Reactome | PSEN1(299-467) [plasma membrane]

PSEN1(299-467) [plasma membrane]

Stable Identifier

R-HSA-2534245

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Presenilin-1 C-terminal fragment, Presenilin-1 CTF subunit

Locations in the PathwayBrowser

Expand all

Developmental Biology (Homo sapiens)

- Nervous system development (Homo sapiens)
  - Axon guidance (Homo sapiens)
    - EPH-Ephrin signaling (Homo sapiens)
      - EPH-ephrin mediated repulsion of cells (Homo sapiens)
        
        gamma-secretase cleaves EPHB2 (Homo sapiens)
        
        gamma-secretase complex [plasma membrane] (Homo sapiens)
        
        Presenilin [plasma membrane] (Homo sapiens)
        
        PSEN1 [plasma membrane] (Homo sapiens)
        
        PSEN1(299-467) [plasma membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:P49768 PSEN1

Gene Names

PSEN1, AD3, PS1, PSNL1

Chain

chain:1-298, chain:299-467, chain:346-467

Reference Genes

BioGPS Gene:5663 PSEN1

COSMIC (genes):PSEN1 PSEN1

CTD Gene:5663 PSEN1

dbSNP Gene:5663 PSEN1

ENSEMBL:ENSG00000080815 PSEN1

ENSEMBL_homo_sapiens_GENE:ENSG00000080815.20 PSEN1

HGNC:9508 PSEN1

KEGG Gene (Homo sapiens):5663 PSEN1

Monarch:5663 PSEN1

NCBI Gene:5663 PSEN1

OMIM:104311 PSEN1

UCSC:P49768 PSEN1

Reference Transcript

Other Identifiers

11718678_a_at

11718679_a_at

11749842_a_at

11756571_a_at

16786167

203460_PM_s_at

203460_s_at

207782_PM_s_at

207782_s_at

226577_PM_at

226577_at

238816_PM_at

238816_at

3543482

3543483

3543484

3543485

3543486

3543491

3543492

3543493

3543494

3543495

3543497

3543498

3543499

3543500

3543502

3543503

3543504

3543507

3543509

3543512

3543514

3543515

3543517

3543518

3543519

3543520

3543521

3543522

3543523

35658_at

54683_at

5663

641_at

642_s_at

77381_at

7975545

A_14_P113909

A_14_P134110

A_23_P106174

A_23_P205686

A_23_P340728

GE57790

GE84707

GO:0000045

GO:0000122

GO:0000139

GO:0000776

GO:0001568

GO:0001708

GO:0001756

GO:0001764

GO:0001921

GO:0001933

GO:0001934

GO:0001947

GO:0002038

GO:0002244

GO:0002265

GO:0002286

GO:0002376

GO:0002573

GO:0003407

GO:0003824

GO:0004175

GO:0004190

GO:0005215

GO:0005262

GO:0005515

GO:0005634

GO:0005635

GO:0005640

GO:0005654

GO:0005694

GO:0005737

GO:0005739

GO:0005743

GO:0005764

GO:0005765

GO:0005768

GO:0005769

GO:0005773

GO:0005783

GO:0005789

GO:0005790

GO:0005791

GO:0005794

GO:0005813

GO:0005815

GO:0005856

GO:0005886

GO:0005929

GO:0005938

GO:0005975

GO:0006091

GO:0006351

GO:0006355

GO:0006486

GO:0006508

GO:0006509

GO:0006816

GO:0006839

GO:0006874

GO:0006886

GO:0006913

GO:0006914

GO:0006915

GO:0006954

GO:0006974

GO:0006979

GO:0007155

GO:0007219

GO:0007220

GO:0007420

GO:0007507

GO:0007611

GO:0007613

GO:0008013

GO:0008021

GO:0008233

GO:0009791

GO:0009986

GO:0010008

GO:0010467

GO:0010468

GO:0010628

GO:0010629

GO:0010975

GO:0012501

GO:0015031

GO:0015871

GO:0016020

GO:0016080

GO:0016192

GO:0016235

GO:0016324

GO:0016485

GO:0016787

GO:0019538

GO:0021549

GO:0021795

GO:0021870

GO:0021904

GO:0021987

GO:0022008

GO:0023052

GO:0030018

GO:0030054

GO:0030154

GO:0030163

GO:0030165

GO:0030182

GO:0030326

GO:0030424

GO:0030425

GO:0030426

GO:0030900

GO:0031410

GO:0031594

GO:0031901

GO:0031965

GO:0032092

GO:0032436

GO:0032469

GO:0032760

GO:0032991

GO:0034205

GO:0034330

GO:0035253

GO:0035282

GO:0035556

GO:0035577

GO:0036211

GO:0040011

GO:0042307

GO:0042325

GO:0042383

GO:0042500

GO:0042734

GO:0042982

GO:0042987

GO:0042995

GO:0043005

GO:0043011

GO:0043025

GO:0043065

GO:0043066

GO:0043085

GO:0043198

GO:0043226

GO:0043227

GO:0043524

GO:0043589

GO:0045121

GO:0045202

GO:0045296

GO:0045821

GO:0045893

GO:0048143

GO:0048167

GO:0048471

GO:0048538

GO:0048666

GO:0048705

GO:0048854

GO:0048856

GO:0048870

GO:0050435

GO:0050673

GO:0050771

GO:0050808

GO:0050820

GO:0050852

GO:0050877

GO:0051117

GO:0051208

GO:0051402

GO:0051563

GO:0051604

GO:0051966

GO:0055065

GO:0055085

GO:0055086

GO:0060075

GO:0060828

GO:0060999

GO:0070050

GO:0070588

GO:0070765

GO:0070851

GO:0097060

GO:0097190

GO:0098609

GO:0098693

GO:0098712

GO:0098794

GO:0098978

GO:0099175

GO:0140096

GO:0140249

GO:1901135

GO:1904646

GO:1904797

GO:1905908

GO:1990535

GO:2000059

GO:2001234

HMNXSV003003156

HMNXSV003031997

Hs.128490.0.S1_3p_at

Hs.16648.0.A1_3p_at

ILMN_1744267

ILMN_1796669

ILMN_1808548

ILMN_1809193

L76517_at

L76528_s_at

TC14000439.hg

TC14001762.hg

U40380_at

g7549812_3p_a_at

g7549814_3p_a_at

Participates

as a member of

Azurophil granule membrane proteins [plasma membrane] (Homo sapiens)

as a component of

PSEN1 [plasma membrane] (Homo sapiens)

Other forms of this molecule

PSEN1(1-467) [plasma membrane]

PSEN1(299-467) [azurophil granule membrane]

PSEN1(1-467) [azurophil granule membrane]

PSEN1(1-298) [azurophil granule membrane]

PSEN1(1-298) [plasma membrane]

Inferred To

psenA [plasma membrane] (Dictyostelium discoideum)

psen1 [plasma membrane] (Danio rerio)

psen1 [plasma membrane] (Xenopus tropicalis)

psenB [plasma membrane] (Dictyostelium discoideum)

PSEN1 [plasma membrane] (Bos taurus)

PSEN1 [plasma membrane] (Canis familiaris)

PSEN1 [plasma membrane] (Gallus gallus)

PSEN1 [plasma membrane] (Sus scrofa)

Homologues of PSEN1(299-467) [plasma membrane] (Dictyostelium discoideum)

Psen1 [plasma membrane] (Rattus norvegicus)

Psen1(299-467) [plasma membrane] (Mus musculus)

Cross References

RefSeq

XP_005267921.1, NP_000012.1, NP_015557.2, XP_011535273.1, XP_005267923.1, XP_011535274.1, XP_011535275.1, XP_011535276.1

Guide to Pharmacology - Targets

2402

OpenTargets

ENSG00000080815

ZINC - Substances

PSN1_HUMAN

ZINC target

P49768

PRO

P49768

PDB

6LR4, 7D8X, 8K8E, 5FN3, 5FN4, 8OQY, 4UIS, 8OQZ, 2KR6, 5A63, 7C9I, 6LQG, 5FN5, 6IDF, 5FN2, 8IM7, 7Y5T, 6IYC

GeneCards

P49768

HPA

ENSG00000080815-PSEN1

Ensembl

ENSP00000452242, ENST00000700306, ENSP00000451915, ENST00000556951, ENST00000700269, ENST00000394164, ENSP00000514904, ENSP00000514966, ENSP00000377719, ENSP00000326366, ENST00000700321, ENST00000700313, ENSP00000450845, ENSP00000514950, ENSP00000514968, ENSP00000450551, ENST00000324501, ENST00000394157, ENST00000700268, ENST00000700265, ENSP00000514905, ENSP00000514944, ENSP00000514940, ENST00000700378, ENST00000553855, ENST00000700469, ENSP00000514948, ENSP00000514970, ENSP00000514903, ENST00000700267, ENST00000700323, ENSP00000515002, ENST00000700322, ENST00000700317, ENSP00000377712, ENSG00000080815, ENST00000553599, ENST00000700436, ENST00000700273, ENSP00000514933, ENST00000557511, ENST00000357710, ENSP00000350342, ENST00000700375, ENSP00000514951, ENSP00000452477, ENST00000700324, ENSP00000451429, ENSP00000514901, ENST00000700389, ENSP00000514908, ENST00000555386, ENST00000554131, ENSP00000514987, ENSP00000514949

Pharos - Targets

P49768

ZINC - Predictions - Purchasable

PSN1_HUMAN

Orphanet

15160

HMDB Protein

HMDBP07957

Interactors (12)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P05067-4 APP	2	APP (535-695) [cytosol] (R-HSA-9839084) APP [mitochondrial inner membrane] (R-HSA-9839060)	0.702	4
UniProt:Q02410 APBA1	1	APBA1 [cytosol] (R-HSA-5336459)	0.697	4
UniProt:P56817 BACE1	8	BACE1 [endoplasmic reticulum lumen] (R-HSA-6783326) 7K-BACE1 [endoplasmic reticulum lumen] (R-HSA-5693006) BACE1(22-45) [Golgi-associated vesicle lumen] (R-HSA-5693069) 7K-BACE1 [Golgi-associated vesicle lumen] (R-HSA-5693095) 7K-BACE1(46-501) [Golgi-associated vesicle lumen] (R-HSA-5693106) BACE1(46-501) [Golgi-associated vesicle lumen] (R-HSA-5693105) BACE1(46-501) [plasma membrane] (R-HSA-5692933) BACE1 [endosome membrane] (R-HSA-5692942)	0.639	6
UniProt:P05067 APP	20	APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-687) [extracellular region] (R-HSA-9010033) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(18-770) [endosome lumen] (R-HSA-5229077) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP [endoplasmic reticulum lumen] (R-HSA-8956696) APP(672-711) [extracellular region] (R-HSA-976740) APP(672-711) [cytosol] (R-HSA-877188) APP(672-713) [extracellular region] (R-HSA-879340)	0.632	6
UniProt:Q9NZC2 TREM2	1	TREM2 [plasma membrane] (R-HSA-197664)	0.599	5
UniProt:Q9BQ95 ECSIT	2	ECSIT [cytosol] (R-HSA-168064) ECSIT [mitochondrial inner membrane] (R-HSA-5689047)	0.582	4
UniProt:P12830 CDH1	8	CDH1(732-882) [plasma membrane] (R-HSA-3827997) CDH1(155-700) [plasma membrane] (R-HSA-2534244) CDH1(701-882) [extracellular region] (R-HSA-2534158) Ub-K,p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8877002) p-Y753,Y754-CDH1(155-882) [plasma membrane] (R-HSA-8876938) CDH1(155-750) [plasma membrane] (R-HSA-202940) CDH1(751-882) [plasma membrane] (R-HSA-202929) CDH1(155-882) [plasma membrane] (R-HSA-198003)	0.564	2
UniProt:P21333 FLNA	3	FLNA [extracellular region] (R-HSA-350712) p-S2152-FLNA [cytosol] (R-HSA-5669246) FLNA [cytosol] (R-HSA-210019)	0.508	2
UniProt:O75369 FLNB	1	FLNB [cytosol] (R-HSA-354163)	0.508	2
UniProt:P13569 CFTR	17	PolyUb-CFTR [clathrin-coated endocytic vesicle membrane] (R-HSA-8869104) PolyUb-CFTR [plasma membrane] (R-HSA-8867595) CFTR [lysosomal membrane] (R-HSA-5627279) CFTR [Golgi-associated vesicle membrane] (R-HSA-5627079) CFTR [endosome membrane] (R-HSA-6782965) PolyUb-CFTR [endosome membrane] (R-HSA-6782976) CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866834) ub-CFTR F508del [cytosol] (R-HSA-8866838) ub-CFTR F508del [endoplasmic reticulum membrane] (R-HSA-8866842) CFTR G542* [plasma membrane] (R-HSA-5678986) CFTR G551D [plasma membrane] (R-HSA-5678977) CFTR W1282* [plasma membrane] (R-HSA-5678976) CFTR F508del [plasma membrane] (R-HSA-5678978) CFTR N1303K [plasma membrane] (R-HSA-5678983) CFTR [plasma membrane] (R-HSA-383188) CFTR [endoplasmic reticulum membrane] (R-HSA-8866837) misfolded CFTR [endoplasmic reticulum membrane] (R-HSA-8868730)	0.483	5
UniProt:P63208 SKP1	2	SKP1 [nucleoplasm] (R-HSA-187538) SKP1 [cytosol] (R-HSA-174150)	0.462	3
UniProt:Q15392 DHCR24	1	DHCR24 [endoplasmic reticulum membrane] (R-HSA-196414)	0.462	3