Medical Subject Headings / 医学主题词表

Last uploaded: September 7, 2023
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Preferred Name

Presenilin-1
Synonyms

Presenilin 1
Definitions

Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
ID

http://purl.bioontology.org/ontology/MESH/D053764
altLabel

Presenilin 1

S182 Protein
AQL

AD AE AG AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR
cui

C0299212
DC

1
definition

Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
DX

20070101
HN

2007
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000032

http://purl.bioontology.org/ontology/MESH/Q000138

http://purl.bioontology.org/ontology/MESH/Q000737

http://purl.bioontology.org/ontology/MESH/Q000493

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000506

http://purl.bioontology.org/ontology/MESH/Q000819

http://purl.bioontology.org/ontology/MESH/Q000187

http://purl.bioontology.org/ontology/MESH/Q000096

http://purl.bioontology.org/ontology/MESH/Q000037

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000592

http://purl.bioontology.org/ontology/MESH/Q000528

http://purl.bioontology.org/ontology/MESH/Q000008

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000648

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000633

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000009

http://purl.bioontology.org/ontology/MESH/Q000302

http://purl.bioontology.org/ontology/MESH/Q000502

http://purl.bioontology.org/ontology/MESH/Q000494

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000600

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000172

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000627
Inverse of RB

0
Machine permutation

2007; was indexed under MEMBRANE PROTEINS 1995-2006
Mapped from

http://purl.bioontology.org/ontology/MESH/C543887

http://purl.bioontology.org/ontology/MESH/C000605934

http://purl.bioontology.org/ontology/MESH/C580804

http://purl.bioontology.org/ontology/MESH/C508853

http://purl.bioontology.org/ontology/MESH/C000607793
MDA

20060705
MMR

20100625
MN

D12.776.543.696.500
notation

D053764
prefLabel

Presenilin-1
TERMUI

T418310

T278676

T408355
TH

NLM (2007)
tui

T116

T123
subClassOf

http://purl.bioontology.org/ontology/MESH/D053763
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_118099 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/OMIM/104311 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95117 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/PR_000013344 Protein Ontology / 蛋白质本体 LOOM