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E5RG63

- E5RG63_HUMAN

UniProt

E5RG63 - E5RG63_HUMAN

Protein

Presenilin

Gene

PSEN2

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 5 out of 5- Protein inferred from homologyi
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    • History
      Entry version 30 (01 Oct 2014)
      Sequence version 1 (08 Feb 2011)
      Previous versions | rss
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    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. anagen Source: Ensembl
    2. beta-amyloid metabolic process Source: Ensembl
    3. brain morphogenesis Source: Ensembl
    4. calcium ion transport Source: Ensembl
    5. cardiac muscle contraction Source: Ensembl
    6. cell fate specification Source: Ensembl
    7. cellular protein metabolic process Source: Ensembl
    8. dorsal/ventral neural tube patterning Source: Ensembl
    9. embryonic limb morphogenesis Source: Ensembl
    10. endoplasmic reticulum calcium ion homeostasis Source: Ensembl
    11. forebrain 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: Ensembl
    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

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

    Keywords - Cellular componenti

    Endoplasmic reticulumUniRule annotation, Golgi apparatusUniRule annotation, Membrane

    Expressioni

    Gene expression databases

    ArrayExpressiE5RG63.
    BgeeiE5RG63.

    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

    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

    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: October 1, 2014
    This is version 30 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