FBXL4

FBXL4
Identifikatori
Aliasi	FBXL4
Vanjski ID-jevi	OMIM: 605654 MGI: 2140367 HomoloGene: 8128 GeneCards: FBXL4
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	98,948,006 bp
Lokacija gena (miš)
Hrom.	Hromosom 4 (miš)
Kraj	22,434,091 bp
Ontologija gena
Molekularna funkcija	• GO:0050372 aktivnost sa transferazom ubikvitina;
Ćelijska komponenta	• citoplazma; • mitochondrial intermembrane space; • mitohondrija; • jedro; • kompleks ubikvitin-ligaze; • citosol; • nuclear speck; • SCF ubiquitin ligase complex;
Biološki proces	• ubiquitin-dependent protein catabolic process; • protein polyubiquitination; • Posttranslacione modifikacije; • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	26235
	269514
	ENSG00000112234
	ENSMUSG00000040410
	Q9UKA2
	Q8BH70
	NM_001278716; NM_012160
	NM_172988
	NP_001265645; NP_036292
	NP_766576
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

F-kutijski leucinom bogati ponavljani protein 4 jest protein koji je kod ljudi kodiran genom FBXL4.^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 621 aminokiselina, а molekulska težina 70.097 Da.^[6]

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
MSPVFPMLTV	LTMFYYICLR	RRARTATRGE	MMNTHRAIES	NSQTSPLNAE
VVQYAKEVVD	FSSHYGSENS	MSYTMWNLAG	VPNVFPSSGD	FTQTAVFRTY
GTWWDQCPSA	SLPFKRTPPN	FQSQDYVELT	FEQQVYPTAV	HVLETYHPGA
VIRILACSAN	PYSPNPPAEV	RWEILWSERP	TKVNASQARQ	FKPCIKQINF
PTNLIRLEVN	SSLLEYYTEL	DAVVLHGVKD	KPVLSLKTSL	IDMNDIEDDA
YAEKDGCGMD	SLNKKFSSAV	LGEGPNNGYF	DKLPYELIQL	ILNHLTLPDL
CRLAQTCKLL	SQHCCDPLQY	IHLNLQPYWA	KLDDTSLEFL	QSRCTLVQWL
NLSWTGNRGF	ISVAGFSRFL	KVCGSELVRL	ELSCSHFLNE	TCLEVISEMC
PNLQALNLSS	CDKLPPQAFN	HIAKLCSLKR	LVLYRTKVEQ	TALLSILNFC
SELQHLSLGS	CVMIEDYDVI	ASMIGAKCKK	LRTLDLWRCK	NITENGIAEL
ASGCPLLEEL	DLGWCPTLQS	STGCFTRLAH	QLPNLQKLFL	TANRSVCDTD
IDELACNCTR	LQQLDILGTR	MVSPASLRKL	LESCKDLSLL	DVSFCSQIDN
RAVLELNASF	PKVFIKKSFT	Q

Struktura

Ovaj gen kodira člana porodice proteina F-kutije koju karakterizira približno 40 aminokiselinskih F-kutijskih motiva. Proteini F-kutije čine jednu od četiri podjedinice kompleksa ubikvitin protein-ligaze pod nazivom SCF-i (SKP1-kulin-F-kutija), koji sveprisutno funkcioniraju ovisno o fosforilaciji. Proteini F-boks-a podijeljeni su u tri klase: Fbws koji sadrže WD-40 domene, Fbls koji sadrže ponavljanje bogato leucinom i Fbx koji sadrže ili različite module interakcije protein-protein ili bez prepoznatljivih motiva. Protein kodiran ovim genom pripada klasi Fbls i, osim F-kutije, sadrži najmanje devet tandemskih ponavljanja bogatih leucinom.^[5]

Klinički značaj

Mutacije u ovom genu uzrokuju mitohondrijsku encefalomiopatiju s ranim početkom.^[7]^[8]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112234 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040410 - 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 "Entrez Gene: F-box and leucine-rich repeat protein 4".
^ "UniProt, Q9UKA2" (jezik: engleski). Pristupljeno 8. 10. 2021.
^ Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M (Sep 2013). "Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy". American Journal of Human Genetics. 93 (3): 482–95. doi:10.1016/j.ajhg.2013.07.016. PMC 3769923. PMID 23993194.
^ Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW (Sep 2013). "Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance". American Journal of Human Genetics. 93 (3): 471–81. doi:10.1016/j.ajhg.2013.07.017. PMC 3769921. PMID 23993193.

Dopunska literatura

Ilyin GP, Rialland M, Pigeon C, Guguen-Guillouzo C (Jul 2000). "cDNA cloning and expression analysis of new members of the mammalian F-box protein family". Genomics. 67 (1): 40–7. doi:10.1006/geno.2000.6211. PMID 10945468.
Cenciarelli C, Chiaur DS, Guardavaccaro D, Parks W, Vidal M, Pagano M (Oct 1999). "Identification of a family of human F-box proteins". Current Biology. 9 (20): 1177–9. doi:10.1016/S0960-9822(00)80020-2. PMID 10531035. S2CID 7467493.
Winston JT, Koepp DM, Zhu C, Elledge SJ, Harper JW (Oct 1999). "A family of mammalian F-box proteins". Current Biology. 9 (20): 1180–2. doi:10.1016/S0960-9822(00)80021-4. PMID 10531037. S2CID 14341845.
Van Rechem C, Black JC, Abbas T, Allen A, Rinehart CA, Yuan GC, Dutta A, Whetstine JR (Sep 2011). "The SKP1-Cul1-F-box and leucine-rich repeat protein 4 (SCF-FbxL4) ubiquitin ligase regulates lysine demethylase 4A (KDM4A)/Jumonji domain-containing 2A (JMJD2A) protein". The Journal of Biological Chemistry. 286 (35): 30462–70. doi:10.1074/jbc.M111.273508. PMC 3162406. PMID 21757720.
Kipreos ET, Pagano M (2000). "The F-box protein family". Genome Biology. 1 (5): REVIEWS3002. doi:10.1186/gb-2000-1-5-reviews3002. PMC 138887. PMID 11178263.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000112234 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000040410 - 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: F-box and leucine-rich repeat protein 4".

[UniProt-6] "UniProt, Q9UKA2" (jezik: engleski). Pristupljeno 8. 10. 2021.

[pmid23993194-7] Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M (Sep 2013). "Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy". American Journal of Human Genetics. 93 (3): 482–95. doi:10.1016/j.ajhg.2013.07.016. PMC 3769923. PMID 23993194.

[8] Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW (Sep 2013). "Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance". American Journal of Human Genetics. 93 (3): 471–81. doi:10.1016/j.ajhg.2013.07.017. PMC 3769921. PMID 23993193.

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