AGPAT3

AGPAT3
Identifikatori
Aliasi	AGPAT3
Vanjski ID-jevi	OMIM: 614794 MGI: 1336186 HomoloGene: 10591 GeneCards: AGPAT3
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	43,987,592 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	78,188,323 bp
Obrazac RNK ekspresije
	; ; ; ;
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • acyltransferase activity; • lysophosphatidic acid acyltransferase activity; • 1-acylglycerol-3-phosphate O-acyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • ćelijska membrana; • nuclear envelope; • Endoplazmatski retikulum; • endoplasmic reticulum membrane; • membrana; • jedro; • Golđijeva membrana;
Biološki proces	• phosphatidic acid biosynthetic process; • CDP-diacylglycerol biosynthetic process; • metabolizam; • phospholipid biosynthetic process; • lipid metabolism; • phospholipid metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	56894
	28169
	ENSG00000160216
	ENSMUSG00000001211
	Q9NRZ7
	Q9D517
	NM_001037553; NM_020132; NM_001369878; NM_001369880; NM_001369881
	NM_053014
	NP_001032642; NP_064517; NP_001356807; NP_001356809; NP_001356810
NP_443747; NP_001391799; NP_001391800; NP_001391801; NP_001391802;
	NP_001391803; NP_001391804; NP_001391805; NP_001391806; NP_001391807; NP_001391808; NP_001391809; NP_001391810; NP_001391811
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

1-acil-sn-glicerol-3-fosfat aciltransferaza gama jest enzim koji je kod ljudi kodiran genom AGPAT3 sa hromosoma 21.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 376 aminokiselina, a molekulska težina 43.381 Da.^[5]

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
MGLLAFLKTQ	FVLHLLVGFV	FVVSGLVINF	VQLCTLALWP	VSKQLYRRLN
CRLAYSLWSQ	LVMLLEWWSC	TECTLFTDQA	TVERFGKEHA	VIILNHNFEI
DFLCGWTMCE	RFGVLGSSKV	LAKKELLYVP	LIGWTWYFLE	IVFCKRKWEE
DRDTVVEGLR	RLSDYPEYMW	FLLYCEGTRF	TETKHRVSME	VAAAKGLPVL
KYHLLPRTKG	FTTAVKCLRG	TVAAVYDVTL	NFRGNKNPSL	LGILYGKKYE
ADMCVRRFPL	EDIPLDEKEA	AQWLHKLYQE	KDALQEIYNQ	KGMFPGEQFK
PARRPWTLLN	FLSWATILLS	PLFSFVLGVF	ASGSPLLILT	FLGFVGAASF
GVRRLIGVTE	IEKGSSYGNQ	EFKKKE

Funkcija

Protein kodiran ovim genom je aciltransferaza (konkretno, 1-acilglicerol-3-fosfat O-aciltransferaza) koja pretvara lizofosfatidnu kiselinu u fosfatidnu kiselinu, što je drugi korak u de novo fosfolipidnom biosintetskom putu. Kodirani protein može biti integralni membranski protein. Za ovaj gen su pronađene dvije varijante transkripta koje kodiraju isti protein.^[5]

Modelni organizmi

U proučavanju funkcije AGPAT3 korišćeni su modelni organizmi. Uslovna nokaut-mišja linija zvana Agpat3^{tm1a(EUCOMM)Wtsi}^[6]^[7] generirana je kao dio programa Međunarodnog konzorcija za noksut-miševe — projekta mutageneze visoke propusnosti za generiranje i distribuciju životinjskih modela bolesti zainteresiranim naučnicima.^[8]^[9]^[10]

Fenotip *Agpat3* nokaut-miševa
Svojstvo	Fenotip
Vijabilnost homozigota	Nenormalan
Studija recesivne letalnosti	Normalan
Plodnost	Normalan
Tjelesna težina	Normalan
Anksioznost otvorenog polja	Normalan
Neurološka procjena	Normalan
Snaga stiska	Normalan
Test vruće ploče	Normalan
Dismorfologija	Normalan
Indirektna kalorimetrija	Normal
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normalan
Radiografija	Normalan
Tjelesna temperatura	Normalan
Morfologija oka	Normalan
Klinička hemija	Normalan
Plazmatski imunoglobulini	Normalan
Hematologija	Normalan
Mikronukleus test	Normalan
Težina srca	Normalan
Histopatologija kože	Normalan
Histopatologija mozga	Normalan
Salmonella infekcija	Normalan^[11]
Citrobacter infekcija	Normalan^[12]
Svi testovi i analize su prema:^[13]^[14]

Mužjaci i ženke podvrgnuti su standardizovanom fenotipskom pregledu da bi se utvrdili efekti delecija.^[13]^[15] Obavljeno je 25 testova na mutantnim miševima i uočena je jedna značajna abnormalnost.^[13] Nekoliko homozigotnih mutantnih životinja je preživjelo do odbijanja. Preostali testovi su sprovedeni na heterozigotnim mutantnim odraslim miševima; kod njih nisu uočene nikakve dodatne značajne abnormalnosti.^[13]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160216 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000001211 - 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.
^ ^a ^b ^c "Entrez Gene: AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3".
^ "International Knockout Mouse Consortium".
^ "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.
^ "Salmonella infection data for Agpat3". Wellcome Trust Sanger Institute.
^ "Citrobacter infection data for Agpat3". 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.
^ 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

Leung DW (2001). "The structure and functions of human lysophosphatidic acid acyltransferases". Front. Biosci. 6: D944–53. doi:10.2741/Leung. PMID 11487472.
Wistow G, Bernstein SL, Ray S, et al. (2002). "Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium". Mol. Vis. 8: 185–95. PMID 12107412.
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.
Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
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.
Lu B, Jiang YJ, Zhou Y, et al. (2005). "Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPARα in murine heart". Biochem. J. 385 (Pt 2): 469–77. doi:10.1042/BJ20041348. PMC 1134718. PMID 15367102.
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.
Agarwal AK, Barnes RI, Garg A (2006). "Functional characterization of human 1-acylglycerol-3-phosphate acyltransferase isoform 8: cloning, tissue distribution, gene structure, and enzymatic activity". Arch. Biochem. Biophys. 449 (1–2): 64–76. doi:10.1016/j.abb.2006.03.014. PMID 16620771.
Hu YH, Warnatz HJ, Vanhecke D, et al. (2006). "Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins". BMC Genomics. 7: 155. doi:10.1186/1471-2164-7-155. PMC 1526728. PMID 16780588.

Vanjski linkovi

Lokacija ljudskog genoma AGPAT3 i stranica sa detaljima o genu AGPAT3 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160216 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000001211 - 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: AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3".

[allele_ref-6] "International Knockout Mouse Consortium".

[mgi_allele_ref-7] "Mouse Genome Informatics".

[pmid21677750-8] 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-9] Dolgin E (2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-10] 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.

[''Salmonella''_infection-11] "Salmonella infection data for Agpat3". Wellcome Trust Sanger Institute.

[''Citrobacter''_infection-12] "Citrobacter infection data for Agpat3". Wellcome Trust Sanger Institute.

[mgp_reference-13] 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.

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

[pmid21722353-15] 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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