RCBTB1

RCC1 i BTB protein 1 sa domenom je protein koji je kod ljudi kodiran genom RCBTB1.

RCBTB1
Identifikatori
Aliasi	RCBTB1
Vanjski ID-jevi	OMIM: 607867 MGI: 1918580 HomoloGene: 10061 GeneCards: RCBTB1
Lokacija gena (miš) Hrom. Hromosom 14 (miš) Bend 14|14 C3 Početak 59,438,658 bp Kraj 59,474,714 bp
Obrazac RNK ekspresije Više referentnih podataka o ekspresiji
Ortolozi
Vrste	Čovjek	Miš
Entrez	55213	71330
Ensembl	ENSG00000136144	ENSMUSG00000035469
UniProt	Q8NDN9	Q6NXM2
RefSeq (mRNK)	NM_018191	NM_027764 NM_001360610 NM_001360611
RefSeq (bjelančevina)	NP_060661 NP_001339429 NP_001339430 NP_001339431 NP_001339432 NP_001339433 NP_001339434 NP_001339435	NP_082040 NP_001347539 NP_001347540
Lokacija (UCSC)	n/a	Chr 14: 59.44 – 59.47 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

Ovaj gen kodira protein s N-terminalnim domenom RCC1 i C-terminalnom BTB (široko kompleksnim) domenom. Kod pacova, prekomjerna ekspresija ovog gena u ćelijama vaskularnih glatkim mišića izazvala je ćelijsku hipertrofiju. U IRPTC-ima, hipertrofijski učinak je preokrenut ekspresijom antisens GLP-a ili dominantno negativnog mutanta, kojem nedostaje posljednjih 101 aminokiselina C-kraja. Angiotenzin II stimulira hipertrofiju pacovskih ćelija u IRPTC, inducirajući ekspresiju GLP-a, ali nije mogao stimulirati hipertrofiju u ćelijama koje eksprimiraju antisens GLP ili dominantno negativni GLP. Hipertrofijski učinak je barem djelimično posredovan aktivacijom protein-kinaze B ili ekspresijom proteina p27 (KIP1).

C-kraj RCBTB1 stupa u interakciju s receptorom za angiotenzin II-1A.

Kod ljudi, ovaj gen lociran je u regiji hrimosoma 3, sekvenca 13q14.2, genomske koordinate 13:49,531,943-49,585,586, koja se često deletira kod oboljelih od u hronične limfocitne anemije B-ćelija i drugim limfoidnim malignostima. ref name="entrez"/> Utvrđeno je da gen RCBTB1 sadrži 13 egzona i da obuhvata 54 kb.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 531 aminokiselina, a molekulska težina 58.252 Da..

10		20		30		40		50
MVDVGKWPIF		TLLSPQEIAS		IRKACVFGTS		ASEALYVTDN		DEVFVFGLNY
SNCLGTGDNQ		STLVPKKLEG		LCGKKIKSLS		YGSGPHVLLS		TEDGVVYAWG
HNGYSQLGNG		TTNQGIAPVQ		VCTNLLIKQV		VEVACGSHHS		MALAADGEVF
AWGYNNCGQV		GSGSTANQPT		PRKVTNCLHI		KRVVGIACGQ		TSSMAVLDNG
EVYGWGYNGN		GQLGLGNNGN		QLTPVRVAAL		HSVCVNQIVC		GYAHTLALTD
EGLLYAWGAN		TYGQLGTGNK		NNLLSPAHIM		VEKERVVEIA		ACHSAHTSAA
KTQGGHVYMW		GQCRGQSVIL		PHLTHFSCTD		DVFACFATPA		VSWRLLSVEH
EDFLTVAESL		KKEFDSPETA		DLKFRIDGKY		IHVHKAVLKI		RCEHFRSMFQ
SYWNEDMKEV		IEIDQFSYPV		YRAFLQYLYT		DTVDLPPEDA		IGLLDLATSY
CENRLKKLCQ		HIIKRGITVE		NAFSLFSAAV		RYDAEDLEEF		CFKFCINHLT
EVTQTAAFWQ		MDGPLLKEFI		AKASKCGAFK		N

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

Fopunska literatutra

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• 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.
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