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
HOM03P001593
(48 genes in 34 species)
specific family
Orthologous gene family
ORTHO03P001201
(40 genes in 33 species)
specific family

Descriptions

gene_descr
presenilin 1

Identifiers

Type Value
pidENSP00000326366
HGNC9508
UniprotP49768
UniprotA0A024R6A3

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000045
IEA
Genome Projectautophagosome assembly
GO:0000122
IEA
Genome Projectnegative regulation of transcription from RNA polymerase II promoter
GO:0000186
IEA
Genome Projectactivation of MAPKK activity
GO:0001568
IEA
Genome Projectblood vessel development
GO:0001708
IEA
Genome Projectcell fate specification
GO:0001756
IEA
Genome Projectsomitogenesis
GO:0001764
IEA
Genome Projectneuron migration
GO:0001921
IEA
Genome Projectpositive regulation of receptor recycling
GO:0001933
IEA
Genome Projectnegative regulation of protein phosphorylation
GO:0001934
IEA
Genome Projectpositive regulation of protein phosphorylation
GO:0001947
IEA
Genome Projectheart looping
GO:0002244
IEA
Genome Projecthematopoietic progenitor cell differentiation
GO:0002286
IEA
Genome ProjectT cell activation involved in immune response
GO:0002573
IEA
Genome Projectmyeloid leukocyte differentiation
GO:0003407
IEA
Genome Projectneural retina development
GO:0006469
IEA
Genome Projectnegative regulation of protein kinase activity
GO:0006486
IEA
Genome Projectprotein glycosylation
GO:0006508
IEA
Genome Projectproteolysis
GO:0006839
IEA
Genome Projectmitochondrial transport
GO:0006874
IEA
Genome Projectcellular calcium ion homeostasis
GO:0006914
IEA
Genome Projectautophagy
GO:0006974
IEA
Genome Projectcellular response to DNA damage stimulus
GO:0006979
IEA
Genome Projectresponse to oxidative stress
GO:0007175
IEA
Genome Projectnegative regulation of epidermal growth factor-activated receptor activity
GO:0007176
IEA
Genome Projectregulation of epidermal growth factor-activated receptor activity
GO:0007219
IEA
Genome ProjectNotch signaling pathway
GO:0007220
TAS, IEA
Genome ProjectNotch receptor processing
GO:0007420
IEA
Genome Projectbrain development
GO:0007507
IEA
Genome Projectheart development
GO:0007611
IEA
Genome Projectlearning or memory
GO:0007613
IEA
Genome Projectmemory
GO:0009791
IEA
Genome Projectpost-embryonic development
GO:0015031
IEA
Genome Projectprotein transport
GO:0015813
IEA
Genome ProjectL-glutamate transport
GO:0015871
IEA
Genome Projectcholine transport
GO:0016080
IEA
Genome Projectsynaptic vesicle targeting
GO:0021795
IEA
Genome Projectcerebral cortex cell migration
GO:0021870
IEA
Genome ProjectCajal-Retzius cell differentiation
GO:0021904
IEA
Genome Projectdorsal/ventral neural tube patterning
GO:0021987
IEA
Genome Projectcerebral cortex development
GO:0022008
IEA
Genome Projectneurogenesis
GO:0030182
IEA
Genome Projectneuron differentiation
GO:0030326
IEA
Genome Projectembryonic limb morphogenesis
GO:0030900
IEA
Genome Projectforebrain development
GO:0032436
IEA
Genome Projectpositive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0034205
IEA
Genome Projectbeta-amyloid formation
GO:0035282
IEA
Genome Projectsegmentation
GO:0035556
IEA
Genome Projectintracellular signal transduction
GO:0040011
IEA
Genome Projectlocomotion
GO:0042987
TAS, IEA
Genome Projectamyloid precursor protein catabolic process
GO:0043011
IEA
Genome Projectmyeloid dendritic cell differentiation
GO:0043065
IEA
Genome Projectpositive regulation of apoptotic process
GO:0043066
IDA
IEA
Genome Projectnegative regulation of apoptotic process
GO:0043393
IEA
Genome Projectregulation of protein binding
GO:0043406
IEA
Genome Projectpositive regulation of MAP kinase activity
GO:0043524
IEA
Genome Projectnegative regulation of neuron apoptotic process
GO:0043589
IEA
Genome Projectskin morphogenesis
GO:0044267
IEA
Genome Projectcellular protein metabolic process
GO:0045860
IEA
Genome Projectpositive regulation of protein kinase activity
GO:0048167
IEA
Genome Projectregulation of synaptic plasticity
GO:0048538
IEA
Genome Projectthymus development
GO:0048666
IEA
Genome Projectneuron development
GO:0048705
IEA
Genome Projectskeletal system morphogenesis
GO:0048854
IEA
Genome Projectbrain morphogenesis
GO:0050435
IBA
IEA
Genome Projectbeta-amyloid metabolic process
GO:0050673
IEA
Genome Projectepithelial cell proliferation
GO:0050771
IEA
Genome Projectnegative regulation of axonogenesis
GO:0050820
IEA
Genome Projectpositive regulation of coagulation
GO:0050852
IEA
Genome ProjectT cell receptor signaling pathway
GO:0051402
IEA
Genome Projectneuron apoptotic process
GO:0051444
IEA
Genome Projectnegative regulation of ubiquitin-protein transferase activity
GO:0051563
IBA
IEA
Genome Projectsmooth endoplasmic reticulum calcium ion homeostasis
GO:0051604
IEA
Genome Projectprotein maturation
GO:0051966
IEA
Genome Projectregulation of synaptic transmission, glutamatergic
GO:0060075
IEA
Genome Projectregulation of resting membrane potential
GO:2000059
IEA
Genome Projectnegative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234
IEA
Genome Projectnegative regulation of apoptotic signaling pathway
GO:0006509
IDA
Genome Projectmembrane protein ectodomain proteolysis
GO:0006915
IEA
Genome Projectapoptotic process
GO:0007155
IEA
Genome Projectcell adhesion
GO:0016337
IMP
Genome Projectsingle organismal cell-cell adhesion
GO:0016485
IDA
Genome Projectprotein processing
GO:0022617
TAS
Genome Projectextracellular matrix disassembly
GO:0030198
TAS
Genome Projectextracellular matrix organization
GO:0032469
IDA, IGI
Genome Projectendoplasmic reticulum calcium ion homeostasis
GO:0042325
IDA
Genome Projectregulation of phosphorylation
GO:0043085
IDA
Genome Projectpositive regulation of catalytic activity
GO:0045893
IMP
Genome Projectpositive regulation of transcription, DNA-templated
GO:0060070
IBA
Genome Projectcanonical Wnt signaling pathway
GO:0060999
IMP
Genome Projectpositive regulation of dendritic spine development
GO:0070588
IMP
Genome Projectcalcium ion transmembrane transport

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0004175
IDA
IEA
Genome Projectendopeptidase activity
GO:0004190
IEA
Genome Projectaspartic-type endopeptidase activity
GO:0008233
IEA
Genome Projectpeptidase activity
GO:0016787
IEA
Genome Projecthydrolase activity
GO:0045296
IBA
IEA
Genome Projectcadherin binding
GO:0005262
IMP
Genome Projectcalcium channel activity
GO:0005515
IPI
Genome Projectprotein binding
GO:0008013
IPI
Genome Projectbeta-catenin binding
GO:0030165
IPI
Genome ProjectPDZ domain binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000139
IEA
Genome ProjectGolgi membrane
GO:0005622
IEA
Genome Projectintracellular
GO:0005634
IBA
IEA
Genome Projectnucleus
GO:0005743
IBA
IEA
Genome Projectmitochondrial inner membrane
GO:0005765
IBA
IEA
Genome Projectlysosomal membrane
GO:0005783
IDA
IEA
Genome Projectendoplasmic reticulum
GO:0005789
IEA
Genome Projectendoplasmic reticulum membrane
GO:0005790
IDA
IEA
Genome Projectsmooth endoplasmic reticulum
GO:0005794
IDA
IEA
Genome ProjectGolgi apparatus
GO:0005886
IDA
IEA
Genome Projectplasma membrane
GO:0009986
IBA
IEA
Genome Projectcell surface
GO:0016020
IDA
TAS, IEA
Genome Projectmembrane
GO:0016021
TAS, IEA
Genome Projectintegral component of membrane
GO:0030424
IBA
IEA
Genome Projectaxon
GO:0030425
IEA
Genome Projectdendrite
GO:0030426
IBA
IEA
Genome Projectgrowth cone
GO:0031410
IEA
Genome Projectcytoplasmic vesicle
GO:0031594
IBA
IEA
Genome Projectneuromuscular junction
GO:0035253
IBA
IEA
Genome Projectciliary rootlet
GO:0043005
IEA
Genome Projectneuron projection
GO:0043025
IBA
IEA
Genome Projectneuronal cell body
GO:0043198
IBA
IEA
Genome Projectdendritic shaft
GO:0043227
IEA
Genome Projectmembrane-bounded organelle
GO:0043234
IEA
Genome Projectprotein complex
GO:0045121
IDA
IEA
Genome Projectmembrane raft
GO:0000776
IDA
Genome Projectkinetochore
GO:0005640
IDA
Genome Projectnuclear outer membrane
GO:0005739
IDA
Genome Projectmitochondrion
GO:0005791
IDA
Genome Projectrough endoplasmic reticulum
GO:0005813
IDA
Genome Projectcentrosome
GO:0005887
IDA
Genome Projectintegral component of plasma membrane
GO:0005938
IBA
Genome Projectcell cortex
GO:0016235
IDA
Genome Projectaggresome
GO:0016324
IBA
Genome Projectapical plasma membrane
GO:0030018
IBA
Genome ProjectZ disc
GO:0031965
IDA
Genome Projectnuclear membrane
GO:0048471
IBA
Genome Projectperinuclear region of cytoplasm
GO:0070765
IDA
Genome Projectgamma-secretase complex

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.