Gene Information
Gene NamePS1
OrganismHomo sapiens (Human)
Gene Length467
Protein NamesPresenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBP49768
Gene CardPSEN1
Uniprot IDP49768
PfamPF01080
In ASDyes
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityDetected in azurophile granules in neutrophils and in platelet cytoplasmic granules (at protein level) (PubMed:11987239). Expressed in a wide range of tissues including various regions of the brain, liver, spleen and lymph nodes (PubMed:7596406, PubMed:8641442, PubMed:8574969). {ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:7596406, ECO:0000269|PubMed:8574969, ECO:0000269|PubMed:8641442}.
Pharmacological Animal ModelsNULL(Chimpanzee);NULL(Mouse);0.273398(Rat);0.043750(Rabbit)
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 2KR6  (NMR  -  )  4UIS  (EM  4.40A  )  5A63  (EM  3.40A  )  5FN2  (EM  4.20A  )  5FN3  (EM  4.10A  )  5FN4  (EM  4.00A  )  5FN5  (EM  4.30A  )  6IDF  (EM  2.70A  )  6IYC  (EM  2.60A  )  6LQG  (EM  3.10A  )  6LR4  (EM  3.00A  )  7C9I  (EM  3.10A  )  7D8X  (EM  2.60A  ) 
DBSNP rs63750592  rs63749824  rs63749967  rs63750599  rs63750815  rs63751141  rs63750831  rs63750601  rs63750852  rs63750321  rs63751399  rs63750450  rs63750730  rs63750730  rs63749805  rs63750550  rs63751272  rs63750800  rs1595002439  rs63750353  rs63750522  rs63751106  rs63751106  rs63751037  rs63750322  rs63750004  rs63750391  rs63750306  rs63750306  rs63750907  rs63751441  rs63751292  rs63750588  rs778630379  rs63750590  rs63749885  rs63751484  rs63750265  rs63751210  rs63750418  rs63750577  rs63750963  rs63750299  rs63751144  rs63749911  rs63749806  rs63750155  rs63751068  rs63750311  rs1042864  rs63750082  rs63750082  rs63750569  rs63750053  rs63749880  rs63750053  rs63750861  rs63751309  rs63751003  rs267606983  rs63750761  rs63750009  rs63749970  rs63749836  rs63750799  rs63751287  rs63751024  rs63749835  rs63751130  rs63750858  rs63750858  rs63750526  rs63751163  rs63751420  rs63750964  rs63750248  rs63751102  rs63750543  rs63750301  rs121917807  rs63751229  rs63751019  rs63750900  rs63750886  rs63750284  rs1555355869  rs63749891  rs63749891  rs63750231  rs63750231  rs63750050  rs63749937  rs63751139  rs63751235  rs115865530  rs17125721  rs121917809  rs63751164  rs63751174  rs63750941  rs63750323  rs63750687  rs63750687  rs63750646  rs63750883  rs63751416  rs63750929  rs63751254  rs906454643  rs63750227  rs661  rs63751316  rs63751223  rs63750083  rs63750001  rs121917808  rs63749925  rs63750249 
Subcellular location [CC]Endoplasmic reticulum {ECO:0000269|PubMed:25394380}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:8574969, ECO:0000269|PubMed:9738936, ECO:0000305|PubMed:10037471, ECO:0000305|PubMed:15274632};
Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Golgi apparatus membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:8574969, ECO:0000305|PubMed:10037471, ECO:0000305|PubMed:15274632};
Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Cytoplasmic granule {ECO:0000269|PubMed:11987239}. Cell membrane {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:11953314, ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:21143716};
Multi-pass membrane protein {ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Cell projection, growth cone {ECO:0000269|PubMed:15004326}. Early endosome {ECO:0000269|PubMed:25394380}. Early endosome membrane {ECO:0000305|PubMed:25394380};
Multi-pass membrane protein {ECO:0000269|PubMed:25918421, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Cell projection, neuron projection {ECO:0000269|PubMed:15004326}. Cell projection, axon {ECO:0000250|UniProtKB:Q4JIM4}. Synapse {ECO:0000250|UniProtKB:Q4JIM4}. Note=Translocates with bound NOTCH1 from the endoplasmic reticulum and/or Golgi to the cell surface (PubMed:10593990). Colocalizes with CDH1/2 at sites of cell-cell contact. Colocalizes with CTNNB1 in the endoplasmic reticulum and the proximity of the plasma membrane (PubMed:9738936). Also present in azurophil granules of neutrophils (PubMed:11987239). Colocalizes with UBQLN1 in the cell membrane and in cytoplasmic juxtanuclear structures called aggresomes (PubMed:21143716). {ECO:0000269|PubMed:10593990, ECO:0000269|PubMed:11987239, ECO:0000269|PubMed:21143716, ECO:0000269|PubMed:9738936}.
Mouse PG classificationNA
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