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Basic Information Integrated Annotations

Tag Content
UUCD2 ID IUUC-Hsa-046455
Ensembl Protein ID ENSP00000355746.1
UniProt Accession P49810; A8K8D4; B1AP21; Q96P32; PSN2_HUMAN
Genbank Protein ID AAB59557.1; AAC42012.1; AAC50290.1; AAB50054.1; AAP35630.1; BAF84988.1; CAH73110.1; EAW69798.1; EAW69800.1; AAH06365.1; AAL16812.1
Protein Name Presenilin-2; AD3LP; AD5; E5-1; STM-2; Presenilin-2 NTF subunit; Presenilin-2 CTF subunit
Genbank Nucleotide ID L43964; L44577; U34349; U50871; BT006984; AK292299; AL391628; CH471098; CH471098; BC006365; AF416718
Gene Name PSEN2; AD4; PS2; PSNL2; STM2
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000143801.16 ENST00000422240.6 ENSP00000403737.2
ENSG00000143801.16 ENST00000366782.5 ENSP00000355746.1
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICHPM
DNA & RNA Element
UTRdbcircBasecircRNADbCircNet
microRNATRANSFACRepTarSomamiR
miRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Disease-associated Information
ClinVarGWAS CentralOMIM
Drug and target
TTDGRAC
Post-translational Modifications (PTMs)
CPLMdbPAFPhosSNPPhosphositePlus
dbPTMHPRDPhospho.ELMUniProt
PHOSIDABioGRIDmUbiSiDa
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Alpha-Helix/CUE CUE 25796185
Classification
Family E-value Score Start End
UBD/Alpha-Helix/CUE 1.10e-07 33.3 311 349
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   UBD/Alpha-Helix/CUE

   S: 2    letaleqLkeiFPnldysviqvvLeantgsleaavnnLL 40
    +eta+e++++iFP+l+ys+ +v+ + +++ +++++++L
   Q: 311 VETAQERNEPIFPALIYSSAMVWTVGMAKLDPSSQGALQ 349
    89********************************99986 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Probable 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 other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.
Probable 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 other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. May function in the cytoplasmic partitioning of proteins.
Protein Sequence
(Fasta)
MLAGTVRFAR HCLKFFPAQK PACVDFGASR GRAMLTFMAS DSEEEVCDER TSLMSAESPT 60
PRSCQEGRQG PEDGENTAQW RSQENEEDGE EDPDRYVCSG VPGRPPGLEE ELTLKYGAKH 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046455|UBD,CUE|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AATTTTATGC AGAGCTCCTG GTGGCTCTGA AGCGCCCTAG GGAACAGACC AGGAACATTC 60
TCATGGTGTT AGCTCACATT GGGCCATTAG TGCTCCTTTA ATGTGAGAAC AACCGGGAGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046455|UBD,CUE|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0025--Alternative splicing
KW-0026--Alzheimer disease
KW-1008--Amyloidosis
KW-0122--Cardiomyopathy
KW-0181--Complete proteome
KW-0225--Disease mutation
KW-0256--Endoplasmic reticulum
KW-0333--Golgi apparatus
KW-0378--Hydrolase
KW-0472--Membrane
KW-0523--Neurodegeneration
KW-0914--Notch signaling pathway
KW-0597--Phosphoprotein
KW-0645--Protease
KW-1185--Reference proteome
KW-0812--Transmembrane
KW-1133--Transmembrane helix

Interpro

IPR001493--Pept_A22A_PS2
IPR001108--Peptidase_A22A
IPR006639--Preselin/SPP

Pfam

PF01080--Presenilin

PRINTS

PR01072--PRESENILIN
PR01074--PRESENILIN2

SMART

SM00730--PSN

Gene Ontology

GO:0005813--C:centrosome
GO:0005783--C:endoplasmic reticulum
GO:0005789--C:endoplasmic reticulum membrane
GO:0005794--C:Golgi apparatus
GO:0000139--C:Golgi membrane
GO:0005887--C:integral component of plasma membrane
GO:0000776--C:kinetochore
GO:0016020--C:membrane
GO:0043025--C:neuronal cell body
GO:0005637--C:nuclear inner membrane
GO:0048471--C:perinuclear region of cytoplasm
GO:0005886--C:plasma membrane
GO:0043234--C:protein complex
GO:0030018--C:Z disc
GO:0004190--F:aspartic-type endopeptidase activity
GO:0004175--F:endopeptidase activity
GO:0042987--P:amyloid precursor protein catabolic process
GO:0050435--P:beta-amyloid metabolic process
GO:0006816--P:calcium ion transport
GO:0048013--P:ephrin receptor signaling pathway
GO:0035556--P:intracellular signal transduction
GO:0006509--P:membrane protein ectodomain proteolysis
GO:0031293--P:membrane protein intracellular domain proteolysis
GO:0043066--P:negative regulation of apoptotic process
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:0016485--P:protein processing
GO:0001666--P:response to hypoxia

KEGG hsa:5664
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002356 Ailuropoda melanoleuca 89.23 0.00e+00 644.00
IUUC-Apl-003959 Anas platyrhynchos 77.02 2.00e-163 568.00
IUUC-Aca-005160 Anolis carolinensis 74.35 2.00e-160 558.00
IUUC-Ang-009768 Aspergillus niger 51.85 1.40e-01 32.00
IUUC-Ame-010686 Astyanax mexicanus 79.43 3.00e-147 514.00
IUUC-Bta-013097 Bos taurus 96.66 0.00e+00 729.00
IUUC-Cja-018824 Callithrix jacchus 96.47 0.00e+00 805.00
IUUC-Cfa-020253 Canis familiaris 95.98 0.00e+00 743.00
IUUC-Cpo-021401 Cavia porcellus 93.09 0.00e+00 743.00
IUUC-Cre-022747 Chlamydomonas reinhardtii 33.89 4.00e-30 126.00
IUUC-Csa-023369 Chlorocebus sabaeus 99.78 0.00e+00 776.00
IUUC-Dre-028526 Danio rerio 70.29 2.00e-144 505.00
IUUC-Dor-031127 Dipodomys ordii 91.76 0.00e+00 690.00
IUUC-Ete-033081 Echinops telfairi 84.04 4.00e-94 338.00
IUUC-Eca-034387 Equus caballus 95.82 0.00e+00 714.00
IUUC-Eeu-034846 Erinaceus europaeus 82.03 2.00e-154 538.00
IUUC-Fca-035396 Felis catus 94.92 0.00e+00 764.00
IUUC-Fal-037457 Ficedula albicollis 76.52 6.00e-161 560.00
IUUC-Gga-040706 Gallus gallus 77.46 2.00e-157 548.00
IUUC-Gac-042511 Gasterosteus aculeatus 66.04 8.00e-130 457.00
IUUC-Ggo-045338 Gorilla gorilla 99.79 0.00e+00 847.00
IUUC-Itr-048731 Ictidomys tridecemlineatus 97.32 0.00e+00 756.00
IUUC-Lch-049638 Latimeria chalumnae 69.11 4.00e-147 514.00
IUUC-Loc-052427 Lepisosteus oculatus 75.28 5.00e-158 550.00
IUUC-Laf-053758 Loxodonta africana 89.20 0.00e+00 738.00
IUUC-Mcc-054755 Macaca mulatta 98.13 0.00e+00 828.00
IUUC-Mmr-060890 Microcebus murinus 96.43 0.00e+00 751.00
IUUC-Mdo-062197 Monodelphis domestica 81.00 9.00e-178 616.00
IUUC-Mmu-063823 Mus musculus 95.98 0.00e+00 750.00
IUUC-Mac-064858 Musa acuminata 43.27 9.00e-22 97.40
IUUC-Mpu-066181 Mustela putorius furo 95.54 0.00e+00 740.00
IUUC-Nle-069596 Nomascus leucogenys 100.00 0.00e+00 726.00
IUUC-Opr-070344 Ochotona princeps 95.15 0.00e+00 762.00
IUUC-Ont-071867 Oreochromis niloticus 70.79 2.00e-133 469.00
IUUC-Oan-073378 Ornithorhynchus anatinus 75.61 1.00e-156 545.00
IUUC-Ocu-074652 Oryctolagus cuniculus 94.73 0.00e+00 723.00
IUUC-Obr-076302 Oryza brachyantha 37.68 3.00e-17 83.60
IUUC-Osa-085602 Oryza sativa 37.43 2.00e-17 84.00
IUUC-Ola-086707 Oryzias latipes 71.15 8.00e-107 380.00
IUUC-Oga-088560 Otolemur garnettii 96.90 0.00e+00 719.00
IUUC-Oar-089200 Ovis aries 96.21 0.00e+00 706.00
IUUC-Ptr-090569 Pan troglodytes 99.78 0.00e+00 775.00
IUUC-Pan-091742 Papio anubis 99.78 0.00e+00 775.00
IUUC-Psi-093297 Pelodiscus sinensis 77.10 2.00e-133 468.00
IUUC-Pma-094612 Petromyzon marinus 77.75 2.00e-128 452.00
IUUC-Ppa-095431 Physcomitrella patens 31.78 9.00e-28 118.00
IUUC-Pab-098531 Pongo abelii 99.78 0.00e+00 776.00
IUUC-Pca-101120 Procavia capensis 90.44 0.00e+00 746.00
IUUC-Pva-102934 Pteropus vampyrus 83.78 0.00e+00 717.00
IUUC-Rno-106052 Rattus norvegicus 95.31 0.00e+00 763.00
IUUC-Sha-106876 Sarcophilus harrisii 79.96 3.00e-174 604.00
IUUC-Ssc-115380 Sus scrofa 97.99 0.00e+00 783.00
IUUC-Tgu-117280 Taeniopygia guttata 77.17 7.00e-162 563.00
IUUC-Tbe-127632 Tupaia belangeri 97.98 0.00e+00 651.00
IUUC-Ttr-129008 Tursiops truncatus 92.78 0.00e+00 743.00
Created Date 25-Jun-2017

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