PSMG1

PSMG1
Identifikatori
Aliasi	PSMG1
Vanjski ID-jevi	OMIM: 605296 MGI: 1860263 HomoloGene: 2759 GeneCards: PSMG1
Lokacija gena (čovjek)
Hrom.	Hromosom 21 (čovjek)
Kraj	39,183,488 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	95,792,160 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine; • proteasome binding;
Ćelijska komponenta	• citoplazma; • Golđijev aparat; • Endoplazmatski retikulum; • jedro; • nukleoplazma; • citosol;
Biološki proces	• cerebellar granule cell precursor proliferation; • proteasome assembly; • proteasome core complex assembly;
	Izvori:Amigo / QuickGO
Ortolozi
	8624
	56088
	ENSG00000183527
	ENSMUSG00000022913
	O95456
	Q9JK23
	NM_001261824; NM_003720; NM_203433; NM_001320795
	NM_019537
	NP_001248753; NP_001307724; NP_003711; NP_982257
	NP_062410
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Proteasomski sklop šaperona 1 jest protein koji je kod ljudi kodiran genom PSMG1 sa hromosoma 21.^[5]^[6]^[7]

U jednoj studiji iz identificirani su i okarakterizirani geni iz EST2-HMG14 regije iz ljudskog hromosoma 21 koji su potencijalno odgovorni za neka od obilježja Downovog sindroma (DS). Sekvenciranje genomskog uzorka sa kozmidnim klonom A1047 koji se nalazi u ETS2-HMG14 regiji hromosoma 21 dovelo je do identifikacije i sekvenciranja nove cDNK od 1.080 bp. Ova cDNK sadrži potencijalni otvoreni okvir čitanja od 867 bp koji predviđa protein od 288 aminokiselina bogat leucinom sa molekulskom težinom od 32,8 kD.

Northern blot i RT-PCR analiza pokazuju da je ekspresija ovog novog gena visoka u sjemenicima i u ljudskojoj leukemijskoj T-ćelijskoj liniji Jurkat i niža u drugim tkivima, uključujući sva proučavana fetusna tkiva. Nazvali smo ovaj novi gen c21-LRP (protein bogat leucinom hromosoma 21) i, zbog svoje lokacije u DS-2 regiji, mogao bi biti kandidat za neke od anomalija DS. Eksperimenti mapiranja suzili su lokaciju c21-LRP gena između markera D21S343 i D21S268 iz hromozoma 21. Analiza c21-LRP proteina predviđa dvije transmembranske spirale i otkriva nekoliko znakova i potencijalnih homologija s poznatim proteinima koji upućuju na nekoliko potencijalnih uloga za ovaj protein.^[8]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 288 aminokiselina, a molekulska težina 32 854 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
MAATFFGEVV	KAPCRAGTED	EEEEEEGRRE	TPEDREVRLQ	LARKREVRLL
RRQTKTSLEV	SLLEKYPCSK	FIIAIGNNAV	AFLSSFVMNS	GVWEEVGCAK
LWNEWCRTTD	TTHLSSTEAF	CVFYHLKSNP	SVFLCQCSCY	VAEDQQYQWL
EKVFGSCPRK	NMQITILTCR	HVTDYKTSES	TGSLPSPFLR	ALKTQNFKDS
ACCPLLEQPN	IVHDLPAAVL	SYCQVWKIPA	ILYLCYTDVM	KLDLITVEAF
KPILSTRSLK	GLVKNIPQST	EILKKLMTTN	EIQSNIYT

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183527 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022913 - 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.
^ Vidal-Taboada JM, Lu A, Pique M, Pons G, Gil J, Oliva R (Jul 2000). "Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation". Biochem Biophys Res Commun. 272 (1): 156–63. doi:10.1006/bbrc.2000.2726. PMID 10872820.
^ Hirano Y, Hayashi H, Iemura S, Hendil KB, Niwa S, Kishimoto T, Kasahara M, Natsume T, Tanaka K, Murata S (Dec 2006). "Cooperation of multiple chaperones required for the assembly of mammalian 20S proteasomes". Mol Cell. 24 (6): 977–84. doi:10.1016/j.molcel.2006.11.015. PMID 17189198.
^ ^a ^b "Entrez Gene: DSCR2 Down syndrome critical region gene 2".
^ Vidal-Taboada JM, Sanz S, Egeo A, et al. (1998). "Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein". Biochem. Biophys. Res. Commun. 250 (3): 547–54. doi:10.1006/bbrc.1998.9352. PMID 9784380.

Dopunska literatura

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.
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.
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.
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.
Possik PA, Sommer CA, Issa Hori J, et al. (2005). "DSCR2, a Down syndrome critical region protein, is localized to the endoplasmic reticulum of mammalian cells". European Journal of Histochemistry. 48 (3): 267–72. PMID 15590417.
Vesa J, Brown Y, Greenfield D, Korenberg JR (2005). "Molecular and cellular characterization of the Down syndrome critical region protein 2". Biochem. Biophys. Res. Commun. 328 (1): 235–42. doi:10.1016/j.bbrc.2004.09.226. PMID 15670775.
Hirano Y, Hendil KB, Yashiroda H, et al. (2005). "A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes". Nature. 437 (7063): 1381–5. Bibcode:2005Natur.437.1381H. doi:10.1038/nature04106. PMID 16251969. S2CID 4424913.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000183527 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022913 - 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.

[pmid10872820-5] Vidal-Taboada JM, Lu A, Pique M, Pons G, Gil J, Oliva R (Jul 2000). "Down syndrome critical region gene 2: expression during mouse development and in human cell lines indicates a function related to cell proliferation". Biochem Biophys Res Commun. 272 (1): 156–63. doi:10.1006/bbrc.2000.2726. PMID 10872820.

[pmid17189198-6] Hirano Y, Hayashi H, Iemura S, Hendil KB, Niwa S, Kishimoto T, Kasahara M, Natsume T, Tanaka K, Murata S (Dec 2006). "Cooperation of multiple chaperones required for the assembly of mammalian 20S proteasomes". Mol Cell. 24 (6): 977–84. doi:10.1016/j.molcel.2006.11.015. PMID 17189198.

[entrez-7] "Entrez Gene: DSCR2 Down syndrome critical region gene 2".

[8] Vidal-Taboada JM, Sanz S, Egeo A, et al. (1998). "Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine-rich protein". Biochem. Biophys. Res. Commun. 250 (3): 547–54. doi:10.1006/bbrc.1998.9352. PMID 9784380.

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