CDC42EP4

CDC42EP4
Identifikatori
Aliasi	CDC42EP4
Vanjski ID-jevi	OMIM: 605468 MGI: 1929760 HomoloGene: 8110 GeneCards: CDC42EP4
Lokacija gena (čovjek)
Hrom.	Hromosom 17 (čovjek)
Kraj	73,312,005 bp
Lokacija gena (miš)
Hrom.	Hromosom 11 (miš)
Kraj	113,642,707 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity; • vezivanje sa RNK;
Ćelijska komponenta	• Endomembranski sistem; • ćelijska membrana; • citoskelet; • microtubule cytoskeleton; • membrana; • actin cytoskeleton; • citoplazma; • phagocytic vesicle;
Biološki proces	• positive regulation of actin filament polymerization; • positive regulation of pseudopodium assembly; • regulation of cell shape; • Rho protein signal transduction; • GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • cellular response to interferon-gamma;
	Izvori:Amigo / QuickGO
Ortolozi
	23580
	56699
	ENSG00000179604
	ENSMUSG00000041598
	Q9H3Q1
	Q9JM96
	NM_012121
	NM_001163346; NM_020006
	NP_036253
	NP_001156818; NP_064390
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 4 efektora Cdc42 je protein koji je kod ljudi kodiran genom CDC42EP4.^[5]^[6]^[7]

Proizvod ovog gena član je porodice CDC42 koja veže proteine. Članovi ove porodice komuniciraju sa GTPazama porodice Rho i reguliraju organizaciju aktinskog citoskeleta. Pokazalo se da ovaj protein veže i CDC42 i TC10 GTPaze na GTP-ovisan način. Kada je prekomerno eksprimiran u fibroblastima, ovaj protein može da inducira stvaranje pseudopodija, što sugerira ulogu u induciranju sklopa aktinskih filamenata i kontroli oblika ćelije.^[7]

Članovi porodice Rho gvanozin trifosfataza (GTPaze) imaju važnu ulogu u modeliranju citoskeleta. Joberty et al. (1999) identificirali su porodicu proteina, koju su nazvali Borg (prema engleskom nazivu „vezivo Rho GTPaza“), koja stupa u interakciju sa Cdc42 i TC10. Proteini iz ove porodice, poput CDC42EP4, dijele nekoliko domena, uključujući domen CRIB (Cdc42, Rac interaktivno vezanje) i domen 3 BH (Borgova homologija). Dobili su djelimičnu cDNK koja kodira BORG4.

Fluorescentnom hibridizacijom in situ, Osada et al. (2000) mapirali su mišji Borg4 na hromosomu 11E, a ljudski homolog na hromosomu 17, sekvnca q24-q25.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 356 aminokiselina, a molekulska težina 37.980 Da.^[8].

10	20	30	40	50
MPILKQLVSS	SVHSKRRSRA	DLTAEMISAP	LGDFRHTMHV	GRAGDAFGDT
SFLNSKAGEP	DGESLDEQPS	SSSSKRSLLS	RKFRGSKRSQ	SVTRGEREQR
DMLGSLRDSA	LFVKNAMSLP	QLNEKEAAEK	GTSKLPKSLS	SSPVKKANDG
EGGDEEAGTE	EAVPRRNGAA	GPHSPDPLLD	EQAFGDLTDL	PVVPKATYGL
KHAESIMSFH	IDLGPSMLGD	VLSIMDKEEW	DPEEGEGGYH	GDEGAAGTIT
QAPPYAVAAP	PLARQEGKAG	PDLPSLPSHA	LEDEGWAAAA	PSPGSARSMG
SHTTRDSSSL	SSCTSGILEE	RSPAFRGPDR	ARAAVSRQPD	KEFSFMDEEE
EDEIRV

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

Kloniranje i ekspresija

Osada et al. (2000) klonirali su mišji gen pune dužine i cDNK ljudskog BORG4 iz mozga, odnosno biblioteke cDNK ileumske sluznice odraslih. BORG4 dijeli visoko konzervirane domene CRIB, BH1 i BH3 i manje dobro konzervirani domen BH2. RT-PCR analiza pokazala je da se Borg4 sveprisutno eksprimira na niskim nivoima u tkivima odraslih miševa.^[9]

Klonirali su mišje sekvence pune dužine i ljudske BORG4 cDNK iz mozga, odnosno pregledali biblioteku cDNK ileumske sluznice odraslih. RT-PCR analiza pokazala je da se Borg4 sveprisutno eksprimira na niskim nivoima u tkivima odraslih miševa.

Hirsch i dr. (2001) identificirali su cDNA pune dužine koja kodira BORG4, a koju su nazvali CEP4. Utvrdili su da poput CEP1, CEP2 (606132) i CEP3, protein CEP4 sa 356 aminokiselina sadrži konzervirani domen BH2 ili CI; veže se kroz svoju CRIB domenu sa CDC42, ali ne i sa RAC (602048); izaziva stvaranje pseudopodija; a izražava se u citoplazmi i membrani fibroblasta.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000179604 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000041598 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hirsch DS, Pirone DM, Burbelo PD (Mar 2001). "A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes". J Biol Chem. 276 (2): 875–83. doi:10.1074/jbc.M007039200. PMID 11035016.
^ Joberty G, Perlungher RR, Macara IG (Feb 2000). "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins". Mol Cell Biol. 19 (10): 6585–97. doi:10.1128/MCB.19.10.6585. PMC 84628. PMID 10490598.
^ ^a ^b "Entrez Gene: CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4".
^ "UniProt, Q9H3Q1". Pristupljeno 25. 6. 2021.
^ Osada, N., Kusuda, J., Suzuki, Y., Sugano, S., Hashimoto, K. Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue. J. Hum. Genet. 45: 374-377, 2000. [PubMed]: 11185749
^ Hirsch, D. S., Pirone, D. M., Burbelo, P. D. A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. J. Biol. Chem. 276: 875-883, 2001. PubMed: 11035016

Dopunska literatura

Osada N, Kusuda J, Suzuki Y, et al. (2001). "Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue". J. Hum. Genet. 45 (6): 374–7. doi:10.1007/s100380070012. PMID 11185749.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Blackshaw S, Harpavat S, Trimarchi J, et al. (2006). "Genomic analysis of mouse retinal development". PLOS Biol. 2 (9): E247. doi:10.1371/journal.pbio.0020247. PMC 439783. PMID 15226823.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.

Vanjski linkovi

Lokacija ljudskog genoma CDC42EP4 i stranica sa detaljima o genu CDC42EP4 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000179604 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000041598 - 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.

[pmid11035016-5] Hirsch DS, Pirone DM, Burbelo PD (Mar 2001). "A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes". J Biol Chem. 276 (2): 875–83. doi:10.1074/jbc.M007039200. PMID 11035016.

[pmid10490598-6] Joberty G, Perlungher RR, Macara IG (Feb 2000). "The Borgs, a new family of Cdc42 and TC10 GTPase-interacting proteins". Mol Cell Biol. 19 (10): 6585–97. doi:10.1128/MCB.19.10.6585. PMC 84628. PMID 10490598.

[entrez-7] "Entrez Gene: CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4".

[UniProt-8] "UniProt, Q9H3Q1". Pristupljeno 25. 6. 2021.

[9] Osada, N., Kusuda, J., Suzuki, Y., Sugano, S., Hashimoto, K. Sequence analysis, gene expression, and chromosomal assignment of mouse Borg4 gene and its human orthologue. J. Hum. Genet. 45: 374-377, 2000. [PubMed]: 11185749

[10] Hirsch, D. S., Pirone, D. M., Burbelo, P. D. A new family of Cdc42 effector proteins, CEPs, function in fibroblast and epithelial cell shape changes. J. Biol. Chem. 276: 875-883, 2001. PubMed: 11035016

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