TWF1

TWF1
Identifikatori
Aliasi	TWF1
Vanjski ID-jevi	OMIM: 610932 MGI: 1100520 HomoloGene: 48140 GeneCards: TWF1
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	43,806,328 bp
Lokacija gena (miš)
Hrom.	Hromosom 15 (miš)
Kraj	94,487,770 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0032403 protein-containing complex binding; • protein tyrosine kinase activity; • ATP binding; • actin monomer binding; • phosphatidylinositol-4,5-bisphosphate binding; • cadherin binding; • actin binding; • GO:0001948, GO:0016582 vezivanje za proteine; • actin filament binding;
Ćelijska komponenta	• intracellular anatomical structure; • citoskelet; • focal adhesion; • Filopodija; • actin cytoskeleton; • cell-cell junction; • perinuklearno područje citoplazme; • Miofibril; • ruffle membrane; • citoplazma; • citosol; • Mikronit;
Biološki proces	• regulation of actin phosphorylation; • barbed-end actin filament capping; • sequestering of actin monomers; • negative regulation of actin filament polymerization; • positive regulation of cardiac muscle hypertrophy; • regulation of lamellipodium assembly; • positive regulation of neuron projection development; • peptidyl-tyrosine phosphorylation; • actin filament depolymerization;
	Izvori:Amigo / QuickGO
Ortolozi
	5756
	19230
	ENSG00000151239
	ENSMUSG00000022451
	Q12792
	Q91YR1
	NM_001242397; NM_002822; NM_198974
	NM_008971
	NP_001229326; NP_002813
	NP_032997; NP_001389738; NP_001389739
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Tvinfilin-1 je protein koji je kod ljudi kodiran genom TWF1.^[5]^[6]

Ovaj gen kodira tvinfilin, protein koji se veže za monomer aktina konzerviran od kvasaca do sisara. Studije na mišjim homolozima ukazuju na to da ovaj protein može da se veže za monomer aktina, a njegovu lokalizaciju u korteksnim strukturama bogatim G-aktinom može regulirati mala GTPaza RAC1.^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 350 aminokiselina, a molekulska težina 40.283 Da.^[7]

10	20	30	40	50
MSHQTGIQAS	EDVKEIFARA	RNGKYRLLKI	SIENEQLVIG	SYSQPSDSWD
KDYDSFVLPL	LEDKQPCYIL	FRLDSQNAQG	YEWIFIAWSP	DHSHVRQKML
YAATRATLKK	EFGGGHIKDE	VFGTVKEDVS	LHGYKKYLLS	QSSPAPLTAA
EEELRQIKIN	EVQTDVGVDT	KHQTLQGVAF	PISREAFQAL	EKLNNRQLNY
VQLEIDIKNE	IIILANTTNT	ELKDLPKRIP	KDSARYHFFL	YKHSHEGDYL
ESIVFIYSMP	GYTCSIRERM	LYSSCKSRLL	EIVERQLQMD	VIRKIEIDNG
DELTADFLYE	EVHPKQHAHK	QSFAKPKGPA	GKRGIRRLIR	GPAETEATTD

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

Modelni organizmi

Fenotip nokaut-miša *Twf1*
Svojstvo	Fenotip
Vijabilnost homozigota	Normalan
Studija recesivne letalnosti	Normalan
Plodnost	Normalan
Tjelesna težina	Normalan
Test otvorenog polja: anksioznost	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 (nalaz)	Normalan
Plazmatski imunoglobulini	Normalan
Hematologija	Normalan
Leukociti periferne krvi	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Histopatologija oka	Normalan
Salmonella infekcija	Normal^[8]
Citrobacter infekcija	Normalan^[9]
Svi testovi i analize su iz ^[10]^[11]

U proučavanju PNPO funkcije, korišteni su modelni organizmi. Uvjetna linija nokaut- miševa, zvana Twf1^[12]^[13] generirana je kao dio programa Međunarosnog konzorcija za miševe – visokopropusnog projekta mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[14]^[15]^[16]

Muške i ženske životinje prolazile su standardizirani fenotipski skrining, kako bi se utvrdili efekti delecije.^[10]^[17] Od 24 izvedena testa ina mutantnim miševima, nisu uočene značajnije abnormalnosti.^[10] Tokom gestacije, nije utvrđen homozigotni mutantni embrion, pa tako nijedan nije preživio do odvikavanja. Preostali testovi su izvedeni na mutiranim heterozigotnim odraslim miševima; nisu opažene nikakve dodatne značajne abnormalnosti kod ovih životinja.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000151239 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022451 - 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.
^ Beeler JF, LaRochelle WJ, Chedid M, Tronick SR, Aaronson SA (februar 1994). "Prokaryotic expression cloning of a novel human tyrosine kinase". Mol. Cell. Biol. 14 (2): 982–8. doi:10.1128/mcb.14.2.982. PMC 358453. PMID 7507208.
^ ^a ^b "Entrez Gene: TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila)".
^ "UniProt, Q12792". Pristupljeno 14. 8. 2021.
^ "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 14. 8. 2021.
^ "Mouse Genome Informatics".
^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ 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.

Dopunska literatura

Palmgren S, Vartiainen M, Lappalainen P (2002). "Twinfilin, a molecular mailman for actin monomers". J. Cell Sci. 115 (Pt 5): 881–6. PMID 11870207.
Hassel S, Eichner A, Yakymovych M, et al. (2004). "Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry". Proteomics. 4 (5): 1346–58. doi:10.1002/pmic.200300770. PMID 15188402. S2CID 6773754.
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.
Vartiainen MK, Sarkkinen EM, Matilainen T, et al. (2003). "Mammals have two twinfilin isoforms whose subcellular localizations and tissue distributions are differentially regulated". J. Biol. Chem. 278 (36): 34347–55. doi:10.1074/jbc.M303642200. PMID 12807912.
Galey D, Becker K, Haughey N, et al. (2003). "Differential transcriptional regulation by human immunodeficiency virus type 1 and gp120 in human astrocytes". J. Neurovirol. 9 (3): 358–71. doi:10.1080/13550280390201119. PMID 12775419. S2CID 22016092.
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.
Ojala PJ, Paavilainen VO, Vartiainen MK, et al. (2003). "The two ADF-H domains of twinfilin play functionally distinct roles in interactions with actin monomers". Mol. Biol. Cell. 13 (11): 3811–21. doi:10.1091/mbc.E02-03-0157. PMC 133594. PMID 12429826.
Paavilainen VO, Merckel MC, Falck S, et al. (2003). "Structural conservation between the actin monomer-binding sites of twinfilin and actin-depolymerizing factor (ADF)/cofilin". J. Biol. Chem. 277 (45): 43089–95. doi:10.1074/jbc.M208225200. PMID 12207032.

Vanjski linkovi

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000151239 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022451 - 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.

[pmid7507208-5] Beeler JF, LaRochelle WJ, Chedid M, Tronick SR, Aaronson SA (februar 1994). "Prokaryotic expression cloning of a novel human tyrosine kinase". Mol. Cell. Biol. 14 (2): 982–8. doi:10.1128/mcb.14.2.982. PMC 358453. PMID 7507208.

[entrez-6] "Entrez Gene: TWF1 twinfilin, actin-binding protein, homolog 1 (Drosophila)".

[UniProt-7] "UniProt, Q12792". Pristupljeno 14. 8. 2021.

[''Salmonella''_infection-8] "Salmonella infection data for Pnpo". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-9] "Citrobacter infection data for Pnpo". Wellcome Trust Sanger Institute.

[mgp_reference-10] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[11] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-12] "International Knockout Mouse Consortium". Arhivirano s originala, 3. 4. 2012. Pristupljeno 14. 8. 2021.

[mgi_allele_ref-13] "Mouse Genome Informatics".

[pmid21677750-14] Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-15] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-16] Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid21722353-17] 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.

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