Format

Send to:

Choose Destination

PSEN1 presenilin 1 [ Homo sapiens (human) ]

Gene ID: 5663, updated on 20-Jun-2021

Summary

Official Symbol
PSEN1provided by HGNC
Official Full Name
presenilin 1provided by HGNC
Primary source
HGNC:HGNC:9508
See related
Ensembl:ENSG00000080815 MIM:104311
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AD3; FAD; PS1; PS-1; S182; ACNINV3
Summary
Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
Expression
Ubiquitous expression in colon (RPKM 14.6), small intestine (RPKM 14.0) and 25 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See PSEN1 in Genome Data Viewer
Location:
14q24.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (73136436..73223691)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73603215..73690399)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RBM25 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 586, pseudogene Neighboring gene required for meiotic nuclear division 1 homolog (S. cerevisiae) pseudogene Neighboring gene RNA binding motif protein 25 Neighboring gene PAPLN antisense RNA 1 Neighboring gene RNA, U6 small nuclear 419, pseudogene Neighboring gene papilin, proteoglycan like sulfated glycoprotein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acne inversa, familial, 3
MedGen: C3151038 OMIM: 613737 GeneReviews: Not available
not available
Alzheimer disease, type 3
MedGen: C1843013 OMIM: 607822 GeneReviews: Alzheimer Disease Overview
not available
Cardiomyopathy, dilated, 1u not available
Frontotemporal dementia
MedGen: C0338451 OMIM: 600274 GeneReviews: Not available
not available
Pick disease
MedGen: C0236642 OMIM: 172700 GeneReviews: Not available
not available
Primary dilated cardiomyopathy not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables aspartic endopeptidase activity, intramembrane cleaving IDA
Inferred from Direct Assay
more info
PubMed 
enables aspartic endopeptidase activity, intramembrane cleaving IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables aspartic-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
enables endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables growth factor receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Cajal-Retzius cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in L-glutamate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in Notch receptor processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Notch receptor processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Notch receptor processing TAS
Traceable Author Statement
more info
PubMed 
involved_in Notch receptor processing, ligand-dependent TAS
Traceable Author Statement
more info
 
involved_in T cell activation involved in immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in T cell receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in activation of MAPKK activity IEA
Inferred from Electronic Annotation
more info
 
involved_in amyloid precursor protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in amyloid precursor protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid precursor protein catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in amyloid precursor protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in amyloid-beta formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in amyloid-beta metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in astrocyte activation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in astrocyte activation involved in immune response IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in autophagosome assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel development IEA
Inferred from Electronic Annotation
more info
 
involved_in brain morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in calcium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell fate specification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to amyloid-beta IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebral cortex cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in choline transport IEA
Inferred from Electronic Annotation
more info
 
involved_in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within endoplasmic reticulum calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endoplasmic reticulum calcium ion homeostasis IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in endoplasmic reticulum calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
involved_in epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in heart looping IEA
Inferred from Electronic Annotation
more info
 
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in learning or memory IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in learning or memory TAS
Traceable Author Statement
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in membrane protein ectodomain proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in membrane protein intracellular domain proteolysis TAS
Traceable Author Statement
more info
 
involved_in memory IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in mitochondrial transport IEA
Inferred from Electronic Annotation
more info
 
involved_in modulation of age-related behavioral decline IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in modulation of age-related behavioral decline TAS
Traceable Author Statement
more info
PubMed 
involved_in myeloid dendritic cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of core promoter binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of epidermal growth factor-activated receptor activity IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
NOT involved_in negative regulation of low-density lipoprotein receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in neural retina development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection maintenance IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in neutrophil degranulation TAS
Traceable Author Statement
more info
 
involved_in positive regulation of L-glutamate import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of MAP kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of amyloid fibril formation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
involved_in positive regulation of catalytic activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of coagulation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of dendritic spine development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of glycolytic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein binding IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of receptor recycling IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of tumor necrosis factor production IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
involved_in protein processing IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein processing IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in protein processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of gene expression IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of resting membrane potential IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
involved_in sequestering of calcium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in skin morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in smooth endoplasmic reticulum calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in somitogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in synapse organization IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in synaptic vesicle targeting IEA
Inferred from Electronic Annotation
more info
 
involved_in thymus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in Z disc IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in aggresome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in azurophil granule membrane TAS
Traceable Author Statement
more info
 
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
 
is_active_in cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in ciliary rootlet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in dendritic shaft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
part_of gamma-secretase complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of gamma-secretase complex IGI
Inferred from Genetic Interaction
more info
PubMed 
is_active_in growth cone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in growth cone IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of presynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
located_in kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane raft IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuromuscular junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nuclear outer membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in rough endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sarcolemma IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in smooth endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
presenilin-1
NP_000012.1
NP_015557.2
XP_005267921.1
XP_005267923.1
XP_011535274.1
XP_011535275.1
XP_011535276.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_007386.2 RefSeqGene

    Range
    5037..92221
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_224

mRNA and Protein(s)

  1. NM_000021.4NP_000012.1  presenilin-1 isoform I-467

    See identical proteins and their annotated locations for NP_000012.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (I-467).
    Source sequence(s)
    AK094186, AK312531, AW069286, BC011729, DA670846, DB075605, DB203403
    Consensus CDS
    CCDS9812.1
    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A024R6A3
    Related
    ENSP00000326366.5, ENST00000324501.10
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  2. NM_007318.3NP_015557.2  presenilin-1 isoform I-463

    See identical proteins and their annotated locations for NP_015557.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternative donor splice site at one of the coding exons compared to transcript variant 1. It maintains the same reading frame, and encodes a shorter isoform (I-463) missing a 4 aa peptide compared to isoform I-467.
    Source sequence(s)
    AK094186, AW069286, BC011729, DA670846, DB075605, DB203403
    Consensus CDS
    CCDS9813.1
    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A0S2Z4D2
    Related
    ENSP00000350342.4, ENST00000357710.8
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    73136436..73223691
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267866.2XP_005267923.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_005267923.1

    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A0S2Z4D2
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin
  2. XM_005267864.3XP_005267921.1  presenilin-1 isoform X1

    See identical proteins and their annotated locations for XP_005267921.1

    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A024R6A3
    Related
    ENSP00000451429.1, ENST00000557511.5
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  3. XM_011536972.2XP_011535274.1  presenilin-1 isoform X1

    See identical proteins and their annotated locations for XP_011535274.1

    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A024R6A3
    Conserved Domains (1) summary
    pfam01080
    Location:76457
    Presenilin
  4. XM_011536973.2XP_011535275.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_011535275.1

    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A0S2Z4D2
    Related
    ENSP00000377719.1, ENST00000394164.5
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin
  5. XM_011536974.2XP_011535276.1  presenilin-1 isoform X2

    See identical proteins and their annotated locations for XP_011535276.1

    UniProtKB/Swiss-Prot
    P49768
    UniProtKB/TrEMBL
    A0A0S2Z4D2
    Related
    ENSP00000385948.1, ENST00000406768.1
    Conserved Domains (1) summary
    pfam01080
    Location:72453
    Presenilin

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_007319.1: Suppressed sequence

    Description
    NM_007319.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Support Center