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E5RG63

- E5RG63_HUMAN

UniProt

E5RG63 - E5RG63_HUMAN

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Protein
Presenilin
Gene
PSEN2
Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 5 out of 5 - Protein inferred from homologyi

Functioni

Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors By similarity.UniRule annotation

GO - Molecular functioni

  1. aspartic-type endopeptidase activity Source: InterPro

GO - Biological processi

  1. Notch signaling pathway Source: Ensembl
  2. T cell activation involved in immune response Source: Ensembl
  3. T cell receptor signaling pathway Source: Ensembl
  4. anagen Source: Ensembl
  5. beta-amyloid metabolic process Source: Ensembl
  6. brain morphogenesis Source: Ensembl
  7. calcium ion transport Source: Ensembl
  8. cardiac muscle contraction Source: Ensembl
  9. cell fate specification Source: Ensembl
  10. cellular protein metabolic process Source: Ensembl
  11. dorsal/ventral neural tube patterning Source: Ensembl
  12. embryonic limb morphogenesis Source: Ensembl
  13. endoplasmic reticulum calcium ion homeostasis Source: Ensembl
  14. forebrain development Source: Ensembl
  15. hematopoietic progenitor cell differentiation Source: Ensembl
  16. intracellular signal transduction Source: InterPro
  17. locomotion Source: Ensembl
  18. lung alveolus development Source: Ensembl
  19. memory Source: Ensembl
  20. myeloid leukocyte differentiation Source: Ensembl
  21. negative regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  22. negative regulation of protein binding Source: Ensembl
  23. negative regulation of protein complex assembly Source: Ensembl
  24. negative regulation of protein phosphorylation Source: Ensembl
  25. positive regulation of apoptotic process Source: Ensembl
  26. positive regulation of coagulation Source: Ensembl
  27. positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
  28. protein processing Source: Ensembl
  29. protein transport Source: Ensembl
  30. regulation of epidermal growth factor-activated receptor activity Source: Ensembl
  31. regulation of synaptic plasticity Source: Ensembl
  32. response to hypoxia Source: Ensembl
  33. somitogenesis Source: Ensembl
  34. thymus development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, ProteaseUniRule annotation

Keywords - Biological processi

Notch signaling pathwayUniRule annotation

Names & Taxonomyi

Protein namesi
Recommended name:
PresenilinUniRule annotation (EC:3.4.23.-UniRule annotation)
Gene namesi
Name:PSEN2Imported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:9509. PSEN2.

Subcellular locationi

GO - Cellular componenti

  1. Z disc Source: Ensembl
  2. cytosol Source: Ensembl
  3. endoplasmic reticulum Source: Ensembl
  4. integral component of membrane Source: UniProtKB-KW
  5. neuronal cell body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulumUniRule annotation, Golgi apparatusUniRule annotation, Membrane

Expressioni

Gene expression databases

ArrayExpressiE5RG63.
BgeeiE5RG63.

Interactioni

Subunit structurei

Homodimer By similarity.UniRule annotation

Structurei

3D structure databases

ProteinModelPortaliE5RG63.
SMRiE5RG63. Positions 154-304.

Family & Domainsi

Domaini

The PAL motif is required for normal active site conformation By similarity.UniRule annotation

Sequence similaritiesi

Belongs to the peptidase A22A family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixUniRule annotationSAAS annotations

Family and domain databases

InterProiIPR001493. Pept_A22A_PS2.
IPR001108. Peptidase_A22A.
IPR006639. Preselin/SPP.
[Graphical view]
PANTHERiPTHR10202. PTHR10202. 1 hit.
PTHR10202:SF11. PTHR10202:SF11. 1 hit.
PfamiPF01080. Presenilin. 2 hits.
[Graphical view]
PRINTSiPR01072. PRESENILIN.
PR01074. PRESENILIN2.
SMARTiSM00730. PSN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

E5RG63-1 [UniParc]FASTAAdd to Basket

« Hide

MISVIVVMTI FLVVLYKYRC YKFIHGWLIM SSLMLLFLFT YIYLGEVLKT    50
YNVAMDYPTL LLTVWNFGAV GMVCIHWKGP LVLQQAYLIM ISALMALVFI 100
KYLPEWSAWV ILGAISVYDL VAVLCPKGPL RMLVETAQER NEPIFPALIY 150
SSAMVWTVGM AKLDPSSQGA LQLPYDPEME EDSYDSFGEP SYPEVFEPPL 200
TGYPGEELEE EEERGVKLGL GDFIFYSVLV GKAAATGSGD WNTTLACFVA 250
ILIGLCLTLL LLAVFKKALP ALPISITFGL IFYFSTDNLV RPFMDTLASH 300
QLYI 304
Length:304
Mass (Da):34,094
Last modified:February 8, 2011 - v1
Checksum:iACA44C3A83C8C38E
GO

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL359732 Genomic DNA. No translation available.
AL391628 Genomic DNA. No translation available.

Genome annotation databases

EnsembliENST00000472139; ENSP00000427806; ENSG00000143801.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL359732 Genomic DNA. No translation available.
AL391628 Genomic DNA. No translation available.

3D structure databases

ProteinModelPortali E5RG63.
SMRi E5RG63. Positions 154-304.
ModBasei Search...
MobiDBi Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000472139 ; ENSP00000427806 ; ENSG00000143801 .

Organism-specific databases

HGNCi HGNC:9509. PSEN2.
GenAtlasi Search...

Miscellaneous databases

ChiTaRSi PSEN2. human.
NextBioi 35497961.

Gene expression databases

ArrayExpressi E5RG63.
Bgeei E5RG63.

Family and domain databases

InterProi IPR001493. Pept_A22A_PS2.
IPR001108. Peptidase_A22A.
IPR006639. Preselin/SPP.
[Graphical view ]
PANTHERi PTHR10202. PTHR10202. 1 hit.
PTHR10202:SF11. PTHR10202:SF11. 1 hit.
Pfami PF01080. Presenilin. 2 hits.
[Graphical view ]
PRINTSi PR01072. PRESENILIN.
PR01074. PRESENILIN2.
SMARTi SM00730. PSN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S., McLaren S., Milne S., Mistry S., Moore M.J., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R., Banerjee R., Bryant S.P., Burford D.C., Burrill W.D., Clegg S.M., Dhami P., Dovey O., Faulkner L.M., Gribble S.M., Langford C.F., Pandian R.D., Porter K.M., Prigmore E.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Ensembl
    Submitted (JUL-2011) to UniProtKB
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiE5RG63_HUMAN
AccessioniPrimary (citable) accession number: E5RG63
Entry historyi
Integrated into UniProtKB/TrEMBL: February 8, 2011
Last sequence update: February 8, 2011
Last modified: September 3, 2014
This is version 29 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

Lacks conserved residue(s) required for the propagation of feature annotation.UniRule annotation
The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.Imported

Keywords - Technical termi

Complete proteome, Reference proteome

External Data

Dasty 3

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