C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: presenilin 1
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENSMUST00000041806 Psen1-201 ENSMUSG00000019969 10090 + 12:83688203-83734113 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000041806
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000041806 3.246±1.15 5.380±1.65 4.223±0.00 4.209±0.91 5.022±1.16 12.472±2.44 2.224±0.23 3.337±0.22 2.169±0.68 4.582±0.51 2.211±0.36 6.973±3.13 12.364±5.66 21.665±4.47

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008P0 CIL_0008P0_0002 VISTA 12:83418739-84022790
CIL_0003OW CIL_0003OW_0002 CGP 12:83631236-83735199
CIL_0001TQ CIL_0001TQ_0002 CGP 12:83688203-83792382

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000045 IMP autophagic vacuole assembly
GO:0000122 IMP negative regulation of transcription from RNA polymerase II promoter
GO:0000186 IMP activation of MAPKK activity
GO:0001568 IMP blood vessel development
GO:0001708 IGI cell fate specification
GO:0001756 IGI somitogenesis
GO:0001764 IMP neuron migration
GO:0001921 IMP positive regulation of receptor recycling
GO:0001933 IGI negative regulation of protein phosphorylation
GO:0001934 IMP positive regulation of protein phosphorylation
GO:0001947 IGI heart looping
GO:0002244 IGI hematopoietic progenitor cell differentiation
GO:0002286 IGI T cell activation involved in immune response
GO:0002573 IGI myeloid leukocyte differentiation
GO:0004175 IMP endopeptidase activity
GO:0004190 IEA aspartic-type endopeptidase activity
GO:0005515 IPI protein binding
GO:0005622 IDA intracellular
GO:0005634 IDA nucleus
GO:0005739 ISS mitochondrion
GO:0005743 IBA mitochondrial inner membrane
GO:0005765 IBA lysosomal membrane
GO:0005783 ISS endoplasmic reticulum
GO:0005794 ISS Golgi apparatus
GO:0005886 IDA plasma membrane
GO:0005887 ISS integral component of plasma membrane
GO:0005938 IBA cell cortex
GO:0006469 IMP negative regulation of protein kinase activity
GO:0006486 IMP protein glycosylation
GO:0006509 ISS membrane protein ectodomain proteolysis
GO:0006816 IBA calcium ion transport
GO:0006839 IMP mitochondrial transport
GO:0006874 IMP cellular calcium ion homeostasis
GO:0006914 IMP autophagy
GO:0006974 IMP cellular response to DNA damage stimulus
GO:0006979 IMP response to oxidative stress
GO:0007175 IMP negative regulation of epidermal growth factor-activated receptor activity
GO:0007176 IGI regulation of epidermal growth factor-activated receptor activity
GO:0007219 IMP Notch signaling pathway
GO:0007220 IMP Notch receptor processing
GO:0007420 IMP brain development
GO:0007507 IMP heart development
GO:0007611 IGI learning or memory
GO:0007613 IMP memory
GO:0008013 IBA beta-catenin binding
GO:0009791 IMP post-embryonic development
GO:0009986 IBA cell surface
GO:0015031 IGI protein transport
GO:0015813 IMP L-glutamate transport
GO:0015871 IMP choline transport
GO:0016020 IDA membrane
GO:0016080 IMP synaptic vesicle targeting
GO:0016324 IBA apical plasma membrane
GO:0016337 ISO single organismal cell-cell adhesion
GO:0016485 ISS protein processing
GO:0021795 IMP cerebral cortex cell migration
GO:0021870 IMP Cajal-Retzius cell differentiation
GO:0021904 IGI dorsal/ventral neural tube patterning
GO:0021987 IMP cerebral cortex development
GO:0022008 IMP neurogenesis
GO:0030018 IBA Z disc
GO:0030182 IMP neuron differentiation
GO:0030326 IGI embryonic limb morphogenesis
GO:0030424 IDA axon
GO:0030425 IDA dendrite
GO:0030426 IDA growth cone
GO:0030900 IGI forebrain development
GO:0031410 IDA cytoplasmic vesicle
GO:0031594 IBA neuromuscular junction
GO:0032436 IMP positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 IMP endoplasmic reticulum calcium ion homeostasis
GO:0034205 IMP beta-amyloid formation
GO:0035253 IDA ciliary rootlet
GO:0035282 IMP segmentation
GO:0035556 IEA intracellular signal transduction
GO:0040011 IGI locomotion
GO:0042987 IMP amyloid precursor protein catabolic process
GO:0043011 IMP myeloid dendritic cell differentiation
GO:0043025 IDA neuronal cell body
GO:0043065 IGI positive regulation of apoptotic process
GO:0043066 IDA negative regulation of apoptotic process
GO:0043085 ISS positive regulation of catalytic activity
GO:0043198 IDA dendritic shaft
GO:0043227 IDA membrane-bounded organelle
GO:0043393 IGI regulation of protein binding
GO:0043406 IMP positive regulation of MAP kinase activity
GO:0043589 IMP skin morphogenesis
GO:0044267 IMP cellular protein metabolic process
GO:0045121 IBA membrane raft
GO:0045296 IPI cadherin binding
GO:0045860 IDA positive regulation of protein kinase activity
GO:0048167 IMP regulation of synaptic plasticity
GO:0048471 IBA perinuclear region of cytoplasm
GO:0048538 IGI thymus development
GO:0048666 IMP neuron development
GO:0048705 IMP skeletal system morphogenesis
GO:0048854 IGI brain morphogenesis
GO:0050435 IMP beta-amyloid metabolic process
GO:0050673 IGI epithelial cell proliferation
GO:0050771 IMP negative regulation of axonogenesis
GO:0050820 IMP positive regulation of coagulation
GO:0050852 IGI T cell receptor signaling pathway
GO:0051402 IGI neuron apoptotic process
GO:0051444 IMP negative regulation of ubiquitin-protein transferase activity
GO:0051563 IGI smooth endoplasmic reticulum calcium ion homeostasis
GO:0051604 IGI protein maturation
GO:0051966 IMP regulation of synaptic transmission, glutamatergic
GO:0060070 IBA canonical Wnt signaling pathway
GO:0060075 IMP regulation of resting membrane potential
GO:2000059 IMP negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234 IGI negative regulation of apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENST00000324501 PSEN1-001 protein_coding Homo_sapiens 0 1711
ENST00000357710 PSEN1-002 protein_coding Homo_sapiens 0 1672
ENST00000394164 PSEN1-003 protein_coding Homo_sapiens 0 1672
ENST00000406768 PSEN1-005 protein_coding Homo_sapiens 0 1548
ENST00000553855 PSEN1-024 nonsense_mediated_decay Homo_sapiens 0 1140
ENST00000554995 PSEN1-023 retained_intron Homo_sapiens 0 276
ENST00000555386 PSEN1-006 nonsense_mediated_decay Homo_sapiens 0 1101
ENST00000555867 PSEN1-022 retained_intron Homo_sapiens 0 597
ENST00000557511 PSEN1-027 protein_coding Homo_sapiens 0 1134

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