ERGIC2

ERGIC2
Identifikatori
Aliasi	ERGIC2
Vanjski ID-jevi	OMIM: 612236 MGI: 1914706 HomoloGene: 6574 GeneCards: ERGIC2
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	29,381,189 bp
Lokacija gena (miš)
Hrom.	Hromosom 6 (miš)
Kraj	148,113,872 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citoplazma; • integral component of membrane; • Golđijev aparat; • Jedarce; • endoplasmic reticulum membrane; • membrana; • endoplasmic reticulum-Golgi intermediate compartment membrane; • jedro; • intracellular membrane-bounded organelle; • Endoplazmatski retikulum; • COPII-coated ER to Golgi transport vesicle; • integral component of Golgi membrane; • integral component of endoplasmic reticulum membrane;
Biološki proces	• vesicle-mediated transport; • retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum; • GO:0015915 transport; • endoplasmic reticulum to Golgi vesicle-mediated transport;
	Izvori:Amigo / QuickGO
Ortolozi
	51290
	67456
	ENSG00000087502
	ENSMUSG00000030304
	Q96RQ1
	Q9CR89
	NM_016570
	NM_001286560; NM_026168; NM_026355
	NP_057654
	NP_001273489; NP_080444
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein 2 endoplazmatskoretikulumsko-Golgijevog intermedijarnog odjeljka (ERGIC2), znan i kao PTX1, CDA14 ili Erv41,^[5] je gen koji se kod ljudi nalazi na hromosomu 12, sekvenca p11. Kodira protein od 377 aminokiselinskih ostataka.

Biološka funkcija proteina ERGIC2 nije poznata, iako je u početku identificiran kao potencijalni supresor tumora raka prostate,^[6] i pokazalo se da izaziva zaustavljanje rasta ćelija i starenje, da suzbija stvaranje kolonija u mehkom agaru i da smanjuje invazivni potencijal ćelijske linije raka prostate kod ljudi (ćelije PC-3).^[7] Sada se vjeruje da je to šaperonska molekula uključena u promet proteina između endoplazmatskog retikuluma-Golgijevog srednjeg odjeljka (ERGIC) i Golgijevog aparata. Protein sadrži dva hidrofobna transmembranska domena koji pomažu učvršćivanje molekula na membrani endoplazmatskog retikuluma (ER), tako da se njegov veliki lumenski domen orijentira unutar lumena ER, a i na N– i na C-kraju su okrenuti prema citosolu. ERGIC2 tvori kompleks s dva druga proteina, ERGIC3 i ERGIC32, što rezultira šatlom za promet proteina između ER i Golgijevog aparata.^[8] Pokazalo se da stupa u interakciju s brojnim proteinima, kao što su beta-amiloid,^[9] proteinski elongacijski faktor 1 alfa,^[10] i otoferlin.^[11] Stoga može imati važnu ulogu u ćelijskim funkcijama, osim što je sastavni dio šatla za promet proteina. Nedavno je prijavljen varijantni transkript ERGIC2.^[12]

Ima deleciju četiri baze na spoju egzona 8 i 9, što rezultira mutacijom pomaka okvira nakon 189. kodona. Varijanta transkripta kodira krnji protein od 215 ostataka, koji gubi 45% lumenskog i transmembranskog domena, u blizini C-kraja. Time se učinkovito ukida njegova funkcija transportera proteina. Slična varijanta zabilježena je i kod armadila. Dakle, ovo nije slučajna mutacija. Funkcija ovog krnjeg proteina nije poznata.

Aminokiselinska sekvenca[uredi | uredi izvor]

Dužina polipeptidnog lanca je 377 aminokiselina, a molekulska težina 42.549 Da.^[13]

10	20	30	40	50
MRRLNRKKTL	SLVKELDAFP	KVPESYVETS	ASGGTVSLIA	FTTMALLTIM
EFSVYQDTWM	KYEYEVDKDF	SSKLRINIDI	TVAMKCQYVG	ADVLDLAETM
VASADGLVYE	PTVFDLSPQQ	KEWQRMLQLI	QSRLQEEHSL	QDVIFKSAFK
STSTALPPRE	DDSSQSPNAC	RIHGHLYVNK	VAGNFHITVG	KAIPHPRGHA
HLAALVNHES	YNFSHRIDHL	SFGELVPAII	NPLDGTEKIA	IDHNQMFQYF
ITVVPTKLHT	YKISADTHQF	SVTERERIIN	HAAGSHGVSG	IFMKYDLSSL
MVTVTEEHMP	FWQFFVRLCG	IVGGIFSTTG	MLHGIGKFIV	EIICCRFRLG
SYKPVNSVPF	EDGHTDNHLP	LLENNTH

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

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000087502 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030304 - 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.
^ "Entrez Gene: ERGIC2 ERGIC and golgi 2".
^ Kwok SC, Liu X, Daskal I (2001). "Molecular cloning, expression, localization, and gene organization of PTX1, a human nuclear protein that is downregulated in prostate cancer". DNA Cell Biol. 20 (6): 349–57. doi:10.1089/10445490152122460. PMID 11445006.
^ Liu X, Daskal I, Kwok SC (2003). "Effects of PTX1 expression on growth and tumorigenicity of the prostate cancer cell line PC-3". DNA Cell Biol. 22 (7): 469–74. doi:10.1089/104454903322247343. PMID 12932305.
^ Breuza L, Halbeisen R, Jenö P, et al. (2004). "Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46". J. Biol. Chem. 279 (45): 47242–53. doi:10.1074/jbc.M406644200. PMID 15308636.
^ Nelson TJ, Alkon DL (2007). "Protection against beta-amyloid-induced apoptosis by peptides interacting with beta-amyloid". J Biol Chem. 282 (43): 31238–49. doi:10.1074/jbc.M705558200. PMID 17761669.
^ Yang YF, Chou MY, Fan CY, Chen SF, Lyu PC, Liu CC, Tseng TL (2008). "The possible interaction of CDA14 and protein elongation factor 1alpha". Biochim Biophys Acta. 1784 (2): 312–8. doi:10.1016/j.bbapap.2007.10.006. PMID 17980171.
^ Zak M, Breß A, Brandt N, Franz C, Ruth P, Pfister M, Knipper M, Blin N (2012). "Ergic2, a brain specific interacting partner of otoferlin". Cell Physiol Biochem. 29 (5–6): 941–8. doi:10.1159/000188338. PMID 22613993.
^ Kwok SC, Kumar S, Dai G (2014). "Characterization of a variant ERGIC2 transcript". DNA Cell Biol. 33 (2): 73–78. doi:10.1089/dna.2013.2225. PMID 24303950.
^ "UniProt, Q96RQ1". Pristupljeno 9. 8. 2021.

Dopunska literatura[uredi | uredi izvor]

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
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.
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.
Kwok SC, Liu X, Mangel P, Daskal I (2006). "PTX1(ERGIC2)-VP22 fusion protein upregulates interferon-beta in prostate cancer cell line PC-3". DNA Cell Biol. 25 (9): 523–9. doi:10.1089/dna.2006.25.523. PMID 16989575.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000087502 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000030304 - 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.

[entrez-5] "Entrez Gene: ERGIC2 ERGIC and golgi 2".

[pmid=_11445006-6] Kwok SC, Liu X, Daskal I (2001). "Molecular cloning, expression, localization, and gene organization of PTX1, a human nuclear protein that is downregulated in prostate cancer". DNA Cell Biol. 20 (6): 349–57. doi:10.1089/10445490152122460. PMID 11445006.

[pmid=_12932305-7] Liu X, Daskal I, Kwok SC (2003). "Effects of PTX1 expression on growth and tumorigenicity of the prostate cancer cell line PC-3". DNA Cell Biol. 22 (7): 469–74. doi:10.1089/104454903322247343. PMID 12932305.

[pmid=_15308636-8] Breuza L, Halbeisen R, Jenö P, et al. (2004). "Proteomics of endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membranes from brefeldin A-treated HepG2 cells identifies ERGIC-32, a new cycling protein that interacts with human Erv46". J. Biol. Chem. 279 (45): 47242–53. doi:10.1074/jbc.M406644200. PMID 15308636.

[pmid=_17761669-9] Nelson TJ, Alkon DL (2007). "Protection against beta-amyloid-induced apoptosis by peptides interacting with beta-amyloid". J Biol Chem. 282 (43): 31238–49. doi:10.1074/jbc.M705558200. PMID 17761669.

[pmid=_17980171-10] Yang YF, Chou MY, Fan CY, Chen SF, Lyu PC, Liu CC, Tseng TL (2008). "The possible interaction of CDA14 and protein elongation factor 1alpha". Biochim Biophys Acta. 1784 (2): 312–8. doi:10.1016/j.bbapap.2007.10.006. PMID 17980171.

[pmid=_22613993-11] Zak M, Breß A, Brandt N, Franz C, Ruth P, Pfister M, Knipper M, Blin N (2012). "Ergic2, a brain specific interacting partner of otoferlin". Cell Physiol Biochem. 29 (5–6): 941–8. doi:10.1159/000188338. PMID 22613993.

[pmid=_24303950-12] Kwok SC, Kumar S, Dai G (2014). "Characterization of a variant ERGIC2 transcript". DNA Cell Biol. 33 (2): 73–78. doi:10.1089/dna.2013.2225. PMID 24303950.

[UniProt-13] "UniProt, Q96RQ1". Pristupljeno 9. 8. 2021.

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