BRK1

BRK1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3P8C, 4N78
Identifikatori
Aliasi	BRK1
Vanjski ID-jevi	OMIM: 611183 MGI: 1915406 HomoloGene: 10210 GeneCards: BRK1
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	10,127,190 bp
Lokacija gena (miš)
Hrom.	Hromosom 6 (miš)
Kraj	113,593,912 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • GO:0032403 protein-containing complex binding; • vezivanje identičnih proteina;
Ćelijska komponenta	• citoplazma; • citosol; • Egzosom; • citoskelet; • SCAR complex; • lamellipodium;
Biološki proces	• vascular endothelial growth factor receptor signaling pathway; • Rac protein signal transduction; • positive regulation of Arp2/3 complex-mediated actin nucleation; • in utero embryonic development; • positive regulation of lamellipodium assembly; • actin cytoskeleton organization; • Fc-gamma receptor signaling pathway involved in phagocytosis; • positive regulation of cell population proliferation; • protein homotrimerization; • actin filament organization; • cell motility; • regulation of actin polymerization or depolymerization; • positive regulation of protein-containing complex assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	55845
	101314
	ENSG00000254999
	ENSMUSG00000033940
	Q8WUW1
	Q91VR8
	NM_018462
	NM_133937
	NP_060932
	NP_598698
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

BRICK1 jest navodni mikropeptidni protein koji je kod ljudi kodiran genom C3orf10 sa hromosoma 3.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 75aminokiselina, а molekulska težina 8.745 Da.^[7]

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

10		20		30		40		50
MAGQEDPVQR		EIHQDWANRE		YIEIITSSIK		KIADFLNSFD		MSCRSRLATL
NEKLTALERR		IEYIEARVTK		GETLT

Funkcija

Paragangliomi glave i vrata (HNP) javljaju se kao sporadični ili porodični entiteti, potonji uglavnom u vezi s mutacijama zametne linije gena SDHB, SDHC ili SDHD (SDHx). Nasljedni ne-SDHx HNP može se pojaviti kod von Hippel-Lindauove bolesti (VHL, VHL gen), višestruke endokrine neoplazije tipa 2 (MEN2, RET gen) i neurofibromatoze tipa 1 (NF1, NF1 gen). Izvještaji o ne-SDHx HNP prezentacijama su rijetki, a smjernice za genetičko testiranje ne postoje. Međunarodni konzorcij registrovao je pacijente sa HNP i izvršio analizu mutacija gena SDHx, VHL i RET. Oni sa SDHx mutacijama zametne linije isključeni su za potrebe jedne studije iz 2007. Lična i porodična anamneza procenjena je za paraganglijske tumore, za glavne manifestacije tumora i za porodičnu anamnezu VHL, MEN2 ili NF1. Utvrđeno je da 12 pacijenata ima nasljedne ne-SDHx HNP od ukupno 809 HNP i 2084 VHL registriranih, 11 u okruženju VHL mutacije zametne linije i jedan s RET mutacijom. Prevalencija nasljednog HNP-a je 5/1000 VHL pacijenata i 9/1000 pacijenata koji nisu s SDHx HNP. Sveobuhvatan pregled literature otkrio je prethodne izvještaje o HNP kod pet VHL, dva MEN2 i jednog NF1 pacijenta. Sveukupno, 11 je prikazalo slučajeve HNP, a četiri ranije prijavljena VHL-HNP su imala lezije karakteristične za VHL i/ili pozitivnu porodičnu anamnezu za VHL. Zaključeno je ova zapažanja pružaju dokaz da molekulskogenetičko testiranje na VHL ili RET mutacije zametne linije kod pacijenata sa HNP treba raditi samo ako lična i/ili porodična anamneza pokazuje dokaze za jedan od ovih sindroma.^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000254999 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033940 - 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.
^ Maranchie JK, Afonso A, Albert PS, Kalyandrug S, Phillips JL, Zhou S, Peterson J, Ghadimi BM, Hurley K, Riss J, Vasselli JR, Ried T, Zbar B, Choyke P, Walther MM, Klausner RD, Linehan WM (Jan 2004). "Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location". Human Mutation. 23 (1): 40–6. doi:10.1002/humu.10302. PMID 14695531. S2CID 20671312.
^ "Entrez Gene: C3orf10 chromosome 3 open reading frame 10".
^ "UniProt, Q8WUW1" (jezik: engleski). Pristupljeno 1. 11. 2021.
^ Cascón A, Escobar B, Montero-Conde C, Rodríguez-Antona C, Ruiz-Llorente S, Osorio A, Mercadillo F, Letón R, Campos JM, García-Sagredo JM, Benítez J, Malumbres M, Robledo M (Jun 2007). "Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients". Human Mutation. 28 (6): 613–21. doi:10.1002/humu.20496. PMID 17311301. S2CID 20428491.

Dopunska literatura

Mayne M, Moffatt T, Kong H, McLaren PJ, Fowke KR, Becker KG, Namaka M, Schenck A, Bardoni B, Bernstein CN, Melanson M (Apr 2004). "CYFIP2 is highly abundant in CD4+ cells from multiple sclerosis patients and is involved in T cell adhesion". European Journal of Immunology. 34 (4): 1217–27. doi:10.1002/eji.200324726. PMID 15048733.
Eden S, Rohatgi R, Podtelejnikov AV, Mann M, Kirschner MW (Aug 2002). "Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck". Nature. 418 (6899): 790–3. doi:10.1038/nature00859. PMID 12181570. S2CID 4350733.
Witke W, Podtelejnikov AV, Di Nardo A, Sutherland JD, Gurniak CB, Dotti C, Mann M (Feb 1998). "In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly". The EMBO Journal. 17 (4): 967–76. doi:10.1093/emboj/17.4.967. PMC 1170446. PMID 9463375.
Kitamura T, Kitamura Y, Yonezawa K, Totty NF, Gout I, Hara K, Waterfield MD, Sakaue M, Ogawa W, Kasuga M (Feb 1996). "Molecular cloning of p125Nap1, a protein that associates with an SH3 domain of Nck". Biochemical and Biophysical Research Communications. 219 (2): 509–14. doi:10.1006/bbrc.1996.0264. PMID 8605018.

Vanjski linkovi

Lokacija ljudskog genoma BRK1 i stranica sa detaljima o genu BRK1 u UCSC Genome Browseru.
PDBe-KB provides an overview of all the structure information available in the PDB for Human Protein BRICK1

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000254999 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033940 - 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.

[pmid14695531-5] Maranchie JK, Afonso A, Albert PS, Kalyandrug S, Phillips JL, Zhou S, Peterson J, Ghadimi BM, Hurley K, Riss J, Vasselli JR, Ried T, Zbar B, Choyke P, Walther MM, Klausner RD, Linehan WM (Jan 2004). "Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location". Human Mutation. 23 (1): 40–6. doi:10.1002/humu.10302. PMID 14695531. S2CID 20671312.

[entrez-6] "Entrez Gene: C3orf10 chromosome 3 open reading frame 10".

[UniProt-7] "UniProt, Q8WUW1" (jezik: engleski). Pristupljeno 1. 11. 2021.

[8] Cascón A, Escobar B, Montero-Conde C, Rodríguez-Antona C, Ruiz-Llorente S, Osorio A, Mercadillo F, Letón R, Campos JM, García-Sagredo JM, Benítez J, Malumbres M, Robledo M (Jun 2007). "Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients". Human Mutation. 28 (6): 613–21. doi:10.1002/humu.20496. PMID 17311301. S2CID 20428491.

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