000776--C:kinetochore
GO:0005765--C:lysosomal membrane
GO:0016020--C:membrane
GO:0045121--C:membrane raft
GO:0043227--C:membrane-bounded organelle
GO:0005743--C:mitochondrial inner membrane
GO:0005739--C:mitochondrion
GO:0031594--C:neuromuscular junction
GO:0043025--C:neuronal cell body
GO:0031965--C:nuclear membrane
GO:0005640--C:nuclear outer membrane
GO:0005634--C:nucleus
GO:0048471--C:perinuclear region of cytoplasm
GO:0005886--C:plasma membrane
GO:0098793--C:presynapse
GO:0005791--C:rough endoplasmic reticulum
GO:0005790--C:smooth endoplasmic reticulum
GO:0030018--C:Z disc
GO:0042500--F:aspartic endopeptidase activity, intramembrane cleaving
GO:0008013--F:beta-catenin binding
GO:0045296--F:cadherin binding
GO:0005262--F:calcium channel activity
GO:0004175--F:endopeptidase activity
GO:0030165--F:PDZ domain binding
GO:0000186--P:activation of MAPKK activity
GO:0042987--P:amyloid precursor protein catabolic process
GO:0042982--P:amyloid precursor protein metabolic process
GO:0000045--P:autophagosome assembly
GO:0006914--P:autophagy
GO:0034205--P:beta-amyloid formation
GO:0050435--P:beta-amyloid metabolic process
GO:0001568--P:blood vessel development
GO:0007420--P:brain development
GO:0048854--P:brain morphogenesis
GO:0021870--P:Cajal-Retzius cell differentiation
GO:0006816--P:calcium ion transport
GO:0060070--P:canonical Wnt signaling pathway
GO:0001708--P:cell fate specification
GO:0006874--P:cellular calcium ion homeostasis
GO:0044267--P:cellular protein metabolic process
GO:0006974--P:cellular response to DNA damage stimulus
GO:0021795--P:cerebral cortex cell migration
GO:0021987--P:cerebral cortex development
GO:0015871--P:choline transport
GO:0021904--P:dorsal/ventral neural tube patterning
GO:0030326--P:embryonic limb morphogenesis
GO:0032469--P:endoplasmic reticulum calcium ion homeostasis
GO:0050673--P:epithelial cell proliferation
GO:0030900--P:forebrain development
GO:0007507--P:heart development
GO:0001947--P:heart looping
GO:0002244--P:hematopoietic progenitor cell differentiation
GO:0035556--P:intracellular signal transduction
GO:0015813--P:L-glutamate transport
GO:0007611--P:learning or memory
GO:0040011--P:locomotion
GO:0006509--P:membrane protein ectodomain proteolysis
GO:0007613--P:memory
GO:0006839--P:mitochondrial transport
GO:0043011--P:myeloid dendritic cell differentiation
GO:0002573--P:myeloid leukocyte differentiation
GO:0043066--P:negative regulation of apoptotic process
GO:2001234--P:negative regulation of apoptotic signaling pathway
GO:0050771--P:negative regulation of axonogenesis
GO:0007175--P:negative regulation of epidermal growth factor-activated receptor activity
GO:0043524--P:negative regulation of neuron apoptotic process
GO:0006469--P:negative regulation of protein kinase activity
GO:0001933--P:negative regulation of protein phosphorylation
GO:2000059--P:negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:0000122--P:negative regulation of transcription from RNA polymerase II promoter
GO:0051444--P:negative regulation of ubiquitin-protein transferase activity
GO:0003407--P:neural retina development
GO:0022008--P:neurogenesis
GO:0051402--P:neuron apoptotic process
GO:0048666--P:neuron development
GO:0030182--P:neuron differentiation
GO:0001764--P:neuron migration
GO:0007220--P:Notch receptor processing
GO:0007219--P:Notch signaling pathway
GO:0043065--P:positive regulation of apoptotic process
GO:0043085--P:positive regulation of catalytic activity
GO:0050820--P:positive regulation of coagulation
GO:0060999--P:positive regulation of dendritic spine development
GO:0043406--P:positive regulation of MAP kinase activity
GO:0032436--P:positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0045860--P:positive regulation of protein kinase activity
GO:0001934--P:positive regulation of protein phosphorylation
GO:0001921--P:positive regulation of receptor recycling
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0009791--P:post-embryonic development
GO:0006486--P:protein glycosylation
GO:0051604--P:protein maturation
GO:0016485--P:protein processing
GO:0015031--P:protein transport
GO:0060828--P:regulation of canonical Wnt signaling pathway
GO:0007176--P:regulation of epidermal growth factor-activated receptor activity
GO:0042325--P:regulation of phosphorylation
GO:0043393--P:regulation of protein binding
GO:0060075--P:regulation of resting membrane potential
GO:0048167--P:regulation of synaptic plasticity
GO:0051966--P:regulation of synaptic transmission, glutamatergic
GO:0006979--P:response to oxidative stress
GO:0035282--P:segmentation
GO:0016337--P:single organismal cell-cell adhesion
GO:0048705--P:skeletal system morphogenesis
GO:0043589--P:skin morphogenesis
GO:0051563--P:smooth endoplasmic reticulum calcium ion homeostasis
GO:0001756--P:somitogenesis
GO:0016080--P:synaptic vesicle targeting
GO:0002286--P:T cell activation involved in immune response
GO:0050852--P:T cell receptor signaling pathway
GO:0048538--P:thymus development

KEGG mmu:19164
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Ata-000686 Aegilops tauschii 34.44 7.00e-23 102.00
IUUC-Aml-001648 Ailuropoda melanoleuca 90.68 3.00e-160 557.00
IUUC-Atr-003039 Amborella trichopoda 32.51 1.00e-37 150.00
IUUC-Apl-003727 Anas platyrhynchos 80.34 1.00e-175 609.00
IUUC-Aca-004582 Anolis carolinensis 79.36 0.00e+00 629.00
IUUC-Aly-005455 Arabidopsis lyrata 31.63 9.00e-18 84.70
IUUC-Ath-006730 Arabidopsis thaliana 33.02 2.00e-18 87.00
IUUC-Ame-011500 Astyanax mexicanus 78.89 1.00e-147 516.00
IUUC-Bta-013026 Bos taurus 86.61 0.00e+00 686.00
IUUC-Bdi-014196 Brachypodium distachyon 33.80 5.00e-30 125.00
IUUC-Bol-015841 Brassica oleracea 34.60 5.00e-31 129.00
IUUC-Bra-017580 Brassica rapa 35.05 8.00e-30 124.00
IUUC-Cel-018553 Caenorhabditis elegans 52.06 4.00e-95 341.00
IUUC-Cja-019994 Callithrix jacchus 94.81 0.00e+00 680.00
IUUC-Cfa-020074 Canis familiaris 90.58 0.00e+00 714.00
IUUC-Cpo-022237 Cavia porcellus 93.17 0.00e+00 705.00
IUUC-Csa-023537 Chlorocebus sabaeus 92.72 0.00e+00 755.00
IUUC-Cho-024735 Choloepus hoffmanni 79.74 0.00e+00 651.00
IUUC-Cin-025780 Ciona intestinalis 62.91 5.00e-124 437.00
IUUC-Csv-025967 Ciona savignyi 63.12 1.00e-119 422.00
IUUC-Dre-028689 Danio rerio 78.14 5.00e-144 504.00
IUUC-Dno-029758 Dasypus novemcinctus 89.13 0.00e+00 706.00
IUUC-Dor-030609 Dipodomys ordii 73.23 1.00e-174 605.00
IUUC-Dme-031929 Drosophila melanogaster 54.83 2.00e-108 386.00
IUUC-Ete-032487 Echinops telfairi 80.95 1.00e-80 293.00
IUUC-Eeu-035134 Erinaceus europaeus 89.90 5.00e-141 493.00
IUUC-Fca-036243 Felis catus 90.60 0.00e+00 707.00
IUUC-Fal-036600 Ficedula albicollis 80.64 3.00e-177 614.00
IUUC-Gmo-038550 Gadus morhua 65.40 3.00e-113 401.00
IUUC-Gga-040993 Gallus gallus 81.36 7.00e-179 620.00
IUUC-Gac-042342 Gasterosteus aculeatus 73.50 1.00e-128 452.00
IUUC-Ggo-044859 Gorilla gorilla 91.93 1.00e-164 572.00
IUUC-Hsa-046822 Homo sapiens 92.72 0.00e+00 756.00
IUUC-Hvu-047141 Hordeum vulgare 36.60 2.00e-25 110.00
IUUC-Itr-048420 Ictidomys tridecemlineatus 94.72 9.00e-158 549.00
IUUC-Lch-049946 Latimeria chalumnae 69.18 9.00e-143 499.00
IUUC-Loc-052469 Lepisosteus oculatus 63.41 2.00e-136 479.00
IUUC-Laf-053979 Loxodonta africana 88.06 7.00e-179 619.00
IUUC-Mcc-055682 Macaca mulatta 92.72 0.00e+00 756.00
IUUC-Meu-056004 Macropus eugenii 74.64 2.00e-150 525.00
IUUC-Mtr-058392 Medicago truncatula 34.25 6.00e-33 135.00
IUUC-Mga-059466 Meleagris gallopavo 81.28 3.00e-178 618.00
IUUC-Mmr-061538 Microcebus murinus 75.16 8.00e-159 553.00
IUUC-Mdo-062122 Monodelphis domestica 85.35 0.00e+00 673.00
IUUC-Mpu-065927 Mustela putorius furo 89.51 0.00e+00 705.00
IUUC-Mlu-067079 Myotis lucifugus 89.32 0.00e+00 731.00
IUUC-Nle-070180 Nomascus leucogenys 92.72 0.00e+00 756.00
IUUC-Opr-070847 Ochotona princeps 86.33 0.00e+00 658.00
IUUC-Ont-071846 Oreochromis niloticus 75.25 2.00e-144 505.00
IUUC-Oan-072783 Ornithorhynchus anatinus 81.90 3.00e-131 461.00
IUUC-Ocu-074527 Oryctolagus cuniculus 91.03 0.00e+00 733.00
IUUC-Olo-080484 Oryza longistaminata 61.73 1.00e-16 80.50
IUUC-Oar-090348 Ovis aries 88.68 0.00e+00 718.00
IUUC-Ptr-091060 Pan troglodytes 92.72 0.00e+00 756.00
IUUC-Pan-091855 Papio anubis 84.58 0.00e+00 658.00
IUUC-Psi-093505 Pelodiscus sinensis 81.28 0.00e+00 626.00
IUUC-Pfo-097396 Poecilia formosa 74.51 8.00e-150 523.00
IUUC-Pab-098591 Pongo abelii 91.86 0.00e+00 741.00
IUUC-Pop-099661 Populus trichocarpa 33.33 7.00e-32 131.00
IUUC-Pca-101029 Procavia capensis 84.65 0.00e+00 652.00
IUUC-Ppe-101495 Prunus persica 32.97 4.00e-38 152.00
IUUC-Pva-102244 Pteropus vampyrus 84.19 0.00e+00 661.00
IUUC-Rno-105861 Rattus norvegicus 95.95 0.00e+00 741.00
IUUC-Sha-107045 Sarcophilus harrisii 85.74 0.00e+00 671.00
IUUC-Smo-109325 Selaginella moellendorffii 36.23 3.00e-37 149.00
IUUC-Sit-110624 Setaria italica 32.40 6.00e-26 112.00
IUUC-Stu-112433 Solanum tuberosum 34.83 9.00e-33 134.00
IUUC-Sar-113169 Sorex araneus 86.16 2.00e-140 492.00
IUUC-Ssc-115766 Sus scrofa 88.89 0.00e+00 693.00
IUUC-Tgu-116469 Taeniopygia guttata 86.43 2.00e-138 485.00
IUUC-Tru-117732 Takifugu rubripes 77.22 1.00e-144 506.00
IUUC-Tsy-119624 Tarsius syrichta 81.80 0.00e+00 649.00
IUUC-Tni-119852 Tetraodon nigroviridis 70.63 2.00e-134 472.00
IUUC-Tca-121865 Theobroma cacao 33.67 8.00e-38 151.00
IUUC-Tae-125925 Triticum aestivum 35.53 9.00e-26 111.00
IUUC-Tur-126237 Triticum urartu 35.31 3.00e-23 102.00
IUUC-Tbe-128148 Tupaia belangeri 83.78 2.00e-168 584.00
IUUC-Ttr-128793 Tursiops truncatus 88.25 0.00e+00 680.00
IUUC-Vpa-130625 Vicugna pacos 72.59 6.00e-154 537.00
IUUC-Xtr-131790 Xenopus tropicalis 76.26 1.00e-155 543.00
IUUC-Xma-133377 Xiphophorus maculatus 73.09 6.00e-147 513.00
Created Date 25-Jun-2017

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