| Identification |
|---|
| HMDB Protein ID
| CDBP03171 |
| Secondary Accession Numbers
| Not Available |
| Name
| Presenilin-1 |
| Description
| Not Available |
| Synonyms
|
- PS-1
- PS1-CTF12
- Presenilin-1 CTF subunit
- Presenilin-1 CTF12
- Presenilin-1 NTF subunit
- Protein S182
|
| Gene Name
| PSEN1 |
| Protein Type
| Enzyme |
| Biological Properties |
|---|
| General Function
| Involved in intracellular signaling pathway |
| Specific Function
| Probable catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta-amyloid precursor protein). Requires the other members of the gamma-secretase complex to have a protease activity. May play a role in intracellular signaling and gene expression or in linking chromatin to the nuclear membrane. Stimulates cell-cell adhesion though its association with the E-cadherin/catenin complex. Under conditions of apoptosis or calcium influx, cleaves E-cadherin promoting the disassembly of the E-cadherin/catenin complex and increasing the pool of cytoplasmic beta-catenin, thus negatively regulating Wnt signaling. May also play a role in hematopoiesis |
| GO Classification
|
| Component |
| intrinsic to membrane |
| integral to membrane |
| membrane |
| cell part |
| membrane part |
| Process |
| intracellular signaling pathway |
| signaling |
| signaling pathway |
|
| Cellular Location
|
- Golgi apparatus membrane
- Endoplasmic reticulum membrane
- Multi-pass membrane protein
- Multi-pass membrane protein
- Cell surface
|
| Pathways
|
Not Available
|
| Gene Properties |
|---|
| Chromosome Location
| Chromosome:1 |
| Locus
| 14q24.3 |
| SNPs
| PSEN1 |
| Gene Sequence
|
>1404 bp
ATGACAGAGTTACCTGCACCGTTGTCCTACTTCCAGAATGCACAGATGTCTGAGGACAAC
CACCTGAGCAATACTGTACGTAGCCAGAATGACAATAGAGAACGGCAGGAGCACAACGAC
AGACGGAGCCTTGGCCACCCTGAGCCATTATCTAATGGACGACCCCAGGGTAACTCCCGG
CAGGTGGTGGAGCAAGATGAGGAAGAAGATGAGGAGCTGACATTGAAATATGGCGCCAAG
CATGTGATCATGCTCTTTGTCCCTGTGACTCTCTGCATGGTGGTGGTCGTGGCTACCATT
AAGTCAGTCAGCTTTTATACCCGGAAGGATGGGCAGCTAATCTATACCCCATTCACAGAA
GATACCGAGACTGTGGGCCAGAGAGCCCTGCACTCAATTCTGAATGCTGCCATCATGATC
AGTGTCATTGTTGTCATGACTATCCTCCTGGTGGTTCTGTATAAATACAGGTGCTATAAG
GTCATCCATGCCTGGCTTATTATATCATCTCTATTGTTGCTGTTCTTTTTTTCATTCATT
TACTTGGGGGAAGTGTTTAAAACCTATAACGTTGCTGTGGACTACATTACTGTTGCACTC
CTGATCTGGAATTTTGGTGTGGTGGGAATGATTTCCATTCACTGGAAAGGTCCACTTCGA
CTCCAGCAGGCATATCTCATTATGATTAGTGCCCTCATGGCCCTGGTGTTTATCAAGTAC
CTCCCTGAATGGACTGCGTGGCTCATCTTGGCTGTGATTTCAGTATATGATTTAGTGGCT
GTTTTGTGTCCGAAAGGTCCACTTCGTATGCTGGTTGAAACAGCTCAGGAGAGAAATGAA
ACGCTTTTTCCAGCTCTCATTTACTCCTCAACAATGGTGTGGTTGGTGAATATGGCAGAA
GGAGACCCGGAAGCTCAAAGGAGAGTATCCAAAAATTCCAAGTATAATGCAGAAAGCACA
GAAAGGGAGTCACAAGACACTGTTGCAGAGAATGATGATGGCGGGTTCAGTGAGGAATGG
GAAGCCCAGAGGGACAGTCATCTAGGGCCTCATCGCTCTACACCTGAGTCACGAGCTGCT
GTCCAGGAACTTTCCAGCAGTATCCTCGCTGGTGAAGACCCAGAGGAAAGGGGAGTAAAA
CTTGGATTGGGAGATTTCATTTTCTACAGTGTTCTGGTTGGTAAAGCCTCAGCAACAGCC
AGTGGAGACTGGAACACAACCATAGCCTGTTTCGTAGCCATATTAATTGGTTTGTGCCTT
ACATTATTACTCCTTGCCATTTTCAAGAAAGCATTGCCAGCTCTTCCAATCTCCATCACC
TTTGGGCTTGTTTTCTACTTTGCCACAGATTATCTTGTACAGCCTTTTATGGACCAATTA
GCATTCCATCAATTTTATATCTAG
|
| Protein Properties |
|---|
| Number of Residues
| 467 |
| Molecular Weight
| 52667.3 |
| Theoretical pI
| 4.97 |
| Pfam Domain Function
|
|
| Signals
|
|
|
Transmembrane Regions
|
- ["83-103", "133-153", "161-181", "191-211", "221-241", "244-264", "408-428", "433-453"]
|
| Protein Sequence
|
>Presenilin-1
MTELPAPLSYFQNAQMSEDNHLSNTVRSQNDNRERQEHNDRRSLGHPEPLSNGRPQGNSR
QVVEQDEEEDEELTLKYGAKHVIMLFVPVTLCMVVVVATIKSVSFYTRKDGQLIYTPFTE
DTETVGQRALHSILNAAIMISVIVVMTILLVVLYKYRCYKVIHAWLIISSLLLLFFFSFI
YLGEVFKTYNVAVDYITVALLIWNFGVVGMISIHWKGPLRLQQAYLIMISALMALVFIKY
LPEWTAWLILAVISVYDLVAVLCPKGPLRMLVETAQERNETLFPALIYSSTMVWLVNMAE
GDPEAQRRVSKNSKYNAESTERESQDTVAENDDGGFSEEWEAQRDSHLGPHRSTPESRAA
VQELSSSILAGEDPEERGVKLGLGDFIFYSVLVGKASATASGDWNTTIACFVAILIGLCL
TLLLLAIFKKALPALPISITFGLVFYFATDYLVQPFMDQLAFHQFYI
|
| External Links |
|---|
| GenBank ID Protein
| 4506163 |
| UniProtKB/Swiss-Prot ID
| P49768 |
| UniProtKB/Swiss-Prot Entry Name
| PSN1_HUMAN |
| PDB IDs
|
Not Available |
| GenBank Gene ID
| NM_000021.3 |
| GeneCard ID
| PSEN1 |
| GenAtlas ID
| PSEN1 |
| HGNC ID
| HGNC:9508 |
| References |
|---|
| General References
| Not Available |