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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. PSEN1, Presenilin 1
Sequence ID:NM_000021
NM_007318
RefSeqGene ID:NG_007386
Entrez Gene ID:5663
Ensembl ID:ENSG00000080815

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thymus, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
ACNE INVERSA, FAMILIAL, 3 
ALZHEIMER DISEASE, TYPE 3 
CARDIOMYOPATHY, DILATED, 1U 
DEMENTIA, FRONTOTEMPORAL, WITH OR WITHOUT PARKINSONISMMAPT
PICK DISEASEMAPT

Cytogenetic Location (from UniGene)

Cytogenetic Location:14q24.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:14: 73614727 - 73683866

 Exon Info From UCSC:
NM_000021
NM_007318

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
4423098Full LengthBC011729presenilin 1
3631276IncompleteBC002708presenilin 1 (Alzheimer disease 3)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000012  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000021 NP_000012 P49768 Presenilin
NM_007318 NP_015557    

Related Sequences

 
mRNAGenPeptSwissProt
U40379 AAB05894 P49768
U40380 AAB05895 P49768
L76517 AAB46370 P49768
L42110 AAB46416 P49768
BC011729 AAH11729 P49768
AF416717 AAL16811 P49768
HQ447260 ADQ31747  
AK223173 BAD96893 Q53FV8
AK312531 BAG35430 P49768
AK303876 BAH14071 B7Z8T5
AJ008005 CAA07825 P49768

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens PSEN1 NP_000012 M.musculus Psen1 19164 Gene Info NP_032969 93
R.norvegicus Psen1 29192   NP_062036 93
A.gambiae AgaP_AGAP002957 1273006   XP_311942 61
D.melanogaster Psn 40260   NP_001137988 60
C.elegans sel-12 180441   NP_508175 54
A.thaliana PS1 837391   NP_172346 40

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

NCI-Nature Pathway Interaction Database

BioCarta Pathways
Pathway information courtesy of BioCarta