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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.UniRule annotation

GO - Molecular functioni

  1. aspartic-type endopeptidase activity Source: InterPro

GO - Biological processi

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

Endoplasmic reticulum membrane UniRule annotation; Multi-pass membrane protein UniRule annotation
Golgi apparatus membrane UniRule annotation; Multi-pass membrane protein UniRule annotation

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulumUniRule annotation, Golgi apparatusUniRule annotation, Membrane

Expressioni

Gene expression databases

BgeeiE5RG63.
ExpressionAtlasiE5RG63. baseline and differential.

Interactioni

Subunit structurei

Homodimer.UniRule annotation

Structurei

3D structure databases

ProteinModelPortaliE5RG63.
SMRiE5RG63. Positions 154-304.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

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

Sequence similaritiesi

Belongs to the peptidase A22A family.UniRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helixUniRule annotationSAAS annotation

Phylogenomic databases

GeneTreeiENSGT00390000016593.

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

        10         20         30         40         50
MISVIVVMTI FLVVLYKYRC YKFIHGWLIM SSLMLLFLFT YIYLGEVLKT
60 70 80 90 100
YNVAMDYPTL LLTVWNFGAV GMVCIHWKGP LVLQQAYLIM ISALMALVFI
110 120 130 140 150
KYLPEWSAWV ILGAISVYDL VAVLCPKGPL RMLVETAQER NEPIFPALIY
160 170 180 190 200
SSAMVWTVGM AKLDPSSQGA LQLPYDPEME EDSYDSFGEP SYPEVFEPPL
210 220 230 240 250
TGYPGEELEE EEERGVKLGL GDFIFYSVLV GKAAATGSGD WNTTLACFVA
260 270 280 290 300
ILIGLCLTLL LLAVFKKALP ALPISITFGL IFYFSTDNLV RPFMDTLASH

QLYI
Length:304
Mass (Da):34,094
Last modified:February 8, 2011 - v1
Checksum:iACA44C3A83C8C38E
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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...

Chemistry

BindingDBi E5RG63.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000472139 ; ENSP00000427806 ; ENSG00000143801 .

Organism-specific databases

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

Phylogenomic databases

GeneTreei ENSGT00390000016593.

Miscellaneous databases

ChiTaRSi PSEN2. human.
NextBioi 35497961.

Gene expression databases

Bgeei E5RG63.
ExpressionAtlasi E5RG63. baseline and differential.

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: November 26, 2014
This is version 32 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 proteomeImported

External Data

Dasty 3