ACTB

ACTB
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3BYH, 3D2U, 3J82, 3LUE
Identifikatori
Aliasi	ACTB
Vanjski ID-jevi	OMIM: 102630 MGI: 87904 HomoloGene: 110648 GeneCards: ACTB
Lokacija gena (čovjek)
Hrom.	Hromosom 7 (čovjek)
Kraj	5,563,902 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	142,892,509 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • nucleotide binding; • nitric-oxide synthase binding; • Tat protein binding; • structural constituent of cytoskeleton; • GO:0001948, GO:0016582 vezivanje za proteine; • kinesin binding; • vezivanje identičnih proteina; • nucleosomal DNA binding; • ATP binding;
Ćelijska komponenta	• citoplazma; • blood microparticle; • membrana; • focal adhesion; • NuA4 histone acetyltransferase complex; • ćelijska membrana; • nukleoplazma; • cytoplasmic ribonucleoprotein granule; • Egzosom; • citoskelet; • dense body; • cortical cytoskeleton; • citosol; • myelin sheath; • Vanćelijsko;
Biološki proces	• epigenetic maintenance of chromatin in transcription-competent conformation; • substantia nigra development; • Fc-gamma receptor signaling pathway involved in phagocytosis; • ephrin receptor signaling pathway; • retina homeostasis; • vascular endothelial growth factor receptor signaling pathway; • platelet aggregation; • cell junction assembly; • cytoskeleton organization; • protein deubiquitination; • membrane organization;
	Izvori:Amigo / QuickGO
Ortolozi
	60
	11461
	ENSG00000075624
	ENSMUSG00000029580
	P60709
	P60710
	NM_001101
	NM_007393
	NP_001092
	NP_031419
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Beta-aktin (skraćenica ljudskog gena i proteina ACTB/ACTB) jedna je od šest različitih aktinskih izoformi koje su identifikovane kod ljudi. Ovo je jedan od dva nemišićna citoskeletna aktina. Aktini su visoko konzervirani proteini^[5]^[6] koji su uključeni u pokretljivost strukturu i integritet ćelija. Alfa aktini su glavni sastojak kontraktilnog aparata.^[7]

Interakcije

Dokazano je da beta-aktin imaju interakcije sa SPTBN2.^[8]^[9] Pored toga, utvrđeno je da RNK-vezujući protein Sam68 komunicira s iRNK koja kodira β-aktin, koji regulira sinapsnu tvorbu dendritskih grana sa svojim citoskeletnim komponentama.

Pokazano je da beta-aktin aktivira eNOS, povećavajući time proizvodnju NO. Pokazalo se da ostatak od osam aminokiselina (326-333) u aktinu posreduje u interakciji između aktina i eNOS.^[10]

Klinički značaj

Povratne mutacije u ovom genu povezane su sa slučajevima difuznim limfomom velikih ćelija.^[11]

Primjena

Beta aktin se često koristi u Western blotingu kao kontrola opterećenja, za normalizaciju ukupnih količina proteina i provjeru eventualne razgradnje proteina u uzorcima. Njegov transkript se također koristi se kao standard za održavanje stanja u qPCR. Njegova molekulska težina je približno 42 kDa.

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029580 - 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.
^ Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC (Jun 2015). "The evolution of compositionally and functionally distinct actin filaments". Journal of Cell Science. 128 (11): 2009–2019. doi:10.1242/jcs.165563. PMID 25788699.
^ Hanukoglu I, Tanese N, Fuchs E (Feb 1983). "Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions". Journal of Molecular Biology. 163 (4): 673–8. doi:10.1016/0022-2836(83)90117-1. PMID 6842590.
^ "Entrez Gene: ACTB actin, beta".
^ Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C (maj 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature. 411 (6835): 321–5. Bibcode:2001Natur.411..321M. doi:10.1038/35077108. PMID 11357136.
^ Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (Sep 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". The Journal of Biological Chemistry. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.
^ Kondrikov D, Fonseca FV, Elms S, Fulton D, Black SM, Block ER, Su Y (Feb 2010). "Beta-actin association with endothelial nitric-oxide synthase modulates nitric oxide and superoxide generation from the enzyme". The Journal of Biological Chemistry. 285 (7): 4319–27. doi:10.1074/jbc.M109.063172. PMC 2836036. PMID 19946124.
^ Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR (Mar 2012). "Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United States of America. 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. doi:10.1073/pnas.1121343109. PMC 3309757. PMID 22343534.

Vanjski linkovi

Lokacija ljudskog genoma ACTB i stranica sa detaljima o genu ACTB u UCSC Genome Browseru.
P60709

Dopunska literatura

Vandekerckhove J, Leavitt J, Kakunaga T, Weber K (1980). "Coexpression of a mutant beta-actin and the two normal beta- and gamma-cytoplasmic actins in a stably transformed human cell line". Cell. 22 (3): 893–9. doi:10.1016/0092-8674(80)90566-8. PMID 6893954.
Leavitt J, Gunning P, Porreca P, Ng SY, Lin CS, Kedes L (1984). "Molecular cloning and characterization of mutant and wild-type human beta-actin genes". Molecular and Cellular Biology. 4 (10): 1961–9. doi:10.1128/mcb.4.10.1961. PMC 369012. PMID 6095033.
Ng SY, Gunning P, Eddy R, Ponte P, Leavitt J, Shows T, Kedes L (1985). "Evolution of the functional human beta-actin gene and its multi-pseudogene family: conservation of noncoding regions and chromosomal dispersion of pseudogenes". Molecular and Cellular Biology. 5 (10): 2720–32. doi:10.1128/mcb.5.10.2720. PMC 367010. PMID 3837182.
Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease". Folia Biologica. 42 (5): 227–30. doi:10.1007/BF02818986. PMID 8997639.
Gunning P, Weinberger R, Jeffrey P (Apr 1997). "Actin and tropomyosin isoforms in morphogenesis". Anatomy and Embryology. 195 (4): 311–5. doi:10.1007/s004290050050. PMID 9108196.
Kimura T, Hashimoto I, Nishikawa M, Fujisawa JI (1997). "A role for Rev in the association of HIV-1 gag mRNA with cytoskeletal beta-actin and viral protein expression". Biochimie. 78 (11–12): 1075–80. doi:10.1016/S0300-9084(97)86732-6. PMID 9150887.
Szentirmay MN, Sawadogo M (maj 2000). "Spatial organization of RNA polymerase II transcription in the nucleus". Nucleic Acids Research. 28 (10): 2019–25. doi:10.1093/nar/28.10.2019. PMC 105382. PMID 10773068.
Anderson JL, Hope TJ (Apr 2004). "HIV accessory proteins and surviving the host cell". Current HIV/AIDS Reports. 1 (1): 47–53. doi:10.1007/s11904-004-0007-x. PMID 16091223.
Pederson T, Aebi U (Nov 2005). "Nuclear actin extends, with no contraction in sight". Molecular Biology of the Cell. 16 (11): 5055–60. doi:10.1091/mbc.E05-07-0656. PMC 1266405. PMID 16148048.
Perrin BJ, Ervasti JM (Oct 2010). "The actin gene family: function follows isoform". Cytoskeleton. 67 (10): 630–4. doi:10.1002/cm.20475. PMC 2949686. PMID 20737541.

Također pogledajte

Aktin
ACTA1

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000075624 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029580 - 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.

[gunning-5] Gunning PW, Ghoshdastider U, Whitaker S, Popp D, Robinson RC (Jun 2015). "The evolution of compositionally and functionally distinct actin filaments". Journal of Cell Science. 128 (11): 2009–2019. doi:10.1242/jcs.165563. PMID 25788699.

[pmid6842590-6] Hanukoglu I, Tanese N, Fuchs E (Feb 1983). "Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions". Journal of Molecular Biology. 163 (4): 673–8. doi:10.1016/0022-2836(83)90117-1. PMID 6842590.

[7] "Entrez Gene: ACTB actin, beta".

[pmid11357136-8] Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C (maj 2001). "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins". Nature. 411 (6835): 321–5. Bibcode:2001Natur.411..321M. doi:10.1038/35077108. PMID 11357136.

[pmid11461920-9] Holleran EA, Ligon LA, Tokito M, Stankewich MC, Morrow JS, Holzbaur EL (Sep 2001). "beta III spectrin binds to the Arp1 subunit of dynactin". The Journal of Biological Chemistry. 276 (39): 36598–605. doi:10.1074/jbc.M104838200. PMID 11461920.

[Actin_Enos-10] Kondrikov D, Fonseca FV, Elms S, Fulton D, Black SM, Block ER, Su Y (Feb 2010). "Beta-actin association with endothelial nitric-oxide synthase modulates nitric oxide and superoxide generation from the enzyme". The Journal of Biological Chemistry. 285 (7): 4319–27. doi:10.1074/jbc.M109.063172. PMC 2836036. PMID 19946124.

[pmid22343534-11] Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR (Mar 2012). "Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing". Proceedings of the National Academy of Sciences of the United States of America. 109 (10): 3879–84. Bibcode:2012PNAS..109.3879L. doi:10.1073/pnas.1121343109. PMC 3309757. PMID 22343534.

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