PSEN1 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
oligodendrocyte	16 studies	57% ± 19%	Explore
endothelial cell	15 studies	25% ± 7%	Explore
macrophage	13 studies	28% ± 12%	Explore
astrocyte	11 studies	27% ± 11%	Explore
microglial cell	10 studies	29% ± 9%	Explore
non-classical monocyte	9 studies	27% ± 12%	Explore
monocyte	8 studies	34% ± 16%	Explore
oligodendrocyte precursor cell	8 studies	28% ± 10%	Explore
classical monocyte	7 studies	25% ± 9%	Explore
myeloid cell	7 studies	32% ± 7%	Explore
epithelial cell	7 studies	38% ± 15%	Explore
adipocyte	6 studies	20% ± 4%	Explore
dendritic cell	6 studies	31% ± 9%	Explore
type I pneumocyte	6 studies	21% ± 5%	Explore
GABAergic neuron	6 studies	37% ± 17%	Explore
fibroblast	6 studies	21% ± 5%	Explore
glutamatergic neuron	5 studies	46% ± 21%	Explore
endothelial cell of lymphatic vessel	5 studies	22% ± 4%	Explore
neuron	4 studies	34% ± 20%	Explore
lymphocyte	4 studies	22% ± 5%	Explore
goblet cell	4 studies	30% ± 23%	Explore
alveolar macrophage	4 studies	35% ± 16%	Explore
interneuron	4 studies	36% ± 19%	Explore
conventional dendritic cell	3 studies	26% ± 10%	Explore
hematopoietic precursor cell	3 studies	28% ± 13%	Explore
B cell	3 studies	19% ± 2%	Explore
mononuclear phagocyte	3 studies	27% ± 7%	Explore
ciliated cell	3 studies	26% ± 4%	Explore
abnormal cell	3 studies	22% ± 8%	Explore
club cell	3 studies	21% ± 5%	Explore
T cell	3 studies	18% ± 1%	Explore
pericyte	3 studies	23% ± 6%	Explore
type II pneumocyte	3 studies	21% ± 4%	Explore
basal cell	3 studies	33% ± 13%	Explore
mast cell	3 studies	20% ± 5%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	15 studies	35% ± 20%	Explore
lung	6 studies	22% ± 7%	Explore
peripheral blood	3 studies	22% ± 1%	Explore
intestine	3 studies	19% ± 2%	Explore
adipose	3 studies	19% ± 3%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
bladder	100%	3013.67	21 / 21	100%	27.83	504 / 504
breast	100%	3582.42	459 / 459	100%	38.14	1118 / 1118
esophagus	100%	3180.75	1445 / 1445	100%	32.61	183 / 183
intestine	100%	4237.05	966 / 966	100%	31.93	527 / 527
lung	100%	3908.93	578 / 578	100%	30.87	1155 / 1155
ovary	100%	2913.84	180 / 180	100%	21.10	430 / 430
prostate	100%	3100.59	245 / 245	100%	30.18	502 / 502
stomach	100%	2670.89	359 / 359	100%	28.79	286 / 286
brain	100%	3811.17	2639 / 2642	100%	34.02	705 / 705
uterus	100%	3013.51	170 / 170	100%	28.07	458 / 459
kidney	100%	2908.94	89 / 89	100%	26.22	899 / 901
thymus	100%	3571.25	653 / 653	100%	31.25	603 / 605
skin	100%	5322.77	1809 / 1809	99%	26.12	469 / 472
pancreas	98%	1664.65	322 / 328	99%	34.22	177 / 178
liver	100%	1590.55	225 / 226	98%	14.61	398 / 406
adrenal gland	100%	3301.34	258 / 258	96%	14.82	221 / 230
adipose	100%	3819.33	1204 / 1204	0%	0	0 / 0
lymph node	0%	0	0 / 0	100%	19.23	29 / 29
spleen	100%	3452.86	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	27.42	45 / 45
ureter	0%	0	0 / 0	100%	13.55	1 / 1
blood vessel	100%	2879.77	1334 / 1335	0%	0	0 / 0
peripheral blood	99%	5524.02	922 / 929	0%	0	0 / 0
muscle	99%	1823.94	796 / 803	0%	0	0 / 0
eye	0%	0	0 / 0	99%	24.58	79 / 80
heart	95%	1492.78	822 / 861	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_1905908	Biological process	positive regulation of amyloid fibril formation
GO_0010468	Biological process	regulation of gene expression
GO_0001947	Biological process	heart looping
GO_0001764	Biological process	neuron migration
GO_0042325	Biological process	regulation of phosphorylation
GO_0051402	Biological process	neuron apoptotic process
GO_0001933	Biological process	negative regulation of protein phosphorylation
GO_0043066	Biological process	negative regulation of apoptotic process
GO_0043011	Biological process	myeloid dendritic cell differentiation
GO_2001234	Biological process	negative regulation of apoptotic signaling pathway
GO_0021549	Biological process	cerebellum development
GO_0007613	Biological process	memory
GO_0042982	Biological process	amyloid precursor protein metabolic process
GO_0006979	Biological process	response to oxidative stress
GO_0060828	Biological process	regulation of canonical Wnt signaling pathway
GO_0006486	Biological process	protein glycosylation
GO_0050673	Biological process	epithelial cell proliferation
GO_0097190	Biological process	apoptotic signaling pathway
GO_0002244	Biological process	hematopoietic progenitor cell differentiation
GO_2000059	Biological process	negative regulation of ubiquitin-dependent protein catabolic process
GO_0007219	Biological process	Notch signaling pathway
GO_0010629	Biological process	negative regulation of gene expression
GO_0000045	Biological process	autophagosome assembly
GO_0048143	Biological process	astrocyte activation
GO_0032436	Biological process	positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO_0010628	Biological process	positive regulation of gene expression
GO_0098712	Biological process	L-glutamate import across plasma membrane
GO_0042307	Biological process	positive regulation of protein import into nucleus
GO_0006839	Biological process	mitochondrial transport
GO_0051966	Biological process	regulation of synaptic transmission, glutamatergic
GO_0050852	Biological process	T cell receptor signaling pathway
GO_0021795	Biological process	cerebral cortex cell migration
GO_0050820	Biological process	positive regulation of coagulation
GO_0021870	Biological process	Cajal-Retzius cell differentiation
GO_0030326	Biological process	embryonic limb morphogenesis
GO_0001568	Biological process	blood vessel development
GO_0010975	Biological process	regulation of neuron projection development
GO_0045821	Biological process	positive regulation of glycolytic process
GO_0060075	Biological process	regulation of resting membrane potential
GO_0032760	Biological process	positive regulation of tumor necrosis factor production
GO_0140249	Biological process	protein catabolic process at postsynapse
GO_0070588	Biological process	calcium ion transmembrane transport
GO_0002286	Biological process	T cell activation involved in immune response
GO_0048705	Biological process	skeletal system morphogenesis
GO_0007220	Biological process	Notch receptor processing
GO_0051208	Biological process	sequestering of calcium ion
GO_0016080	Biological process	synaptic vesicle targeting
GO_0001708	Biological process	cell fate specification
GO_1904797	Biological process	negative regulation of core promoter binding
GO_0016485	Biological process	protein processing
GO_0001934	Biological process	positive regulation of protein phosphorylation
GO_0002265	Biological process	astrocyte activation involved in immune response
GO_0045893	Biological process	positive regulation of DNA-templated transcription
GO_0048666	Biological process	neuron development
GO_0048538	Biological process	thymus development
GO_0060999	Biological process	positive regulation of dendritic spine development
GO_0001756	Biological process	somitogenesis
GO_0002038	Biological process	positive regulation of L-glutamate import across plasma membrane
GO_0043589	Biological process	skin morphogenesis
GO_0043524	Biological process	negative regulation of neuron apoptotic process
GO_0050808	Biological process	synapse organization
GO_0043065	Biological process	positive regulation of apoptotic process
GO_0042987	Biological process	amyloid precursor protein catabolic process
GO_1904646	Biological process	cellular response to amyloid-beta
GO_0034205	Biological process	amyloid-beta formation
GO_0055074	Biological process	calcium ion homeostasis
GO_0001921	Biological process	positive regulation of receptor recycling
GO_0009791	Biological process	post-embryonic development
GO_0007611	Biological process	learning or memory
GO_0050771	Biological process	negative regulation of axonogenesis
GO_0006974	Biological process	DNA damage response
GO_0040011	Biological process	locomotion
GO_1990535	Biological process	neuron projection maintenance
GO_1905598	Biological process	negative regulation of low-density lipoprotein receptor activity
GO_0000122	Biological process	negative regulation of transcription by RNA polymerase II
GO_0021904	Biological process	dorsal/ventral neural tube patterning
GO_0051563	Biological process	smooth endoplasmic reticulum calcium ion homeostasis
GO_0070050	Biological process	neuron cellular homeostasis
GO_0048167	Biological process	regulation of synaptic plasticity
GO_0035556	Biological process	intracellular signal transduction
GO_0098693	Biological process	regulation of synaptic vesicle cycle
GO_0048854	Biological process	brain morphogenesis
GO_0015031	Biological process	protein transport
GO_0015871	Biological process	choline transport
GO_0098609	Biological process	cell-cell adhesion
GO_0032469	Biological process	endoplasmic reticulum calcium ion homeostasis
GO_0003407	Biological process	neural retina development
GO_0006509	Biological process	membrane protein ectodomain proteolysis
GO_0099175	Biological process	regulation of postsynapse organization
GO_0098978	Cellular component	glutamatergic synapse
GO_0045121	Cellular component	membrane raft
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_0016235	Cellular component	aggresome
GO_0098794	Cellular component	postsynapse
GO_0043025	Cellular component	neuronal cell body
GO_0005640	Cellular component	nuclear outer membrane
GO_0043005	Cellular component	neuron projection
GO_0035253	Cellular component	ciliary rootlet
GO_0009986	Cellular component	cell surface
GO_0008021	Cellular component	synaptic vesicle
GO_0005634	Cellular component	nucleus
GO_0070765	Cellular component	gamma-secretase complex
GO_0031901	Cellular component	early endosome membrane
GO_0035577	Cellular component	azurophil granule membrane
GO_0005654	Cellular component	nucleoplasm
GO_0042734	Cellular component	presynaptic membrane
GO_0030425	Cellular component	dendrite
GO_0005886	Cellular component	plasma membrane
GO_0016020	Cellular component	membrane
GO_0005739	Cellular component	mitochondrion
GO_0043198	Cellular component	dendritic shaft
GO_0005790	Cellular component	smooth endoplasmic reticulum
GO_0005813	Cellular component	centrosome
GO_0032991	Cellular component	protein-containing complex
GO_0005794	Cellular component	Golgi apparatus
GO_0005743	Cellular component	mitochondrial inner membrane
GO_0000139	Cellular component	Golgi membrane
GO_0005783	Cellular component	endoplasmic reticulum
GO_0031594	Cellular component	neuromuscular junction
GO_0000776	Cellular component	kinetochore
GO_0042383	Cellular component	sarcolemma
GO_0005938	Cellular component	cell cortex
GO_0030426	Cellular component	growth cone
GO_0030054	Cellular component	cell junction
GO_0005791	Cellular component	rough endoplasmic reticulum
GO_0031965	Cellular component	nuclear membrane
GO_0051117	Molecular function	ATPase binding
GO_0004190	Molecular function	aspartic-type endopeptidase activity
GO_0004175	Molecular function	endopeptidase activity
GO_0070851	Molecular function	growth factor receptor binding
GO_0030165	Molecular function	PDZ domain binding
GO_0005515	Molecular function	protein binding
GO_0005262	Molecular function	calcium channel activity
GO_0042500	Molecular function	aspartic endopeptidase activity, intramembrane cleaving
GO_0045296	Molecular function	cadherin binding
GO_0008013	Molecular function	beta-catenin binding

IV. Literature review

[source]

Gene name	PSEN1
Protein name	Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)] Presenilin 1 Presenilin (EC 3.4.23.-) Presenilin-1 Presenilin 1 isoform 3
Synonyms	hCG_21521 AD3 PS1 PSNL1
Description	FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: 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 presence of the other members of the gamma-secretase complex for protease activity . 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 . 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) . Under conditions of apoptosis or calcium influx, cleaves CDH1 . 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 . Required for normal embryonic brain and skeleton development, and for normal angiogenesis (By similarity). Mediates the proteolytic cleavage of EphB2/CTF1 into EphB2/CTF2 . The holoprotein functions as a calcium-leak channel that allows the passive movement of calcium from endoplasmic reticulum to cytosol and is therefore involved in calcium homeostasis . Involved in the regulation of neurite outgrowth . Is a regulator of presynaptic facilitation, spike transmission and synaptic vesicles replenishment in a process that depends on gamma-secretase activity. It acts through the control of SYT7 presynaptic expression (By similarity). . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. . FUNCTION: Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors. .
Accessions	ENST00000700389.1 [P49768-2] ENST00000700304.1 A0A8V8TQ93 A0A218KGP3 ENST00000559361.6 A0A8V8TQ58 A0A8V8TQ90 ENST00000557511.5 [P49768-6] A0A8V8TPL0 ENST00000700320.1 ENST00000560005.6 A0A8V8TPK5 ENST00000553855.5 [P49768-5] A0A8V8TQ36 ENST00000553599.5 ENST00000394164.5 [P49768-2] ENST00000700312.1 ENST00000700377.1 A0A8V8TLT5 A0A218KGN3 ENST00000700311.1 ENST00000553599.6 [P49768-2] A0A8V8TQU7 ENST00000700268.1 [P49768-1] G3V4M0 ENST00000554131.6 [P49768-1] ENST00000700313.1 [P49768-2] ENST00000700271.1 A0A8V8TQU9 ENST00000700305.1 G3V490 A0A218KGN4 ENST00000700316.1 A0A8V8TR55 ENST00000357710.8 [P49768-2] A0A024R6A3 ENST00000697912.1 A0A8V8TR52 ENST00000700318.1 ENST00000557037.5 ENST00000557293.6 ENST00000554131.5 ENST00000700302.1 A0A8V8TQ54 ENST00000700324.1 [P49768-2] ENST00000700321.1 [P49768-1] ENST00000700269.1 [P49768-1] ENST00000700265.1 [P49768-2] A0A218KGQ6 A0A8V8TQT3 G3V3P0 ENST00000700306.1 [P49768-1] G3V2G7 ENST00000700303.1 ENST00000700308.1 A0A218KGN7 G3V519 ENST00000700315.1 ENST00000553447.7 ENST00000394157.7 [P49768-4] G3V2B1 ENST00000700430.1 A0A218KGP1 ENST00000556533.5 ENST00000700310.1 A0A8V8TQ30 ENST00000700436.1 [P49768-5] ENST00000700375.1 [P49768-1] ENST00000700468.1 Q6F4C0 G3V449 A0A8V8TQV2 ENST00000556951.5 ENST00000700266.1 ENST00000700307.1 A0A8V8TR50 ENST00000700273.1 [P49768-2] ENST00000700437.1 A0A8V8TQ53 ENST00000556864.5 ENST00000700469.1 [P49768-2] ENST00000700319.1 H0YM52 ENST00000700431.1 H0YNU4 ENST00000324501.10 [P49768-1] A0A8V8TPL5 ENST00000700309.1 ENST00000700272.1 G3V3Z0 ENST00000555254.5 ENST00000556951.6 [P49768-2] A0A218KGP0 P49768 A0A0S2Z4D2 A0A218KGQ3 ENST00000700322.1 [P49768-2] ENST00000555386.6 [P49768-3] ENST00000700317.1 [P49768-1] ENST00000700314.1 ENST00000557356.5 ENST00000700378.1 [P49768-1] ENST00000556011.6 ENST00000700323.1 [P49768-1] A0A0S2Z484 G3V4P4 ENST00000700267.1 [P49768-1]

PSEN1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review