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EPS15

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EPS15
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

1C07, 1EH2, 1F8H, 1FF1, 2IV9, 2JXC, 4RH5, 4RH9, 4RHG, 4S0G, 5JP2

Identifikatori
AliasiEPS15
Vanjski ID-jeviOMIM: 600051 MGI: 104583 HomoloGene: 128359 GeneCards: EPS15
Lokacija gena (čovjek)
Hromosom 1 (čovjek)
Hrom.Hromosom 1 (čovjek)[1]
Hromosom 1 (čovjek)
Genomska lokacija za EPS15
Genomska lokacija za EPS15
Bend1p32.3Početak51,354,263 bp[1]
Kraj51,519,266 bp[1]
Lokacija gena (miš)
Hromosom 4 (miš)
Hrom.Hromosom 4 (miš)[2]
Hromosom 4 (miš)
Genomska lokacija za EPS15
Genomska lokacija za EPS15
Bend4|4 C7Početak109,137,465 bp[2]
Kraj109,245,014 bp[2]
Obrazac RNK ekspresije


Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija calcium ion binding
SH3 domain binding
vezivanje iona metala
polyubiquitin modification-dependent protein binding
GO:0001948, GO:0016582 vezivanje za proteine
cadherin binding
vezivanje identičnih proteina
cargo receptor activity
Ćelijska komponenta endozom
clathrin coat of coated pit
early endosome membrane
membrana
intracellular membrane-bounded organelle
ćelijska membrana
aggresome
ciliary membrane
clathrin-coated pit
AP-2 adaptor complex
clathrin-coated vesicle
basal plasma membrane
apical plasma membrane
early endosome
citoplazma
citosol
sinapsa
postsynapse
glutamatergic synapse
Biološki proces negative regulation of epidermal growth factor receptor signaling pathway
Endocitoza
epidermal growth factor receptor signaling pathway
vesicle organization
Golgi to endosome transport
clathrin coat assembly
protein transport
viral entry into host cell
receptor-mediated endocytosis of virus by host cell
Ćelijska proliferacija
positive regulation of receptor recycling
regulation of cell population proliferation
endocytic recycling
membrane organization
GO:0022415 viral process
GO:0015915 transport
postsynaptic neurotransmitter receptor internalization
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001159969
NM_001981

NM_001159964
NM_007943

RefSeq (bjelančevina)

NP_001153441
NP_001972

NP_001153436
NP_031969

Lokacija (UCSC)Chr 1: 51.35 – 51.52 MbChr 4: 109.14 – 109.25 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Substrat 15 receptora epidermnog faktora rasta jest protein koji je kod ljudi kodiran genom EPS15 sa hromosoma 1.[5]

Amiokiselininska sekvenca

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Dužina polipeptidnog lanca je 896 aminokiselina, a molekulska težina 98.656 Da.[6]

1020304050
MAAAAQLSLTQLSSGNPVYEKYYRQVDTGNTGRVLASDAAAFLKKSGLPD
LILGKIWDLADTDGKGILNKQEFFVALRLVACAQNGLEVSLSSLNLAVPP
PRFHDTSSPLLISGTSAAELPWAVKPEDKAKYDAIFDSLSPVNGFLSGDK
VKPVLLNSKLPVDILGRVWELSDIDHDGMLDRDEFAVAMFLVYCALEKEP
VPMSLPPALVPPSKRKTWVVSPAEKAKYDEIFLKTDKDMDGFVSGLEVRE
IFLKTGLPSTLLAHIWSLCDTKDCGKLSKDQFALAFHLISQKLIKGIDPP
HVLTPEMIPPSDRASLQKNIIGSSPVADFSAIKELDTLNNEIVDLQREKN
NVEQDLKEKEDTIKQRTSEVQDLQDEVQRENTNLQKLQAQKQQVQELLDE
LDEQKAQLEEQLKEVRKKCAEEAQLISSLKAELTSQESQISTYEEELAKA
REELSRLQQETAELEESVESGKAQLEPLQQHLQDSQQEISSMQMKLMEMK
DLENHNSQLNWCSSPHSILVNGATDYCSLSTSSSETANLNEHVEGQSNLE
SEPIHQESPARSSPELLPSGVTDENEVTTAVTEKVCSELDNNRHSKEEDP
FNVDSSSLTGPVADTNLDFFQSDPFVGSDPFKDDPFGKIDPFGGDPFKGS
DPFASDCFFRQSTDPFATSSTDPFSAANNSSITSVETLKHNDPFAPGGTV
VAASDSATDPFASVFGNESFGGGFADFSTLSKVNNEDPFRSATSSSVSNV
VITKNVFEETSVKSEDEPPALPPKIGTPTRPCPLPPGKRSINKLDSPDPF
KLNDPFQPFPGNDSPKEKDPEIFCDPFTSATTTTNKEADPSNFANFSAYP
SEEDMIEWAKRESEREEEQRLARLNQQEQEDLELAIALSKSEISEA

Funkcija

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Ovaj gen kodira protein koji je dio EGFR puta. Protein je prisutan u jamicama obloženim klatrinom i uključen je u endocitozu EGF posredovanu receptorima. Značajno je da je ovaj gen preuređen sa HRX/ALL/MLL genom u akutnoj mijeloidnoj leukemiji. Uočene su alternativne transkripcijske varijante transkripta ovog gena, ali nisu detaljno okarakterisane.[7]

Modelni organizmi

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Fenotip Eps15 nokaut-miševa
Svojstvo Fenotip
Vijabilnost homozigota Normalan
Studija recesivne letalnosti Normalan
Plodnost Normalan
Tjelesnsna težina Normalan
Anksioznost otvorenog polja Normalan
Neurološka procjena Normalan
Snaga stiska Normalan
Test vruće ploče Normalan
Dismorfologija Normalan
Indirektna kalorimetrija Normalan
Test tolerancije glukoze Normalan
Slušni odgovor moždanog stabla Normalan
DEXA Normalan
Radiografija Normalan
Tjelesna temperatura Normalan
Morfologija oka Normalan
Klinička hemija Normalan[8]
Hematologija Nenormalan
Limfociti periferne krvi Normalan
Mikronukleus test Normalan
Težina srca Normalan
Cjelovitost repne epiderme Normalan
Histopatologija kože Normalan
Histopatologija mozga Normalan
Salmonella infekcija Normalan[9]
Citrobacter infekcija Normalan[10]
Svi testovi i alalize su prema:[11][12]

Modelni organizmi bili su iz linije nokaut-miševa zvane Mtrf1ltm1a(KOMP)Wtsi[13][14] generirani po programu Međunarodnog konzorcija za nokaut-miševe — visokopropusnog projekta za mutagenezu, generiranje životinjskih modela, na Institutu Wellcome Trust Sanger, zainteresiranim naučnicima Mužjaci i ženke podvrgniti su standardiziranom fenotipskom pregledu za određivanje efekata delecija.[11][15] U studiji funkcije EPS15 korišteni su modelni organizmi. Provedeno je 26 testova na mutantnim miševima i uočena je jedna značajna abnormalnost: homozigotne mutantne životinje su imale smanjenu srednju korpuskularnu koncentraciju hemoglobina.

Interakcije

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Pokazalo se da je EPS15 u interakciji sa:

Reference

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000085832 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028552 - Ensembl, maj 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, Di Fiore PP (Jun 1994). "The human eps15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32". Oncogene. 9 (6): 1591–7. PMID 8183552.
  6. ^ "UniProt, P42566" (jezik: engleski). Pristupljeno 25. 11. 2021.
  7. ^ "Entrez Gene: EPS15 epidermal growth factor receptor pathway substrate 15".
  8. ^ "Clinical chemistry data for Mtrf1l". Wellcome Trust Sanger Institute.
  9. ^ "Salmonella infection data for Mtrf1l". Wellcome Trust Sanger Institute.
  10. ^ "Citrobacter infection data for Mtrf1l". Wellcome Trust Sanger Institute.
  11. ^ a b Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  12. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ^ "International Knockout Mouse Consortium". Arhivirano s originala, 2. 6. 2012. Pristupljeno 25. 11. 2021.
  14. ^ "Mouse Genome Informatics".
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  16. ^ Schumacher C, Knudsen BS, Ohuchi T, Di Fiore PP, Glassman RH, Hanafusa H (juni 1995). "The SH3 domain of Crk binds specifically to a conserved proline-rich motif in Eps15 and Eps15R". J. Biol. Chem. 270 (25): 15341–7. doi:10.1074/jbc.270.25.15341. PMID 7797522.
  17. ^ Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P (august 1998). "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis". Nature. 394 (6695): 793–7. Bibcode:1998Natur.394..793C. doi:10.1038/29555. PMID 9723620. S2CID 4430975.
  18. ^ Bean AJ, Davanger S, Chou MF, Gerhardt B, Tsujimoto S, Chang Y (maj 2000). "Hrs-2 regulates receptor-mediated endocytosis via interactions with Eps15". J. Biol. Chem. 275 (20): 15271–8. doi:10.1074/jbc.275.20.15271. PMID 10809762.
  19. ^ Bache KG, Raiborg C, Mehlum A, Stenmark H (april 2003). "STAM and Hrs are subunits of a multivalent ubiquitin-binding complex on early endosomes". J. Biol. Chem. 278 (14): 12513–21. doi:10.1074/jbc.M210843200. PMID 12551915.
  20. ^ Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP (decembar 1999). "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport". J. Cell Biol. 147 (7): 1379–84. doi:10.1083/jcb.147.7.1379. PMC 2174238. PMID 10613896.
  21. ^ Nakashima S, Morinaka K, Koyama S, Ikeda M, Kishida M, Okawa K, Iwamatsu A, Kishida S, Kikuchi A (juli 1999). "Small G protein Ral and its downstream molecules regulate endocytosis of EGF and insulin receptors". EMBO J. 18 (13): 3629–42. doi:10.1093/emboj/18.13.3629. PMC 1171441. PMID 10393179.

Dopunska literatura

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Vanjski linkovi

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