FRG1

FRG1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	2YUG
Identifikatori
Aliasi	FRG1
Vanjski ID-jevi	OMIM: 601278 MGI: 893597 HomoloGene: 3295 GeneCards: FRG1
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	189,963,202 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	41,870,111 bp
Ontologija gena
Molekularna funkcija	• actin binding; • GO:0001948, GO:0016582 vezivanje za proteine; • actin filament binding; • vezivanje sa RNK;
Ćelijska komponenta	• citoplazma; • Cajal body; • catalytic step 2 spliceosome; • spliceosomal complex; • Z discdkac; • jedro; • striated muscle dense body; • Jedarce;
Biološki proces	• rRNA processing; • mRNA splicing, via spliceosome; • muscle organ development; • mRNA processing; • ribosome biogenesis; • Prerada RNK;
	Izvori:Amigo / QuickGO
Ortolozi
	2483
	14300
	ENSG00000275145; ENSG00000283153; ENSG00000109536; ENSG00000283630
	ENSMUSG00000031590
	Q14331
	P97376
	NM_004477
	NM_013522
	NP_004468
	NP_038550
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Protein FRG1 jest aktinski protein koji je kod ljudi kodiran genom FRG1 sa hromosoma 4.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 258 aminokiselina, а molekulska težina 29.172 Da.^[8].

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
MAEYSYVKST	KLVLKGTKTK	SKKKKSKDKK	RKREEDEETQ	LDIVGIWWTV
TNFGEISGTI	AIEMDKGTYI	HALDNGLFTL	GAPHKEVDEG	PSPPEQFTAV
KLSDSRIALK	SGYGKYLGIN	SDGLVVGRSD	AIGPREQWEP	VFQNGKMALL
ASNSCFIRCN	EAGDIEAKSK	TAGEEEMIKI	RSCAERETKK	KDDIPEEDKG
NVKQCEINYV	KKFQSFQDHK	LKISKEDSKI	LKKARKDGFL	HETLLDRRAK
LKADRYCK

Funkcija

Ovaj gen nalazi se na lokaciju od 100 kb centromernih ponavljajućih jedinica na hromosomskoj regiji 4q35 koje su izgubljene u facioskapulohumerusnoj mišićnoj distrofiji (FSHD). Evolucijski je konzerviran^[9] i ima srodne sekvence na više ljudskih hromosoma, ali analiza sekvence DNK nije otkrila nikakvu homologiju sa poznatim genima. Studije in vivo pokazuju da se kodirani protein nalazi na nukleolusu.^[7] Miševi koji prekomjerno eksprimiraju FRG1 pokazuju facioskapulohumerusnu mišićnu distrofiju. Gabellili et al. sugeriraju da je ljudska facioskapulohumerusna mišićna distrofija rezultat prekomjerne ekspresije FRG1 u "skeletnim mišićima, što dovodi do abnormalne alternativne prerade specifičnih pre-iRNK."^[10] Ovaj rezultat je repliciran kod punoglavaca.^[11]

Reference

^ ^a ^b ^c ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031590 - 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.
^ Liu, Qian; Jones, Takako Iida; Tang, Vivian W.; Brieher, William M.; Jones, Peter L. (1. 4. 2010). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (7): 1116–1123. doi:10.1242/jcs.058958. ISSN 0021-9533. PMC 2844320. PMID 20215405.
^ van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID 8733123.
^ ^a ^b "Entrez Gene: FRG1 FSHD region gene 1".
^ "UniProt, Q14331" (jezik: engleski). Pristupljeno 28. 10. 2021.
^ Grewal, Prabhjit K.; Carim Todd, Laura; Van Der Maarel, Silvere; Frants, Rune R.; Hewitt, Jane E. (17. 8. 1998). "FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates". Gene (jezik: engleski). 216 (1): 13–19. doi:10.1016/S0378-1119(98)00334-5. ISSN 0378-1119. PMID 9714712.
^ Gabellini, Davide; D'Antona, Giuseppe; Moggio, Maurizio; Prelle, Alessandro; Zecca, Chiara; Adami, Raffaella; Angeletti, Barbara; Ciscato, Patrizia; Pellegrino, Maria Antonietta; Bottinelli, Roberto; Green, Michael R. (februar 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature (jezik: engleski). 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. ISSN 1476-4687. PMID 16341202. S2CID 4427465.
^ Hanel, Meredith L.; Wuebbles, Ryan D.; Jones, Peter L. (juni 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. ISSN 1058-8388. PMC 2964887. PMID 19097195.

Dopunska literatura

Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD)". Neuromuscul. Disord. 7 (1): 55–62. doi:10.1016/S0960-8966(96)00400-2. PMID 9132141. S2CID 898623.
van Geel M, Heather LJ, Lyle R, et al. (1999). "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements". Genomics. 61 (1): 55–65. doi:10.1006/geno.1999.5942. PMID 10512680.
Jurica MS, Licklider LJ, Gygi SR, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA. 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
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.
Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. S2CID 23783563.
van Koningsbruggen S, Dirks RW, Mommaas AM, et al. (2004). "FRG1P is localised in the nucleolus, Cajal bodies, and speckles". J. Med. Genet. 41 (4): e46. doi:10.1136/jmg.2003.012781 (neaktivno 31. 5. 2021). PMC 1735742. PMID 15060122.CS1 održavanje: DOI nije aktivan od 2021 (link)
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.
Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
Gabellini D, D'Antona G, Moggio M, et al. (2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–7. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. PMID 16341202. S2CID 4427465.

[refGRCh38Ensembl-1] ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031590 - 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.

[5] Liu, Qian; Jones, Takako Iida; Tang, Vivian W.; Brieher, William M.; Jones, Peter L. (1. 4. 2010). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (7): 1116–1123. doi:10.1242/jcs.058958. ISSN 0021-9533. PMC 2844320. PMID 20215405.

[pmid8733123-6] van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID 8733123.

[entrez-7] "Entrez Gene: FRG1 FSHD region gene 1".

[UniProt-8] "UniProt, Q14331" (jezik: engleski). Pristupljeno 28. 10. 2021.

[9] Grewal, Prabhjit K.; Carim Todd, Laura; Van Der Maarel, Silvere; Frants, Rune R.; Hewitt, Jane E. (17. 8. 1998). "FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates". Gene (jezik: engleski). 216 (1): 13–19. doi:10.1016/S0378-1119(98)00334-5. ISSN 0378-1119. PMID 9714712.

[10] Gabellini, Davide; D'Antona, Giuseppe; Moggio, Maurizio; Prelle, Alessandro; Zecca, Chiara; Adami, Raffaella; Angeletti, Barbara; Ciscato, Patrizia; Pellegrino, Maria Antonietta; Bottinelli, Roberto; Green, Michael R. (februar 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature (jezik: engleski). 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. ISSN 1476-4687. PMID 16341202. S2CID 4427465.

[11] Hanel, Meredith L.; Wuebbles, Ryan D.; Jones, Peter L. (juni 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. ISSN 1058-8388. PMC 2964887. PMID 19097195.

[5]

[6]

[7]

[1]

[2]

[3]

[4]

[8]

[9]

[10]

[11]