LLPS-Hos-2647
PSEN2
▼ OVERVIEW
Status: | Reviewed |
Protein Name: | Presenilin-2 |
Gene Name: | PSEN2, AD4, PS2, PSNL2, STM2 |
Ensembl Gene: | ENSG00000143801.16 |
Ensembl Protein: | ENSP00000429682.1 |
Organism: | Homo sapiens |
Taxa ID: | 9606 |
LLPS Type: | Client |
▼ Classification
▼ FUNCTION
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 (amyloid-beta 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. The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is involved in calcium homeostasis (PubMed:16959576). Is a regulator of mitochondrion-endoplasmic reticulum membrane tethering and modulates calcium ions shuttling between ER and mitochondria (PubMed:21285369). |
▼ CROSS REFERENCE
Database | Nucleotide ID | Protein ID |
---|---|---|
Ensembl | ENST00000495488.5 | ENSP00000429682.1 |
Ensembl | ENST00000472139.2 | ENSP00000427806.1 |
Ensembl | ENST00000366783.7 | ENSP00000355747.3 |
Ensembl | ENST00000366782.5 | ENSP00000355746.1 |
Ensembl | ENST00000524196.5 | ENSP00000429036.1 |
Ensembl | ENST00000422240.6 | ENSP00000403737.2 |
Ensembl | ENST00000460775.5 | ENSP00000427912.1 |
Ensembl | ENST00000626989.2 | ENSP00000486498.1 |
UniProt | P49810, PSN2_HUMAN, A8K8D4, B1AP21, Q96P32 | |
GeneBank | AL391628, L43964, CH471098, AK292299, BC006365, L44577, AF416718, BT006984, U50871, U34349 | EAW69800.1, AAB50054.1, AAB59557.1, AAC50290.1, AAH06365.1, AAC42012.1, AAP35630.1, BAF84988.1, EAW69798.1, AAL16812.1 |
RefSeq | NM_000447.2, NM_012486.2, XM_005273199.3, XM_017001835.1, XM_017001836.1 | NP_000438.2, NP_036618.2, XP_005273256.1, XP_016857324.1, XP_016857325.1 |
Entrez | 5664 |
▼ SEQUENCE
Protein Sequence (FASTA) |
---|
1 MLAGTVRFAR HCLKFFPAQK PACVDFGASR GRAMLTFMAS DSEEEVCDER TSLMSAESPT 60 61 PRSCQEGRQG PEDGENTAQW RSQENEEDGE EDPDRYVCSG VPGRPPGLEE ELTLKYGAKH 120 121 VIMLFVPVTL CMIVVVATIK SVRFYTEKNG QLIYTPFTED TPSVGQRLLN SVLNTLIMIS 180 181 VIVVMTIFLV VLYKYRCYKF IHGWLIMSSL MLLFLFTYIY LGEVLKTYNV AMDYPTLLLT 240 241 VWNFGAVGMV CIHWKGPLVL QQAYLIMISA LMALVFIKYL PEWSAWVILG AISVYDLVAV 300 301 LCPKGPLRML VETAQERNEP IFPALIYSSA MVWTVGMAKL DPSSQGALQL PYDPEMEEDS 360 361 YDSFGEPSYP EVFEPPLTGY PGEELEEEEE RGVKLGLGDF IFYSVLVGKA AATGSGDWNT 420 421 TLACFVAILI GLCLTLLLLA VFKKALPALP ISITFGLIFY FSTDNLVRPF MDTLASHQLY 480 481 I 481 |
Nucleotide CDS Sequence (FASTA) |
1 ATGCTCACAT TCATGGCCTC TGACAGCGAG GAAGAAGTGT GTGATGAGCG GACGTCCCTA 60 61 ATGTCGGCTG AGAGCCCCAC GCCGCGCTCC TGCCAGGAGG GCAGGCAGGG CCCAGAGGAT 120 121 GGAGAGAACA CTGCCCAGTG GAGAAGCCAG GAGAACGAGG AGGACGGTGA GGAGGACCCT 180 181 GACCGCTATG TCTGTAGTGG GGTTCCCGGG CGGCCGCCAG GCCTGGAGGA AGAGCTGACC 240 241 CTCAAATACG GAGCGAAGCA CGTGATCATG CTGTTTGTGC CTGTCACTCT GTGCATGATC 300 301 GTGGTGGTAG CCACCATCAA GTCTGTGCGC TTCTACACAG AGAAGAATGG ACAGCTCATC 360 361 TACACGCCAT TCACTGAGGA CACACCCTCG GTGGGCCAGC GCCTCCTCAA CTCCGTGCTG 420 421 AACACCCTCA TCATGATCAG CGTCATCGTG GTTATGACCA TCTTCTTGGT GGTGCTCTAC 480 481 AAGTACCGCT GCTACAAGTT CATCCATGGC TGGTTGATCA TGTCTTCACT GATGCTGCTG 540 541 TTCCTCTTCA CCTATATCTA CCTTGGGGAA GTGCTCAAGA CCTACAATGT GGCCATGGAC 600 601 TACCCCACCC TCTTGCTGAC TGTCTGGAAC TTCGGGGCAG TGGGCATGGT GTGCATCCAC 660 661 TGGAAGGGCC CTCTGGTGCT GCAGCAGGCC TACCTCATCA TGATCAGTGC GCTCATGGCC 720 721 CTAGTGTTCA TCAAGTACCT CCCAGAGTGG TCCGCGTGGG TCATCCTGGG CGCCATCTCT 780 781 GTGTATGATC TCGTGGCTGT GCTGTGTCCC AAAGGGCCTC TGAGAATGCT GGTAGAAACT 840 841 GCCCAGGAGA GAAATGAGCC CATATTCCCT GCCCTGATAT ACTCATCTGC CATGGTGTGG 900 901 ACGGTTGGCA TGGCGAAGCT GGACCCCTCC TCTCAGGGTG CCCTCCAGCT CCCCTACGAC 960 961 CCGGAGATGG AAGACTCCTA TGACAGTTTT GGGGAGCCTT CATACCCCGA AGTCTTTGAG 1020 1021 CCTCCCTTGA CTGGCTACCC AGGGGAGGAG CTGGAGGAAG AGGAGGAAAG GGGCGTGAAG 1080 1081 CTTGGCCTCG GGGACTTCAT CTTCTACAGT GTGCTGGTGG GCAAGGCGGC TGCCACGGGC 1140 1141 AGCGGGGACT GGAATACCAC GCTGGCCTGC TTCGTGGCCA TCCTCATTGG CTTGTGTCTG 1200 1201 ACCCTCCTGC TGCTTGCTGT GTTCAAGAAG GCGCTGCCCG CCCTCCCCAT CTCCATCACG 1260 1261 TTCGGGCTCA TCTTTTACTT CTCCACGGAC AACCTGGTGC GGCCGTTCAT GGACACCCTG 1320 1321 GCCTCCCATC AGCTCTACAT CTGA 1344 |
▼ KEYWORD
ID | Family |
Alternative splicing | |
Alzheimer disease | |
Amyloidosis | |
Cardiomyopathy | |
Complete proteome | |
Disease mutation | |
Endoplasmic reticulum | |
Golgi apparatus | |
Hydrolase | |
Membrane | |
Neurodegeneration | |
Notch signaling pathway | |
Phosphoprotein | |
Protease | |
Reference proteome | |
Transmembrane | |
Transmembrane helix
|
▼ GENE ONTOLOGY
ID | Classification | Description |
Cellular Component | Apical plasma membrane | |
Cellular Component | Cell cortex | |
Cellular Component | Centrosome | |
Cellular Component | Early endosome | |
Cellular Component | Endoplasmic reticulum | |
Cellular Component | Endoplasmic reticulum membrane | |
Cellular Component | Golgi apparatus | |
Cellular Component | Golgi membrane | |
Cellular Component | Integral component of plasma membrane | |
Cellular Component | Integral component of presynaptic membrane | |
Cellular Component | Kinetochore | |
Cellular Component | Membrane | |
Cellular Component | Neuronal cell body | |
Cellular Component | Nuclear inner membrane | |
Cellular Component | Nucleus | |
Cellular Component | Perinuclear region of cytoplasm | |
Cellular Component | Plasma membrane | |
Cellular Component | Protein-containing complex | |
Cellular Component | Synaptic vesicle | |
Cellular Component | Z disc | |
Molecular Function | Aspartic endopeptidase activity, intramembrane cleaving | |
Molecular Function | Aspartic-type endopeptidase activity | |
Molecular Function | Endopeptidase activity | |
Biological Process | Amyloid precursor protein catabolic process | |
Biological Process | Amyloid-beta metabolic process | |
Biological Process | Calcium ion transport | |
Biological Process | Intracellular signal transduction | |
Biological Process | Membrane protein ectodomain proteolysis | |
Biological Process | Mitochondrion-endoplasmic reticulum membrane tethering | |
Biological Process | Notch receptor processing | |
Biological Process | Notch receptor processing, ligand-dependent | |
Biological Process | Positive regulation of catalytic activity | |
Biological Process | Protein processing | |
Biological Process | Regulation of calcium import into the mitochondrion | |
Biological Process | Response to hypoxia |
▼ ANNOTATION
Physicochemical | ||||
Compute pI/Mw | AAindex |
Function | ||||
PIRSF | CORUM | CellMarker |
Localization | ||||
COMPARTMENTS |
Methylation | ||||
TCGA | ICGC | MethyCancer |
▼ ORTHOLOGY
DrLLPS ID | Organism | Identity | E-value | Score |
---|---|---|---|---|
LLPS-Nol-2271 | Nomascus leucogenys | 100.0 | 0.0 | 792 |
LLPS-Gog-3717 | Gorilla gorilla | 99.79 | 0.0 | 847 |
LLPS-Chs-2964 | Chlorocebus sabaeus | 99.78 | 0.0 | 776 |
LLPS-Poa-1921 | Pongo abelii | 99.78 | 0.0 | 776 |
LLPS-Mam-2078 | Macaca mulatta | 98.13 | 0.0 | 828 |
LLPS-Paa-4200 | Papio anubis | 97.92 | 0.0 | 825 |
LLPS-Mal-1415 | Mandrillus leucophaeus | 97.92 | 0.0 | 825 |
LLPS-Maf-0682 | Macaca fascicularis | 97.92 | 0.0 | 825 |
LLPS-Cea-4034 | Cercocebus atys | 97.92 | 0.0 | 825 |
LLPS-Rhb-0845 | Rhinopithecus bieti | 97.92 | 0.0 | 827 |
LLPS-Man-4688 | Macaca nemestrina | 97.92 | 0.0 | 825 |
LLPS-Caj-3286 | Callithrix jacchus | 97.71 | 0.0 | 819 |
LLPS-Aon-3673 | Aotus nancymaae | 97.51 | 0.0 | 811 |
LLPS-Ict-4240 | Ictidomys tridecemlineatus | 97.32 | 0.0 | 754 |
LLPS-Bot-4517 | Bos taurus | 96.66 | 0.0 | 728 |
LLPS-Sus-3914 | Sus scrofa | 96.52 | 0.0 | 765 |
LLPS-Eqc-3247 | Equus caballus | 96.46 | 0.0 | 648 |
LLPS-Mum-4859 | Mus musculus | 95.98 | 0.0 | 747 |
LLPS-Caf-3645 | Canis familiaris | 95.98 | 0.0 | 740 |
LLPS-Mea-3808 | Mesocricetus auratus | 95.76 | 0.0 | 748 |
LLPS-Ova-3993 | Ovis aries | 95.55 | 0.0 | 711 |
LLPS-Mup-0978 | Mustela putorius furo | 95.54 | 0.0 | 738 |
LLPS-Cap-1399 | Cavia porcellus | 95.54 | 0.0 | 739 |
LLPS-Ran-2773 | Rattus norvegicus | 95.31 | 0.0 | 747 |
LLPS-Fud-2182 | Fukomys damarensis | 95.09 | 0.0 | 735 |
LLPS-Cas-0771 | Carlito syrichta | 94.92 | 0.0 | 766 |
LLPS-Orc-1096 | Oryctolagus cuniculus | 94.73 | 0.0 | 746 |
LLPS-Pap-3651 | Pan paniscus | 93.84 | 0.0 | 775 |
LLPS-Pat-2264 | Pan troglodytes | 93.84 | 0.0 | 775 |
LLPS-Dio-2002 | Dipodomys ordii | 91.74 | 0.0 | 707 |
LLPS-Loa-0392 | Loxodonta africana | 91.35 | 0.0 | 718 |
LLPS-Fec-0910 | Felis catus | 90.42 | 0.0 | 733 |
LLPS-Icp-4236 | Ictalurus punctatus | 90.36 | 4e-22 | 102 |
LLPS-Asm-2522 | Astyanax mexicanus | 89.16 | 3e-22 | 103 |
LLPS-Dar-2676 | Danio rerio | 89.16 | 4e-22 | 102 |
LLPS-Orn-2186 | Oreochromis niloticus | 87.95 | 4e-21 | 100 |
LLPS-Aim-4141 | Ailuropoda melanoleuca | 87.02 | 0.0 | 677 |
LLPS-Gaa-3184 | Gasterosteus aculeatus | 86.75 | 3e-20 | 97.1 |
LLPS-Pof-2375 | Poecilia formosa | 86.75 | 4e-21 | 99.8 |
LLPS-Xim-0343 | Xiphophorus maculatus | 85.54 | 6e-21 | 99.4 |
LLPS-Ten-1255 | Tetraodon nigroviridis | 85.54 | 9e-20 | 95.9 |
LLPS-Lac-1374 | Latimeria chalumnae | 83.87 | 4e-08 | 59.7 |
LLPS-Myl-3423 | Myotis lucifugus | 83.05 | 0.0 | 531 |
LLPS-Mod-2422 | Monodelphis domestica | 80.79 | 0.0 | 587 |
LLPS-Sah-2117 | Sarcophilus harrisii | 79.74 | 0.0 | 576 |
LLPS-Gaga-3281 | Gallus gallus | 77.73 | 0.0 | 563 |
LLPS-Pes-2229 | Pelodiscus sinensis | 77.1 | 1e-162 | 473 |
LLPS-Tag-0659 | Taeniopygia guttata | 76.96 | 0.0 | 565 |
LLPS-Fia-0507 | Ficedula albicollis | 76.09 | 0.0 | 561 |
LLPS-Anc-4027 | Anolis carolinensis | 75.65 | 0.0 | 556 |
LLPS-Ora-1962 | Ornithorhynchus anatinus | 75.56 | 5e-180 | 518 |
LLPS-Anp-1862 | Anas platyrhynchos | 75.53 | 0.0 | 561 |
LLPS-Meg-1688 | Meleagris gallopavo | 75.48 | 0.0 | 550 |
LLPS-Scf-1984 | Scleropages formosus | 73.73 | 0.0 | 530 |
LLPS-Drm-1443 | Drosophila melanogaster | 72.29 | 6e-12 | 72.0 |
LLPS-Xet-3910 | Xenopus tropicalis | 71.8 | 0.0 | 544 |
LLPS-Scm-1073 | Scophthalmus maximus | 68.61 | 2e-141 | 422 |
LLPS-Tar-3362 | Takifugu rubripes | 68.5 | 6e-162 | 473 |
LLPS-Ere-0423 | Erinaceus europaeus | 67.32 | 7e-94 | 294 |
LLPS-Sei-1031 | Setaria italica | 52.05 | 7e-13 | 74.3 |
LLPS-Chc-0955 | Chondrus crispus | 42.48 | 1e-28 | 122 |
LLPS-Orb-2200 | Oryza barthii | 41.12 | 6e-18 | 89.7 |
LLPS-Abg-1272 | Absidia glauca | 39.33 | 7e-27 | 117 |
LLPS-Osl-1471 | Ostreococcus lucimarinus | 38.18 | 1e-35 | 140 |
LLPS-Hov-0889 | Hordeum vulgare | 37.91 | 3e-20 | 95.5 |
LLPS-Orni-1970 | Oryza nivara | 37.43 | 2e-25 | 111 |
LLPS-Orr-1673 | Oryza rufipogon | 37.43 | 2e-25 | 111 |
LLPS-Ors-0876 | Oryza sativa | 37.43 | 1e-25 | 112 |
LLPS-Orp-2362 | Oryza punctata | 37.43 | 5e-25 | 110 |
LLPS-Orgl-1676 | Oryza glumaepatula | 36.87 | 4e-25 | 110 |
LLPS-Prp-1993 | Prunus persica | 35.91 | 4e-25 | 111 |
LLPS-Orbr-1011 | Oryza brachyantha | 35.75 | 1e-24 | 110 |
LLPS-Vir-2043 | Vigna radiata | 35.0 | 3e-25 | 110 |
LLPS-Thc-1713 | Theobroma cacao | 35.0 | 2e-24 | 108 |
LLPS-Tra-1419 | Triticum aestivum | 34.91 | 3e-26 | 114 |
LLPS-Gor-2618 | Gossypium raimondii | 34.81 | 3e-23 | 105 |
LLPS-Mae-0556 | Manihot esculenta | 34.39 | 1e-26 | 115 |
LLPS-Viv-1899 | Vitis vinifera | 34.34 | 8e-25 | 110 |
LLPS-Tru-1880 | Triticum urartu | 34.29 | 8e-24 | 107 |
LLPS-Sem-1837 | Selaginella moellendorffii | 34.25 | 6e-22 | 101 |
LLPS-Brd-1691 | Brachypodium distachyon | 34.13 | 4e-28 | 120 |
LLPS-Lep-0962 | Leersia perrieri | 33.95 | 9e-23 | 104 |
LLPS-Phv-2258 | Phaseolus vulgaris | 33.64 | 4e-26 | 113 |
LLPS-Sot-0293 | Solanum tuberosum | 33.33 | 8e-28 | 118 |
LLPS-Coc-1807 | Corchorus capsularis | 33.33 | 2e-25 | 111 |
LLPS-Orm-1243 | Oryza meridionalis | 33.33 | 2e-26 | 115 |
LLPS-Bro-2033 | Brassica oleracea | 33.08 | 1e-25 | 112 |
LLPS-Ori-1544 | Oryza indica | 33.04 | 6e-26 | 114 |
LLPS-Sob-0943 | Sorghum bicolor | 32.67 | 2e-28 | 120 |
LLPS-Org-0827 | Oryza glaberrima | 32.6 | 8e-26 | 113 |
LLPS-Pot-1757 | Populus trichocarpa | 32.58 | 3e-27 | 117 |
LLPS-Zem-0185 | Zea mays | 32.5 | 3e-27 | 117 |
LLPS-Met-2504 | Medicago truncatula | 32.31 | 1e-26 | 115 |
LLPS-Hea-0901 | Helianthus annuus | 32.27 | 5e-25 | 110 |
LLPS-Via-2394 | Vigna angularis | 32.16 | 1e-26 | 115 |
LLPS-Nia-1020 | Nicotiana attenuata | 32.11 | 8e-26 | 113 |
LLPS-Sol-2327 | Solanum lycopersicum | 31.86 | 4e-28 | 119 |
LLPS-Cae-0700 | Caenorhabditis elegans | 31.72 | 6e-32 | 129 |
LLPS-Dac-1535 | Daucus carota | 31.47 | 1e-21 | 100 |
LLPS-Amt-1824 | Amborella trichopoda | 31.42 | 4e-25 | 111 |
LLPS-Art-2993 | Arabidopsis thaliana | 31.16 | 2e-23 | 106 |
LLPS-Glm-2366 | Glycine max | 30.67 | 2e-24 | 108 |
LLPS-Brn-0480 | Brassica napus | 30.29 | 7e-22 | 101 |
LLPS-Brr-2369 | Brassica rapa | 30.29 | 1e-21 | 100 |
LLPS-Arl-0226 | Arabidopsis lyrata | 29.77 | 6e-23 | 105 |
LLPS-Cus-0346 | Cucumis sativus | 29.75 | 9e-24 | 107 |