GATD3A

GATD3A
Identifikatori
Aliasi	GATD3
Vanjski ID-jevi	OMIM: 601659 MGI: 1351861 HomoloGene: 3416 GeneCards: GATD3
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	44,210,114 bp
Lokacija gena (miš)
Hrom.	Hromosom 10 (miš)
Kraj	78,005,616 bp
Obrazac RNK ekspresije
	; ;
	Više referentnih podataka o ekspresiji
Ortolozi
	8209
	28295
	ENSG00000160221
	ENSMUSG00000053329
	F2Z2Q0; H7C1F6
	Q9D172
	NM_004649; NM_198155; NM_001320383; NM_001320384
	NM_138601; NM_001364646
NP_001307312; NP_001307313; NP_004640; NP_937798; NP_001350687;
	NP_001350689; NP_001350690
	NP_613067; NP_001351575
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Mitohondrijski glutamin-amidopeptizoliki protein 3A klase 1 sa domenom jest protein koji je kod ljudi kodiran genom GATD3A sa hromosoma 21.^[5]^[6]

Iako peptidima koji ciljaju mitohondrije nedostaje zajednička konsenzusna sekvenca, nedavno je pronađena određena pristranost u pozicijskoj distribuciji aminokiselina. Ovi obrasci povezani su sa cijepanjem proteinskog prekursora proteazama za obradu matriksa. Pronađni su novi motivi sekvenci koji su konzevirani unutar podgrupa mitohondrijalnih ciljanih peptida. Ovi motivi imaju određene zajedničke teme, što ukazuje da su povezani s cijepanjem jedne proteaze. Dva od konzerviranih obrazaca imaju visoku prediktivnu vrijednost, ali čak i za sekvence koje nemaju ove obrasce, pokazalo se da je moguće prilično precizno predviđanje mjesta cijepanja. Također predlaženo je da se dobro konzervirani obrazac smanjenja RXY (S/A) može koristiti za projektovanje efikasno prepoznatih mjesta cijepanja u necijepljene ili umjetne mitohondrijske ciljane peptide.^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 268 aminokiselina, a molekulska težina 28.170 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
MAAVRVLVAS	RLAAASAFTS	LSPGGRTPSQ	RAALHLSVPR	PAARVALVLS
GCGVYDGTEI	HEASAILVHL	SRGGAEVQIF	APDVPQMHVI	DHTKGQPSEG
ESRNVLTESA	RIARGKITDL	ANLSAANHDA	AIFPGGFGAA	KNLSTFAVDG
KDCKVNKEVE	RVLKEFHQAG	KPIGLCCIAP	VLAAKVLRGV	EVTVGHEQEE
GGKWPYAGTA	EAIKALGAKH	CVKEVVEAHV	DQKNKVVTTP	AFMCETALHY
IHDGIGAMVR	KVLELTGK

Također pogledajte

Glutamin-amidotransferaza

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000160221 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000053329 - 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.
^ Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE (Jun 1997). "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3". Hum Genet. 99 (5): 616–23. doi:10.1007/s004390050416. PMID 9150728. S2CID 22793851.
^ Lafreniere RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA (Mar 1997). "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3". Genomics. 38 (3): 264–72. doi:10.1006/geno.1996.0627. PMID 8975701.
^ ^a ^b "GATD3A glutamine amidotransferase like class 1 domain containing 3A [ Homo sapiens (human) ]".

Dopunska literatura

Hochstrasser DF, Frutiger S, Paquet N, et al. (1993). "Human liver protein map: a reference database established by microsequencing and gel comparison". Electrophoresis. 13 (12): 992–1001. doi:10.1002/elps.11501301201. PMID 1286669. S2CID 23518983.
Nagamine K, Kudoh J, Minoshima S, et al. (1996). "Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3". Biochem. Biophys. Res. Commun. 225 (2): 608–16. doi:10.1006/bbrc.1996.1218. PMID 8753807.
Hillier LD, Lennon G, Becker M, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
Kudoh J, Nagamine K, Asakawa S, et al. (1997). "Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3". DNA Res. 4 (1): 45–52. doi:10.1093/dnares/4.1.45. PMID 9179495.
Nagamine K, Kudoh J, Minoshima S, et al. (1997). "Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21". Genomics. 42 (3): 528–31. doi:10.1006/geno.1997.4761. PMID 9205129.
Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. doi:10.1038/35012518. PMID 10830953.
Yan B, Raben N, Plotz P (2002). "The human acid alpha-glucosidase gene is a novel target of the Notch-1/Hes-1 signaling pathway". J. Biol. Chem. 277 (33): 29760–4. doi:10.1074/jbc.M204721200. PMID 12065598.
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.
Shin JH, Weitzdoerfer R, Fountoulakis M, Lubec G (2004). "Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain". Neurochem. Int. 45 (1): 73–9. doi:10.1016/j.neuint.2003.12.004. PMID 15082224. S2CID 20620865.
Hartman J, Müller P, Foster JS, et al. (2005). "HES-1 inhibits 17beta-estradiol and heregulin-beta1-mediated upregulation of E2F-1". Oncogene. 23 (54): 8826–33. doi:10.1038/sj.onc.1208139. PMID 15467735.
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.

Vanjski linkovi

Lokacija ljudskog genoma C21orf33 i stranica sa detaljima o genu C21orf33 u UCSC Genome Browseru.
Lokacija ljudskog genoma HES1 i stranica sa detaljima o genu HES1 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000160221 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000053329 - 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.

[pmid9150728-5] Scott HS, Chen H, Rossier C, Lalioti MD, Antonarakis SE (Jun 1997). "Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3". Hum Genet. 99 (5): 616–23. doi:10.1007/s004390050416. PMID 9150728. S2CID 22793851.

[pmid8975701-6] Lafreniere RG, Rochefort DL, Kibar Z, Fon EA, Han F, Cochius J, Kang X, Baird S, Korneluk RG, Andermann E, Rommens JM, Rouleau GA (Mar 1997). "Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3". Genomics. 38 (3): 264–72. doi:10.1006/geno.1996.0627. PMID 8975701.

[entrez-7] "GATD3A glutamine amidotransferase like class 1 domain containing 3A [ Homo sapiens (human) ]".

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