TCHP

TCHP
Identifikatori
Aliasi	TCHP
Vanjski ID-jevi	OMIM: 612654 MGI: 1925082 HomoloGene: 12686 GeneCards: TCHP
Lokacija gena (čovjek)
Hrom.	Hromosom 12 (čovjek)
Kraj	109,983,841 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	114,860,388 bp
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• citoplazma; • ciliary transition fiber; • međućelijske veze; • centrosom; • ćelijska membrana; • apical cortex; • Dezmosom; • keratin filament; • citoskelet; • membrana; • mitohondrija; • citosol;
Biološki proces	• cell projection organization; • negative regulation of cell growth; • negative regulation of cilium assembly; • GO:0097285 apoptoza;
	Izvori:Amigo / QuickGO
Ortolozi
	84260
	77832
	ENSG00000139437
	ENSMUSG00000002486
	Q9BT92
	Q3TVW5
	NM_001143852; NM_032300
	NM_029992
	NP_001137324; NP_115676
	NP_084268
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Trihopleinski keratinski filament sa vezanim proteinom jest protein koji je kod ljudi kodiran genom TCHP.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 498 aminokiselina, a molekulska težina 61.072 Da.^[7]

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

10	20	30	40	50
MALPTLPSYW	CSQQRLNQQL	ARQREQEARL	RQQWEQNSRY	FRMSDICSSK
QAEWSSKTSY	QRSMHAYQRE	KMKEEKRRSL	EARREKLRQL	MQEEQDLLAR
ELEELRLSMN	LQERRIREQH	GKLKSAKEEQ	RKLIAEQLLY	EHWKKNNPKL
REMELDLHQK	HVVNSWEMQK	EEKKQQEATA	EQENKRYENE	YERARREALE
RMKAEEERRQ	LEDKLQAEAL	LQQMEELKLK	EVEATKLKKE	QENLLKQRWE
LERLEEERKQ	MEAFRQKAEL	GRFLRHQYNA	QLSRRTQQIQ	EELEADRRIL
QALLEKEDES	QRLHLARREQ	VMADVAWMKQ	AIEEQLQLER	AREAELQMLL
REEAKEMWEK	REAEWARERS	ARDRLMSEVL	TGRQQQIQEK	IEQNRRAQEE
SLKHREQLIR	NLEEVRELAR	REKEESEKLK	SARKQELEAQ	VAERRLQAWE
ADQQEEEEEE	EARRVEQLSD	ALLQQEAETM	AEQGYRPKPY	GHPKIAWN

Modelni organizmi

Fenotip nokaut-miša *Tchp^{tm1a(EUCOMM)Wtsi}*
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)	Nenormalan
Plazmatski imunoglobulini	Normalan
Hematologija	Normalan
Leukociti periferne krvi	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Histopatologija oka	Normalan
Salmonella infekcija	Normalan^[8]
Citrobacter infekcija	Normal^[9]
Svi testovi i analize su iz ^[10]^[11]

U proučavanju PNPO funkcije, korišteni su modelni organizmi. Uvjetna linija nokaut-miševa, zvana Tchp^{tm1a(EUCOMM)Wtsi}^[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 mutacije.^[10]^[17] Od 24 izvedena testa ina mutantnim miševima, uočene su dvije značajne 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; opažena je samo jedna nikakve značajnija abnormalnosti kod ovih životinja.^[10]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000139437 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000002486 - 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.
^ Nishizawa M, Izawa I, Inoko A, Hayashi Y, Nagata K, Yokoyama T, Usukura J, Inagaki M (Mar 2005). "Identification of trichoplein, a novel keratin filament-binding protein". Journal of Cell Science. 118 (Pt 5): 1081–90. doi:10.1242/jcs.01667. PMID 15731013.
^ "Entrez Gene: TCHP trichoplein, keratin filament binding".
^ "UniProt, Q9BT92". 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

Seibert JA, Boone JM (Mar 2005). "X-ray imaging physics for nuclear medicine technologists. Part 2: X-ray interactions and image formation". Journal of Nuclear Medicine Technology. 33 (1): 3–18. PMID 15731015.
Tokumasu F, Fairhurst RM, Ostera GR, Brittain NJ, Hwang J, Wellems TE, Dvorak JA (Mar 2005). "Band 3 modifications in Plasmodium falciparum-infected AA and CC erythrocytes assayed by autocorrelation analysis using quantum dots". Journal of Cell Science. 118 (Pt 5): 1091–8. doi:10.1242/jcs.01662. PMID 15731014.
Katanick SL (Mar 2005). "Fundamentals of ICANL accreditation". Journal of Nuclear Medicine Technology. 33 (1): 19–23. PMID 15731016.
Panzegrau B, Gordon L, Goudy GH (Mar 2005). "Outpatient therapeutic 131I for thyroid cancer". Journal of Nuclear Medicine Technology. 33 (1): 28–30. PMID 15731017.
Yu JQ, Zhuang H, Xiu Y, El-Haddad G, Kumar R, Alavi A (Mar 2005). "Small urine leak after renal transplantation: detection by delayed 99mTc-DTPA renography--a case report". Journal of Nuclear Medicine Technology. 33 (1): 31–3. PMID 15731018.
Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000139437 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000002486 - 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.

[pmid15731013-5] Nishizawa M, Izawa I, Inoko A, Hayashi Y, Nagata K, Yokoyama T, Usukura J, Inagaki M (Mar 2005). "Identification of trichoplein, a novel keratin filament-binding protein". Journal of Cell Science. 118 (Pt 5): 1081–90. doi:10.1242/jcs.01667. PMID 15731013.

[entrez-6] "Entrez Gene: TCHP trichoplein, keratin filament binding".

[UniProt-7] "UniProt, Q9BT92". 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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