Gene: ENSG00000080815 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000080815
Transcript Identifier
ENST00000324501
Gene Type
Coding gene
Location
14 : 73148020-73219289 : positive

Family Information

Homologous gene family
HOM02SEM001514
(38 genes in 21 species)
specific family

Descriptions

gene_descr
presenilin 1

Identifiers

Type Value
pidENSP00000326366
HGNC9508
UniprotP49768
UniprotA0A024R6A3
RefSeq_mRNANM_000021.3
EMBLCHEMBL2473
EMBLAC004858
EMBLAF109907
EMBLAF416717
EMBLAJ008005
EMBLAK312531
EMBLBC011729
EMBLCH471061
EMBLD84149
EMBLL42110
EMBLL76517
EMBLL76519
EMBLL76520
EMBLL76521
EMBLL76522
EMBLL76523
EMBLL76524
EMBLL76525
EMBLL76526
EMBLL76527
EMBLL76528
EMBLU40379
EMBLU40380

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:2001234
IEA
Genome Projectnegative regulation of apoptotic signaling pathway
GO:2000059
IEA
Genome Projectnegative regulation of ubiquitin-dependent protein catabolic process
GO:1904797
IMP
Genome Projectnegative regulation of core promoter binding
GO:1904797
IMP
Gene Ontologynegative regulation of core promoter binding1
GO:1904646
IGI
Genome Projectcellular response to amyloid-beta
GO:1904646
IGI
Gene Ontologycellular response to amyloid-beta2
GO:0070588
IEA
Genome Projectcalcium ion transmembrane transport
GO:0060999
IMP
Genome Projectpositive regulation of dendritic spine development
GO:0060999
IMP
Gene Ontologypositive regulation of dendritic spine development3
GO:0060828
ISS
Genome Projectregulation of canonical Wnt signaling pathway
GO:0060828
ISS
Gene Ontologyregulation of canonical Wnt signaling pathway
GO:0060075
IEA
Genome Projectregulation of resting membrane potential
GO:0060070
IBA
Genome Projectcanonical Wnt signaling pathway
GO:0051966
IEA
Genome Projectregulation of synaptic transmission, glutamatergic
GO:0051563
IBA
Genome Projectsmooth endoplasmic reticulum calcium ion homeostasis
GO:0051444
IEA
Genome Projectnegative regulation of ubiquitin-protein transferase activity
GO:0051402
IEA
Genome Projectneuron apoptotic process
GO:0050852
IEA
Genome ProjectT cell receptor signaling pathway
GO:0050820
IEA
Genome Projectpositive regulation of coagulation
GO:0050771
IEA
Genome Projectnegative regulation of axonogenesis
GO:0050673
IEA
Genome Projectepithelial cell proliferation
GO:0050435
IBA
Genome Projectamyloid-beta metabolic process
GO:0048854
IEA
Genome Projectbrain morphogenesis
GO:0048705
IEA
Genome Projectskeletal system morphogenesis
GO:0048666
IEA
Genome Projectneuron development
GO:0048538
IEA
Genome Projectthymus development
GO:0048167
IEA
Genome Projectregulation of synaptic plasticity
GO:0045893
IMP
Genome Projectpositive regulation of transcription, DNA-templated
GO:0045893
IMP
Gene Ontologypositive regulation of transcription, DNA-templated4
GO:0043589
IEA
Genome Projectskin morphogenesis
GO:0043524
IEA
Genome Projectnegative regulation of neuron apoptotic process
GO:0043393
IEA
Genome Projectregulation of protein binding
GO:0043312
TAS
Genome Projectneutrophil degranulation
GO:0043312
TAS
Gene Ontologyneutrophil degranulation
GO:0043085
IDA
Genome Projectpositive regulation of catalytic activity
GO:0043085
IDA
Gene Ontologypositive regulation of catalytic activity5
GO:0043066
IDA, IMP
Genome Projectnegative regulation of apoptotic process
GO:0043066
IDA, IMP
Gene Ontologynegative regulation of apoptotic process1 6
GO:0043065
IEA
Genome Projectpositive regulation of apoptotic process
GO:0043011
IEA
Genome Projectmyeloid dendritic cell differentiation
GO:0042987
TAS
Genome Projectamyloid precursor protein catabolic process
GO:0042987
TAS
Gene Ontologyamyloid precursor protein catabolic process5
GO:0042982
IDA
Genome Projectamyloid precursor protein metabolic process
GO:0042982
IDA
Gene Ontologyamyloid precursor protein metabolic process7
GO:0042325
IDA
Genome Projectregulation of phosphorylation
GO:0042325
IDA
Gene Ontologyregulation of phosphorylation8
GO:0035556
IEA
Genome Projectintracellular signal transduction
GO:0034205
IMP
Genome Projectamyloid-beta formation
GO:0034205
IMP
Gene Ontologyamyloid-beta formation7
GO:0033160
IMP
Genome Projectpositive regulation of protein import into nucleus, translocation
GO:0033160
IMP
Gene Ontologypositive regulation of protein import into nucleus, translocation1
GO:0032469
IDA, IGI
Genome Projectendoplasmic reticulum calcium ion homeostasis
GO:0032469
IDA, IGI
Gene Ontologyendoplasmic reticulum calcium ion homeostasis9 10
GO:0032436
IEA
Genome Projectpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0030326
IEA
Genome Projectembryonic limb morphogenesis
GO:0021904
IEA
Genome Projectdorsal/ventral neural tube patterning
GO:0021870
IEA
Genome ProjectCajal-Retzius cell differentiation
GO:0021795
IEA
Genome Projectcerebral cortex cell migration
GO:0016485
IDA
Genome Projectprotein processing
GO:0016485
IDA
Gene Ontologyprotein processing5
GO:0016080
IEA
Genome Projectsynaptic vesicle targeting
GO:0015871
IEA
Genome Projectcholine transport
GO:0015813
IEA
Genome ProjectL-glutamate transmembrane transport
GO:0015031
IEA
Genome Projectprotein transport
GO:0009791
IEA
Genome Projectpost-embryonic development
GO:0007613
IEA
Genome Projectmemory
GO:0007613
IGI
Gene Ontologymemory11
GO:0007220
TAS
Genome ProjectNotch receptor processing
GO:0007220
TAS
Gene OntologyNotch receptor processing5
GO:0007219
IEA
Genome ProjectNotch signaling pathway
GO:0007175
IEA
Genome Projectnegative regulation of epidermal growth factor-activated receptor activity
GO:0006979
IEA
Genome Projectresponse to oxidative stress
GO:0006974
IEA
Genome Projectcellular response to DNA damage stimulus
GO:0006839
IEA
Genome Projectmitochondrial transport
GO:0006509
IDA
Genome Projectmembrane protein ectodomain proteolysis
GO:0006509
IDA
Gene Ontologymembrane protein ectodomain proteolysis5
GO:0006486
IEA
Genome Projectprotein glycosylation
GO:0003407
IEA
Genome Projectneural retina development
GO:0002286
IEA
Genome ProjectT cell activation involved in immune response
GO:0002265
IGI
Genome Projectastrocyte activation involved in immune response
GO:0002265
IGI
Gene Ontologyastrocyte activation involved in immune response2
GO:0002244
IEA
Genome Projecthematopoietic progenitor cell differentiation
GO:0001947
IEA
Genome Projectheart looping
GO:0001921
IEA
Genome Projectpositive regulation of receptor recycling
GO:0001764
IEA
Genome Projectneuron migration
GO:0001756
IEA
Genome Projectsomitogenesis
GO:0001708
IEA
Genome Projectcell fate specification
GO:0001568
IEA
Genome Projectblood vessel development
GO:0000186
IEA
Genome Projectactivation of MAPKK activity
GO:0000122
IMP
Genome Projectnegative regulation of transcription by RNA polymerase II
GO:0000122
IMP
Gene Ontologynegative regulation of transcription by RNA polymerase II1
GO:0000045
IEA
Genome Projectautophagosome assembly
GO:1905598
IGI
Gene Ontologynegative regulation of low-density lipoprotein receptor activity12
GO:1990535
IGI
Gene Ontologyneuron projection maintenance13
GO:1905908
IGI
Gene Ontologypositive regulation of amyloid fibril formation11
GO:0098609
IMP
Gene Ontologycell-cell adhesion14
GO:0090647
IGI
TAS
Gene Ontologymodulation of age-related behavioral decline11 13 15
GO:0050808
IGI
Gene Ontologysynapse organization15
GO:0048143
IGI
Gene Ontologyastrocyte activation13
GO:0042327
IGI
Gene Ontologypositive regulation of phosphorylation16
GO:0035333
TAS
Gene OntologyNotch receptor processing, ligand-dependent
GO:0032092
IGI
Gene Ontologypositive regulation of protein binding17
GO:0007611
IGI
TAS
Gene Ontologylearning or memory13 15 17
GO:0016048
IEA
PLAZA Integrative Orthologydetection of temperature stimulus WBGene00004769
GO:0017015
IEA
PLAZA Integrative Orthologyregulation of transforming growth factor beta receptor signaling pathway WBGene00004769
GO:0071363
IEA
PLAZA Integrative Orthologycellular response to growth factor stimulus WBGene00004769
GO:0019098
IEA
PLAZA Integrative Orthologyreproductive behavior WBGene00004769
GO:0008406
IEA
PLAZA Integrative Orthologygonad development WBGene00001985
GO:0071560
IEA
PLAZA Integrative Orthologycellular response to transforming growth factor beta stimulus WBGene00004769
GO:0040028
IEA
PLAZA Integrative Orthologyregulation of vulval development WBGene00001985
GO:0042127
IEA
PLAZA Integrative Orthologyregulation of cell proliferation WBGene00001985
GO:0000003
IEA
PLAZA Integrative Orthologyreproduction WBGene00004769
GO:0022414
IEA
PLAZA Integrative Orthologyreproductive process WBGene00004769
GO:0048569
IEA
PLAZA Integrative Orthologypost-embryonic animal organ development WBGene00004769
GO:0045137
IEA
PLAZA Integrative Orthologydevelopment of primary sexual characteristics WBGene00001985
GO:0009886
IEA
PLAZA Integrative Orthologypost-embryonic animal morphogenesis WBGene00004769
GO:0009582
IEA
PLAZA Integrative Orthologydetection of abiotic stimulus WBGene00004769
GO:0090287
IEA
PLAZA Integrative Orthologyregulation of cellular response to growth factor stimulus WBGene00004769
GO:0008593
IEA
PLAZA Integrative Orthologyregulation of Notch signaling pathway WBGene00004769
GO:0009266
IEA
PLAZA Integrative Orthologyresponse to temperature stimulus WBGene00004769
GO:0048608
IEA
PLAZA Integrative Orthologyreproductive structure development WBGene00001985
GO:0040025
IEA
PLAZA Integrative Orthologyvulval development WBGene00001985
GO:0048609
IEA
PLAZA Integrative Orthologymulticellular organismal reproductive process WBGene00004769
GO:0009581
IEA
PLAZA Integrative Orthologydetection of external stimulus WBGene00004769
GO:0071559
IEA
PLAZA Integrative Orthologyresponse to transforming growth factor beta WBGene00004769
GO:0048580
IEA
PLAZA Integrative Orthologyregulation of post-embryonic development WBGene00001985
GO:0010453
IEA
PLAZA Integrative Orthologyregulation of cell fate commitment WBGene00001985
GO:0061062
IEA
PLAZA Integrative Orthologyregulation of nematode larval development WBGene00001985
GO:0018991
IEA
PLAZA Integrative Orthologyoviposition WBGene00004769
GO:0051606
IEA
PLAZA Integrative Orthologydetection of stimulus WBGene00004769
GO:0045176
IEA
PLAZA Integrative Orthologyapical protein localization WBGene00004769
GO:0048563
IEA
PLAZA Integrative Orthologypost-embryonic animal organ morphogenesis WBGene00004769
GO:0002119
IEA
PLAZA Integrative Orthologynematode larval development WBGene00001985
GO:0009605
IEA
PLAZA Integrative Orthologyresponse to external stimulus WBGene00004769
GO:0007548
IEA
PLAZA Integrative Orthologysex differentiation WBGene00001985
GO:0032504
IEA
PLAZA Integrative Orthologymulticellular organism reproduction WBGene00004769
GO:0009628
IEA
PLAZA Integrative Orthologyresponse to abiotic stimulus WBGene00004769
GO:0003006
IEA
PLAZA Integrative Orthologydevelopmental process involved in reproduction WBGene00001985
GO:0061458
IEA
PLAZA Integrative Orthologyreproductive system development WBGene00001985
GO:0090092
IEA
PLAZA Integrative Orthologyregulation of transmembrane receptor protein serine/threonine kinase signaling pathway WBGene00004769
GO:0045747
IEA
PLAZA Integrative Orthologypositive regulation of Notch signaling pathway WBGene00004769
GO:0002164
IEA
PLAZA Integrative Orthologylarval development WBGene00001985
GO:0007178
IEA
PLAZA Integrative Orthologytransmembrane receptor protein serine/threonine kinase signaling pathway WBGene00004769
GO:1903844
IEA
PLAZA Integrative Orthologyregulation of cellular response to transforming growth factor beta stimulus WBGene00004769
GO:0007179
IEA
PLAZA Integrative Orthologytransforming growth factor beta receptor signaling pathway WBGene00004769
GO:0008284
IEA
PLAZA Integrative Orthologypositive regulation of cell proliferation WBGene00001985
GO:0070848
IEA
PLAZA Integrative Orthologyresponse to growth factor WBGene00004769
GO:0042659
IEA
PLAZA Integrative Orthologyregulation of cell fate specification WBGene00001985

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0045296
IBA
Genome Projectcadherin binding
GO:0042500
IDA
Genome Projectaspartic endopeptidase activity, intramembrane cleaving
GO:0042500
IDA
Gene Ontologyaspartic endopeptidase activity, intramembrane cleaving7
GO:0030165
IPI
Genome ProjectPDZ domain binding
GO:0030165
IPI
Gene OntologyPDZ domain binding18
GO:0008013
IPI
Genome Projectbeta-catenin binding
GO:0008013
IPI
Gene Ontologybeta-catenin binding19 20
GO:0005515
IPI
Genome Projectprotein binding
GO:0005515
IPI
Gene Ontologyprotein binding1 8 21 22 23 24 25 26 27 28 29 30
GO:0005262
IMP
Genome Projectcalcium channel activity
GO:0005262
IMP
Gene Ontologycalcium channel activity9
GO:0004175
IDA
Genome Projectendopeptidase activity
GO:0004175
IDA
Gene Ontologyendopeptidase activity31
GO:0004190
TAS, NAS
Gene Ontologyaspartic-type endopeptidase activity32

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005790
IDA
Genome Projectsmooth endoplasmic reticulum
GO:0005790
IDA
Gene Ontologysmooth endoplasmic reticulum1 19
GO:0098793
IEA
Genome Projectpresynapse
GO:0070765
IDA
Genome Projectgamma-secretase complex
GO:0070765
IDA
Gene Ontologygamma-secretase complex7 33
GO:0048471
IBA
Genome Projectperinuclear region of cytoplasm
GO:0045121
IDA
Genome Projectmembrane raft
GO:0045121
IDA
Gene Ontologymembrane raft34
GO:0043198
IEA
Genome Projectdendritic shaft
GO:0043025
IBA
Genome Projectneuronal cell body
GO:0035577
TAS
Genome Projectazurophil granule membrane
GO:0035577
TAS
Gene Ontologyazurophil granule membrane
GO:0035253
IEA
Genome Projectciliary rootlet
GO:0031965
IDA
Genome Projectnuclear membrane
GO:0031965
IDA
Gene Ontologynuclear membrane35
GO:0031594
IEA
Genome Projectneuromuscular junction
GO:0030426
IEA
Genome Projectgrowth cone
GO:0030424
IEA
Genome Projectaxon
GO:0030054
IDA
Genome Projectcell junction
GO:0030054
IDA
Gene Ontologycell junction
GO:0030018
IBA
Genome ProjectZ disc
GO:0016235
IDA
Genome Projectaggresome
GO:0016235
IDA
Gene Ontologyaggresome29
GO:0016021
IDA
TAS
Genome Projectintegral component of membrane
GO:0016021
IDA
TAS
Gene Ontologyintegral component of membrane7 36
GO:0016020
IDA
Genome Projectmembrane
GO:0016020
IDA
Gene Ontologymembrane37
GO:0009986
IEA
Genome Projectcell surface
GO:0005938
IEA
Genome Projectcell cortex
GO:0005887
IDA
Genome Projectintegral component of plasma membrane
GO:0005887
IDA
Gene Ontologyintegral component of plasma membrane5
GO:0005886
IDA
TAS
Genome Projectplasma membrane
GO:0005886
IDA
TAS
Gene Ontologyplasma membrane29
GO:0005813
IDA
Genome Projectcentrosome
GO:0005813
IDA
Gene Ontologycentrosome35
GO:0005794
IDA
Genome ProjectGolgi apparatus
GO:0005794
IDA
Gene OntologyGolgi apparatus5 19 38
GO:0005791
IDA
Genome Projectrough endoplasmic reticulum
GO:0005791
IDA
Gene Ontologyrough endoplasmic reticulum19
GO:0005789
IEA
Genome Projectendoplasmic reticulum membrane
GO:0005783
IDA
Genome Projectendoplasmic reticulum
GO:0005783
IDA
Gene Ontologyendoplasmic reticulum5 38
GO:0005743
IEA
Genome Projectmitochondrial inner membrane
GO:0005739
IDA
Genome Projectmitochondrion
GO:0005739
IDA
Gene Ontologymitochondrion39
GO:0005640
IDA
Genome Projectnuclear outer membrane
GO:0005640
IDA
Gene Ontologynuclear outer membrane38
GO:0005634
IDA, IMP
Genome Projectnucleus
GO:0005634
IDA, IMP
Gene Ontologynucleus1
GO:0000776
IDA
Genome Projectkinetochore
GO:0000776
IDA
Gene Ontologykinetochore35
GO:0000139
IEA
Genome ProjectGolgi membrane
GO:0032991
IMP
Gene Ontologyprotein-containing complex1
GO:0005798
IEA
PLAZA Integrative OrthologyGolgi-associated vesicle AT1G08700

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
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InterPro Description
IPR001108Peptidase A22A, presenilin
IPR002031Peptidase A22A, presenilin 1
IPR006639Presenilin/signal peptide peptidase

No MapMan annotations defined for this gene.
KeggID Description
K04505PSEN1, PS1; presenilin 1 [EC:3.4.23.-]
No chloroplast target sequence found.