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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: presenilin 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000080815 PSEN1 9606 + 14:73136418-73223691 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000324501 PSEN1-001 73136447-73223691 protein_coding
  ENST00000357710 PSEN1-002 73136447-73220401 protein_coding
  ENST00000394157 PSEN1-004 73136447-73174204 protein_coding
  ENST00000394164 PSEN1-003 73136817-73220401 protein_coding
  ENST00000406768 PSEN1-005 73167829-73220401 protein_coding
  ENST00000553447 PSEN1-019 73136477-73170884 processed_transcript
  ENST00000553599 PSEN1-012 73136445-73170996 protein_coding
  ENST00000553719 PSEN1-016 73136444-73173680 protein_coding
  ENST00000553855 PSEN1-024 73148020-73217158 nonsense_mediated_decay
  ENST00000554131 PSEN1-020 73136496-73171036 protein_coding
  ENST00000554995 PSEN1-023 73197710-73211853 retained_intron
  ENST00000555254 PSEN1-021 73136456-73173694 protein_coding
  ENST00000555386 PSEN1-006 73148020-73219289 nonsense_mediated_decay
  ENST00000555867 PSEN1-022 73206153-73219396 retained_intron
  ENST00000556011 PSEN1-026 73136447-73160049 protein_coding
  ENST00000556066 PSEN1-011 73147492-73170895 protein_coding
  ENST00000556533 PSEN1-009 73136435-73170998 protein_coding
  ENST00000556864 PSEN1-007 73136435-73170912 protein_coding
  ENST00000556951 PSEN1-014 73136436-73170994 protein_coding
  ENST00000557037 PSEN1-008 73136541-73170909 protein_coding
  ENST00000557293 PSEN1-015 73136437-73171007 protein_coding
  ENST00000557356 PSEN1-013 73136418-73173644 protein_coding
  ENST00000557511 PSEN1-027 73148020-73219289 protein_coding
  ENST00000559361 PSEN1-029 73136518-73173707 nonsense_mediated_decay
  ENST00000560005 PSEN1-028 73136451-73171050 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000324501ENST00000357710ENST00000394164ENST00000557511
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000324501 4.677±0.00 3.123±0.00 N/A 4.981±1.02 2.551±1.12 3.097±0.00 1.272±0.52 3.925±0.00 0.995±0.63 3.005±0.25 1.247±0.00 2.578±1.70 3.265±0.84 3.032±0.01
ENST00000357710 13.539±0.00 7.133±0.00 5.049±0.00 15.613±1.84 11.980±1.00 10.431±0.19 3.237±1.54 11.163±4.82 5.922±0.83 7.403±0.64 5.211±1.58 11.314±2.14 20.410±2.86 23.246±3.23
ENST00000394164 N/A 2.863±0.00 N/A N/A N/A N/A N/A N/A N/A 2.383±0.00 N/A N/A N/A N/A
ENST00000557511 N/A N/A N/A N/A N/A N/A N/A 4.020±0.00 N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008P0 CIL_0008P0_0001 VISTA 14:72878760-73482269
CIL_0003OW CIL_0003OW_0001 CGP 14:73058436-73223691
CIL_0001TQ CIL_0001TQ_0001 CGP 14:73136418-73274640

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000045 IEA autophagic vacuole assembly
GO:0000122 IEA negative regulation of transcription from RNA polymerase II promoter
GO:0000139 IEA Golgi membrane
GO:0000186 IEA activation of MAPKK activity
GO:0000776 IDA kinetochore
GO:0001568 IEA blood vessel development
GO:0001708 IEA cell fate specification
GO:0001756 IEA somitogenesis
GO:0001764 IEA neuron migration
GO:0001921 IEA positive regulation of receptor recycling
GO:0001933 IEA negative regulation of protein phosphorylation
GO:0001934 IEA positive regulation of protein phosphorylation
GO:0001947 IEA heart looping
GO:0002244 IEA hematopoietic progenitor cell differentiation
GO:0002286 IEA T cell activation involved in immune response
GO:0002573 IEA myeloid leukocyte differentiation
GO:0004175 IDA endopeptidase activity
GO:0004190 IEA aspartic-type endopeptidase activity
GO:0005262 IMP calcium channel activity
GO:0005515 IPI protein binding
GO:0005622 IEA intracellular
GO:0005634 IEA nucleus
GO:0005640 IDA nuclear outer membrane
GO:0005739 IDA mitochondrion
GO:0005743 IBA mitochondrial inner membrane
GO:0005765 IBA lysosomal membrane
GO:0005783 IDA endoplasmic reticulum
GO:0005789 IEA endoplasmic reticulum membrane
GO:0005790 IDA smooth endoplasmic reticulum
GO:0005791 IDA rough endoplasmic reticulum
GO:0005794 IDA Golgi apparatus
GO:0005813 IDA centrosome
GO:0005886 IEA plasma membrane
GO:0005887 IDA integral component of plasma membrane
GO:0005938 IBA cell cortex
GO:0006469 IEA negative regulation of protein kinase activity
GO:0006486 IEA protein glycosylation
GO:0006508 IEA proteolysis
GO:0006509 IDA membrane protein ectodomain proteolysis
GO:0006839 IEA mitochondrial transport
GO:0006874 IEA cellular calcium ion homeostasis
GO:0006914 IEA autophagy
GO:0006974 IEA cellular response to DNA damage stimulus
GO:0006979 IEA response to oxidative stress
GO:0007175 IEA negative regulation of epidermal growth factor-activated receptor activity
GO:0007176 IEA regulation of epidermal growth factor-activated receptor activity
GO:0007219 IEA Notch signaling pathway
GO:0007220 IBA Notch receptor processing
GO:0007420 IEA brain development
GO:0007507 IEA heart development
GO:0007611 IEA learning or memory
GO:0007613 IEA memory
GO:0008013 IPI beta-catenin binding
GO:0008233 IEA peptidase activity
GO:0009791 IEA post-embryonic development
GO:0009986 IBA cell surface
GO:0015031 IEA protein transport
GO:0015813 IEA L-glutamate transport
GO:0015871 IEA choline transport
GO:0016020 IDA membrane
GO:0016021 IEA:TAS integral component of membrane
GO:0016080 IEA synaptic vesicle targeting
GO:0016324 IBA apical plasma membrane
GO:0016337 IMP single organismal cell-cell adhesion
GO:0016485 IDA protein processing
GO:0021795 IEA cerebral cortex cell migration
GO:0021870 IEA Cajal-Retzius cell differentiation
GO:0021904 IEA dorsal/ventral neural tube patterning
GO:0021987 IEA cerebral cortex development
GO:0022008 IEA neurogenesis
GO:0022617 TAS extracellular matrix disassembly
GO:0030018 IBA Z disc
GO:0030165 IPI PDZ domain binding
GO:0030182 IEA neuron differentiation
GO:0030198 TAS extracellular matrix organization
GO:0030326 IEA embryonic limb morphogenesis
GO:0030424 IBA axon
GO:0030425 IEA dendrite
GO:0030426 IBA growth cone
GO:0030900 IEA forebrain development
GO:0031410 IEA cytoplasmic vesicle
GO:0031594 IBA neuromuscular junction
GO:0031965 IDA nuclear membrane
GO:0032436 IEA positive regulation of proteasomal ubiquitin-dependent protein catabolic process
GO:0032469 IGI endoplasmic reticulum calcium ion homeostasis
GO:0034205 IEA beta-amyloid formation
GO:0035253 IBA ciliary rootlet
GO:0035282 IEA segmentation
GO:0035556 IEA intracellular signal transduction
GO:0040011 IEA locomotion
GO:0042325 IDA regulation of phosphorylation
GO:0042987 IBA amyloid precursor protein catabolic process
GO:0043005 IEA neuron projection
GO:0043011 IEA myeloid dendritic cell differentiation
GO:0043025 IBA neuronal cell body
GO:0043065 IEA positive regulation of apoptotic process
GO:0043066 IDA negative regulation of apoptotic process
GO:0043085 IDA positive regulation of catalytic activity
GO:0043198 IBA dendritic shaft
GO:0043227 IEA membrane-bounded organelle
GO:0043234 IEA protein complex
GO:0043393 IEA regulation of protein binding
GO:0043406 IEA positive regulation of MAP kinase activity
GO:0043524 IEA negative regulation of neuron apoptotic process
GO:0043589 IEA skin morphogenesis
GO:0044267 IEA cellular protein metabolic process
GO:0045121 IBA membrane raft
GO:0045296 IBA cadherin binding
GO:0045860 IEA positive regulation of protein kinase activity
GO:0048167 IEA regulation of synaptic plasticity
GO:0048471 IBA perinuclear region of cytoplasm
GO:0048538 IEA thymus development
GO:0048666 IEA neuron development
GO:0048705 IEA skeletal system morphogenesis
GO:0048854 IEA brain morphogenesis
GO:0050435 IBA beta-amyloid metabolic process
GO:0050673 IEA epithelial cell proliferation
GO:0050771 IEA negative regulation of axonogenesis
GO:0050820 IEA positive regulation of coagulation
GO:0050852 IEA T cell receptor signaling pathway
GO:0051402 IEA neuron apoptotic process
GO:0051444 IEA negative regulation of ubiquitin-protein transferase activity
GO:0051563 IBA smooth endoplasmic reticulum calcium ion homeostasis
GO:0051604 IEA protein maturation
GO:0051966 IEA regulation of synaptic transmission, glutamatergic
GO:0060070 IBA canonical Wnt signaling pathway
GO:0060075 IEA regulation of resting membrane potential
GO:0070588 IMP calcium ion transmembrane transport
GO:0070765 IDA gamma-secretase complex
GO:2000059 IEA negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
GO:2001234 IEA negative regulation of apoptotic signaling pathway

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000004870 psen1 presenilin 1 protein_coding Danio_rerio
ENSMUSG00000019969 Psen1 presenilin 1 protein_coding Mus_musculus

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