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PSEN1 presenilin 1 [ Canis lupus familiaris (dog) ]

Gene ID: 403408, updated on 5-Mar-2024

Summary

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Official Symbol
PSEN1provided by VGNC
Official Full Name
presenilin 1provided by VGNC
Primary source
VGNC:VGNC:45085
See related
Ensembl:ENSCAFG00845012166
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Canis lupus familiaris (sub-species: familiaris)
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Also known as
PS-1
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 8
Exon count:
13
Annotation release Status Assembly Chr Location
106 current ROS_Cfam_1.0 (GCF_014441545.1) 8 NC_051812.1 (46719986..46800157)
106 current Dog10K_Boxer_Tasha (GCF_000002285.5) 8 NC_006590.4 (46188004..46253311)
106 current UU_Cfam_GSD_1.0 (GCF_011100685.1) 8 NC_049229.1 (46805794..46871397)
106 current UMICH_Zoey_3.1 (GCF_005444595.1) 8 NC_049268.1 (46399068..46464638)
106 current UNSW_CanFamBas_1.0 (GCF_013276365.1) 8 NC_049749.1 (46414872..46480438)

Chromosome 8 - NC_051812.1Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 25 Neighboring gene uncharacterized LOC111097103 Neighboring gene L-lactate dehydrogenase B chain-like Neighboring gene papilin, proteoglycan like sulfated glycoprotein Neighboring gene akirin-1-like Neighboring gene NUMB endocytic adaptor protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Cloning, sequencing and expression in the dog of the main amyloid precursor protein isoforms and some of the enzymes related with their processing. Sarasa L, et al. Neuroscience, 2010 Dec 29. PMID 20875843

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables aspartic endopeptidase activity, intramembrane cleaving IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables cadherin binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in Notch receptor processing IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in amyloid precursor protein catabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in amyloid-beta metabolic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in calcium ion transport IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in membrane protein ectodomain proteolysis IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in protein processing IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in smooth endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in Z disc IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cell cortex IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in dendritic shaft IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in growth cone IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
presenilin-1
Names
presenilin 1 (Alzheimer disease 3)
NP_001002943.2
NP_001280213.1
XP_038528759.1
XP_038528760.1
XP_038528761.1
XP_038528762.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001002943.3 → NP_001002943.2  presenilin-1 isoform 1

    See identical proteins and their annotated locations for NP_001002943.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1, also known as I-466).
    Source sequence(s)
    JAAUVH010000053
    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    UniProtKB/TrEMBL
    A0A8C0PFQ1, A0A8C0QV56, A0A8I3RZ86
    Conserved Domains (1) summary
    pfam01080
    Location:75 → 456
    Presenilin

  2. NM_001293284.2 → NP_001280213.1  presenilin-1 isoform 2

    See identical proteins and their annotated locations for NP_001280213.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2 (also known as I-462), which is shorter than isoform 1.
    Source sequence(s)
    JAAUVH010000053
    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    Conserved Domains (1) summary
    pfam01080
    Location:71 → 452
    Presenilin

RefSeqs of Annotated Genomes: Canis lupus familiaris Annotation Release 106 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference ROS_Cfam_1.0

Genomic

  1. NC_051812.1 Reference ROS_Cfam_1.0

    Range
    46719986..46800157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_038672831.1 → XP_038528759.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    UniProtKB/TrEMBL
    A0A8C0PFQ1, A0A8C0QV56, A0A8I3RZ86
    Related
    ENSCAFP00845017053.1, ENSCAFT00845021689.1
    Conserved Domains (1) summary
    pfam01080
    Location:75 → 456
    Presenilin

  2. XM_038672834.1 → XP_038528762.1  presenilin-1 isoform X2

    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    Conserved Domains (1) summary
    pfam01080
    Location:71 → 452
    Presenilin

  3. XM_038672832.1 → XP_038528760.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    UniProtKB/TrEMBL
    A0A8C0PFQ1, A0A8C0QV56, A0A8I3RZ86
    Conserved Domains (1) summary
    pfam01080
    Location:75 → 456
    Presenilin

  4. XM_038672833.1 → XP_038528761.1  presenilin-1 isoform X1

    UniProtKB/Swiss-Prot
    Q6RH31, Q6RH32
    UniProtKB/TrEMBL
    A0A8C0PFQ1, A0A8C0QV56, A0A8I3RZ86
    Conserved Domains (1) summary
    pfam01080
    Location:75 → 456
    Presenilin

Alternate UMICH_Zoey_3.1

Genomic

  1. NC_049268.1 Alternate UMICH_Zoey_3.1

    Range
    46399068..46464638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UNSW_CanFamBas_1.0

Genomic

  1. NC_049749.1 Alternate UNSW_CanFamBas_1.0

    Range
    46414872..46480438
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate UU_Cfam_GSD_1.0

Genomic

  1. NC_049229.1 Alternate UU_Cfam_GSD_1.0

    Range
    46805794..46871397
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Dog10K_Boxer_Tasha Primary Assembly

Genomic

  1. NC_006590.4 Alternate Dog10K_Boxer_Tasha Primary Assembly

    Range
    46188004..46253311
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6RH31.2 GenPept UniProtKB/Swiss-Prot:Q6RH31

Gene LinkOut

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