UQCC

UQCC
Identifikatori
Aliasi	UQCC1
Vanjski ID-jevi	OMIM: 611797 MGI: 1929472 HomoloGene: 14709 GeneCards: UQCC1
Lokacija gena (čovjek)
Hrom.	Hromosom 20 (čovjek)
Kraj	35,412,031 bp
Lokacija gena (miš)
Hrom.	Hromosom 2 (miš)
Kraj	155,772,230 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• mitochondrial inner membrane; • membrana; • mitohondrija; • GO:0016023 citoplazmatska vezikula;
Biološki proces	• mitochondrial respiratory chain complex III assembly; • positive regulation of mitochondrial translation;
	Izvori:Amigo / QuickGO
Ortolozi
	55245
	56046
	ENSG00000101019
	ENSMUSG00000005882
	Q9NVA1
	Q9CWU6
	NM_001184977; NM_018244; NM_199487; NM_199513
	NM_018888; NM_001355441; NM_001355442; NM_001355443
	NP_001171906; NP_060714; NP_955781
	NP_061376; NP_001342370; NP_001342371; NP_001342372
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Ubikvinol-citohrom c reduktazni komplekbni šaperonski homolog CBP3 je enzim koji je kod ljudi kodiran genom UQCC.^[5] Ovaj proteinski enzim ima jednoznačni gen, koji je kod ljudi dugi polipeptidni lancac od 299 aminokislina, molekulske mase od 34 600 kDa.

Podložan je u takvom biološkom procesu, kao što je alternativna prerada RNK. Lokaliziran je u membranama, mitohondrijama, unutrašnjim membranama mitohondrija, citoplazmatskim vezikulama.

Kloniranje i ekspresija[uredi | uredi izvor]

Vetter i Wurst (2001) klonirali su miša Uqcc, kojeg su nazvali Bfzb i identificirali njegov ljudski homolog, analizom baze podataka. Izvedeni ljudski i mišji proteini imaju po jedan transmembranski domen i dijele 94% aminokiselinskog identiteta. fluorescentna in situ hibridizacija mišjih embriona otkrila je Bfzb pretežno u nervnom sistemu u razvoju, s najvećom ekspresijom u proliferirajućim neuroepitelima mozga i nervne cijevi, ganglijama kranijskih živaca V, VII, VIII, IX i X, te ganglijima leđnog korijena. Transkripti su takođe otkriveni kod stvaranja oka i smeđe masti. U mozgu odraslog miša snažna ekspresija bila je ograničena na mirisni bulbus, hipokampus, piriformni korteks i Purkinjeove ćelije malog mozga. Protein Bfzb lokaliziran je u citoplazmatskim vezikulskim strukturama.^[6]

Aminokiselinska sekvenca[uredi | uredi izvor]

Simboli

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
MALLVRVLRN	QTSISQWVPV	CSRLIPVSPT	QGQGDRALSR	TSQWPQMSQS
RACGGSEQIP	GIDIQLNRKY	HTTRKLSTTK	DSPQPVEEKV	GAFTKIIEAM
GFTGPLKYSK	WKIKIAALRM	YTSCVEKTDF	EEFFLRCQMP	DTFNSWFLIT
LLHVWMCLVR	MKQEGRSGKY	MCRIIVHFMW	EDVQQRGRVM	GVNPYILKKN
MILMTNHFYA	AILGYDEGIL	SDDHGLAAAL	WRTFFNRKCE	DPRHLELLVE
YVRKQIQYLD	SMNGEDLLLT	GEVSWRPLVE	KNPQSILKPH	SPTYNDEGL

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000101019 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005882 - 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.
^ "Entrez Gene: C20orf44 chromosome 20 open reading frame 44".
^ Vetter, K., Wurst, W. Expression of a novel mouse gene 'mbFZb' in distinct regions of the developing nervous system and the adult brain. Mech. Dev. 100: 123-125, 2001. [PubMed]: 11118897.

Dopunska literatura[uredi | uredi izvor]

Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Vetter K, Wurst W (2001). "Expression of a novel mouse gene 'mbFZb' in distinct regions of the developing nervous system and the adult brain". Mech. Dev. 100 (1): 123–5. doi:10.1016/S0925-4773(00)00511-6. PMID 11118897. S2CID 16316354.
Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20". Nature. 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
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.
Imabayashi H, Mori T, Gojo S, et al. (2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Exp. Cell Res. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
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.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000101019 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005882 - 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: C20orf44 chromosome 20 open reading frame 44".

[6] Vetter, K., Wurst, W. Expression of a novel mouse gene 'mbFZb' in distinct regions of the developing nervous system and the adult brain. Mech. Dev. 100: 123-125, 2001. [PubMed]: 11118897.

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