Бета-катенін

CTNNB1 (англ. Catenin beta 1) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 3-ї хромосоми. Довжина поліпептидного ланцюга білка становить 781 амінокислот, а молекулярна маса — 85 497.

CTNNB1
Наявні структури PDB Пошук ортологів: PDBe RCSB Список кодів PDB 1G3J, 1JDH, 1JPW, 1LUJ, 1P22, 1QZ7, 1T08, 1TH1, 2GL7, 2Z6H, 3DIW, 3SL9, 3SLA, 3TX7, 4DJS, 3FQN, 3FQR
Ідентифікатори
Символи	CTNNB1, CTNNB, MRD19, armadillo, catenin beta 1, EVR7, NEDSDV
Зовнішні ІД	OMIM: 116806 MGI: 88276 HomoloGene: 1434 GeneCards: CTNNB1
Пов'язані генетичні захворювання
колоректальний рак, pilomatrixoma, autosomal dominant non-syndromic intellectual disability 19, exudative vitreoretinopathy 7, liver carcinoma, cerebellar medulloblastoma
Онтологія гена Молекулярна функція • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • DNA binding • GO:0001948, GO:0016582 protein binding • SMAD binding • chromatin binding • signal transducer activity • double-stranded DNA binding • protein C-terminus binding • protein kinase binding • kinase binding • androgen receptor binding • transmembrane transporter binding • estrogen receptor binding • I-SMAD binding • protein phosphatase binding • transcription factor binding • GO:0001105 transcription coactivator activity • alpha-catenin binding • enzyme binding • RNA polymerase II core promoter sequence-specific DNA binding • protein heterodimerization activity • cadherin binding • disordered domain specific binding Клітинна компонента • Адгезивні контакти • beta-catenin destruction complex • protein-DNA complex • lamellipodium • beta-catenin-TCF complex • beta-catenin-TCF7L2 complex • центросома • Z disc • bicellular tight junction • transcription regulator complex • lateral plasma membrane • цитоплазма • cell cortex • apical part of cell • spindle pole • Scrib-APC-beta-catenin complex • catenin-TCF7L2 complex • flotillin complex • intercalated disc • клітинне ядро • cell-cell junction • мембрана • Wnt signalosome • basolateral plasma membrane • клітинна мембрана • цитоскелет • екзосома • нуклеоплазма • центр організації мікротрубочок • cell periphery • apical junction complex • cell projection membrane • focal adhesion • microvillus membrane • fascia adherens • гіалоплазма • міжклітинні контакти • perinuclear region of cytoplasm • catenin complex • синапс • внутрішньоклітинний • GO:0009327 protein-containing complex • presynaptic membrane • cell projection • postsynaptic membrane • Schaffer collateral - CA1 synapse • presynaptic active zone cytoplasmic component • postsynaptic density, intracellular component Біологічний процес • embryonic brain development • negative regulation of cell population proliferation • renal vesicle formation • positive regulation of MAPK cascade • proximal/distal pattern formation • positive regulation of neuroblast proliferation • chemical synaptic transmission • central nervous system vasculogenesis • renal inner medulla development • transcription, DNA-templated • positive regulation of neuron apoptotic process • canonical Wnt signaling pathway • embryonic foregut morphogenesis • endoderm formation • endodermal cell fate commitment • synapse organization • trachea formation • GO:0006928 клітинний процес • positive regulation of telomere maintenance via telomerase • neural plate development • negative regulation of protein sumoylation • lung cell differentiation • васкулогенез • lung induction • кровотворення • розвиток нирки • GO:1901313 positive regulation of gene expression • adherens junction organization • renal outer medulla development • thymus development • regulation of myelination • positive regulation of cell population proliferation • epithelial tube branching involved in lung morphogenesis • кісткова резорбція • epithelial cell differentiation involved in prostate gland development • regulation of euchromatin binding • hair follicle morphogenesis • hair follicle placode formation • neuron migration • negative regulation of chondrocyte differentiation • fungiform papilla formation • positive regulation of type I interferon production • negative regulation of mitotic cell cycle, embryonic • ectoderm development • trachea morphogenesis • T cell differentiation in thymus • pancreas development • cranial ganglion development • regulation of apoptotic process • lung development • positive regulation of skeletal muscle tissue development • synaptic vesicle transport • positive regulation of telomerase activity • morphogenesis of embryonic epithelium • renal system development • oocyte development • hair cycle process • embryonic axis specification • embryonic forelimb morphogenesis • anterior/posterior axis specification • positive regulation of endothelial cell differentiation • GO:0044324, GO:0003256, GO:1901213, GO:0046019, GO:0046020, GO:1900094, GO:0061216, GO:0060994, GO:1902064, GO:0003258, GO:0072212 regulation of transcription by RNA polymerase II • animal organ development • negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis • dorsal/ventral axis specification • positive regulation of muscle cell differentiation • positive regulation of apoptotic process • regulation of protein localization to cell surface • androgen receptor signaling pathway • нейробіологія розвитку • forebrain development • hair cell differentiation • GO:1901227 negative regulation of transcription by RNA polymerase II • regulation of epithelial cell differentiation • positive regulation of histone H3-K4 methylation • embryonic digit morphogenesis • endothelial tube morphogenesis • osteoclast differentiation • GO:0009373 regulation of transcription, DNA-templated • regulation of osteoclast differentiation • neuron differentiation • Епітеліально-мезенхімальний перехід • cell fate specification • odontogenesis of dentin-containing tooth • midbrain development • positive regulation of mesenchymal cell proliferation • positive regulation of heparan sulfate proteoglycan biosynthetic process • smooth muscle cell differentiation • glial cell fate determination • Детермінація • positive regulation of determination of dorsal identity • regulation of T cell proliferation • gastrulation with mouth forming second • negative regulation of apoptotic signaling pathway • oviduct development • cellular response to growth factor stimulus • male genitalia development • negative regulation of gene expression • nephron tubule formation • regulation of osteoblast differentiation • regulation of angiogenesis • cell morphogenesis involved in differentiation • cell-matrix adhesion • dorsal root ganglion development • regulation of cell population proliferation • embryonic skeletal limb joint morphogenesis • heart development • T cell differentiation • dorsal/ventral pattern formation • layer formation in cerebral cortex • canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation • canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition • positive regulation of osteoblast differentiation • negative regulation of osteoclast differentiation • regulation of core promoter binding • genitalia morphogenesis • negative regulation of neuron death • cell maturation • проліферація • branching involved in ureteric bud morphogenesis • диференціація клітин • protein localization to cell surface • embryonic hindlimb morphogenesis • negative regulation of oligodendrocyte differentiation • metanephros morphogenesis • regulation of centriole-centriole cohesion • limb development • positive regulation of epithelial cell proliferation involved in prostate gland development • regulation of secondary heart field cardioblast proliferation • regulation of fibroblast proliferation • regulation of smooth muscle cell proliferation • skin development • skeletal system development • hindbrain development • regulation of calcium ion import • mesenchymal cell proliferation involved in lung development • regulation of nephron tubule epithelial cell differentiation • cellular response to indole-3-methanol • canonical Wnt signaling pathway involved in negative regulation of apoptotic process • регуляція експресії генів • регуляція диференціювання клітин • stem cell population maintenance • regulation of neurogenesis • in utero embryonic development • lung-associated mesenchyme development • negative regulation of cell differentiation • positive regulation of I-kappaB kinase/NF-kappaB signaling • vasculature development • sympathetic ganglion development • positive regulation of epithelial cell differentiation • positive regulation of branching involved in lung morphogenesis • lens morphogenesis in camera-type eye • positive regulation of epithelial to mesenchymal transition • positive regulation of fibroblast growth factor receptor signaling pathway • embryonic heart tube development • regulation of centromeric sister chromatid cohesion • positive regulation of DNA-templated transcription, initiation • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • branching involved in blood vessel morphogenesis • positive regulation of DNA-binding transcription factor activity • адгезія клітин • GO:0045996 negative regulation of transcription, DNA-templated • adherens junction assembly • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • Wnt signaling pathway, calcium modulating pathway • beta-catenin-TCF complex assembly • beta-catenin destruction complex disassembly • cranial skeletal system development • proteasome-mediated ubiquitin-dependent protein catabolic process • Wnt signaling pathway • canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation • response to estradiol • midbrain dopaminergic neuron differentiation • entry of bacterium into host cell • negative regulation of oxidative stress-induced neuron death • positive regulation of core promoter binding • GO:0022415 viral process • negative regulation of angiogenesis • negative regulation of epithelial cell differentiation • negative regulation of apoptotic process • positive regulation of molecular function • positive regulation of epithelial cell proliferation • negative regulation of neurogenesis • regulation of timing of anagen • regulation of canonical Wnt signaling pathway • synaptic vesicle clustering • cell-cell adhesion • neuron projection extension • positive regulation of neural precursor cell proliferation • protein polyubiquitination • tissue homeostasis Джерела:Amigo / QuickGO
Шаблон експресії
Більше даних
Ортологи
Види	Людина	Миша
Entrez	1499	12387
Ensembl	ENSG00000168036	ENSMUSG00000006932
UniProt	P35222	Q02248
RefSeq (мРНК)	NM_001098209 NM_001098210 NM_001904 NM_001330729	NM_001165902 NM_007614
RefSeq (білок)	NP_001091679 NP_001091680 NP_001317658 NP_001895	NP_001159374 NP_031640
Локус (UCSC)	Хр. 3: 41.19 – 41.26 Mb	Хр. 9: 120.76 – 120.79 Mb
PubMed search
Вікідані
Див./Ред. для людей Див./Ред. для мишей

Послідовність амінокислот

10		20		30		40		50
MATQADLMEL		DMAMEPDRKA		AVSHWQQQSY		LDSGIHSGAT		TTAPSLSGKG
NPEEEDVDTS		QVLYEWEQGF		SQSFTQEQVA		DIDGQYAMTR		AQRVRAAMFP
ETLDEGMQIP		STQFDAAHPT		NVQRLAEPSQ		MLKHAVVNLI		NYQDDAELAT
RAIPELTKLL		NDEDQVVVNK		AAVMVHQLSK		KEASRHAIMR		SPQMVSAIVR
TMQNTNDVET		ARCTAGTLHN		LSHHREGLLA		IFKSGGIPAL		VKMLGSPVDS
VLFYAITTLH		NLLLHQEGAK		MAVRLAGGLQ		KMVALLNKTN		VKFLAITTDC
LQILAYGNQE		SKLIILASGG		PQALVNIMRT		YTYEKLLWTT		SRVLKVLSVC
SSNKPAIVEA		GGMQALGLHL		TDPSQRLVQN		CLWTLRNLSD		AATKQEGMEG
LLGTLVQLLG		SDDINVVTCA		AGILSNLTCN		NYKNKMMVCQ		VGGIEALVRT
VLRAGDREDI		TEPAICALRH		LTSRHQEAEM		AQNAVRLHYG		LPVVVKLLHP
PSHWPLIKAT		VGLIRNLALC		PANHAPLREQ		GAIPRLVQLL		VRAHQDTQRR
TSMGGTQQQF		VEGVRMEEIV		EGCTGALHIL		ARDVHNRIVI		RGLNTIPLFV
QLLYSPIENI		QRVAAGVLCE		LAQDKEAAEA		IEAEGATAPL		TELLHSRNEG
VATYAAAVLF		RMSEDKPQDY		KKRLSVELTS		SLFRTEPMAW		NETADLGLDI
GAQGEPLGYR		QDDPSYRSFH		SGGYGQDALG		MDPMMEHEMG		GHHPGADYPV
DGLPDLGHAQ		DLMDGLPPGD		SNQLAWFDTD		L

A: Аланін
C: Цистеїн
D: Аспарагінова кислота
E: Глутамінова кислота
F: Фенілаланін
G: Гліцин
H: Гістидин
I: Ізолейцин
K: Лізин
L: Лейцин
M: Метіонін
N: Аспарагін
P: Пролін
Q: Глутамін
R: Аргінін
S: Серин
T: Треонін
V: Валін
W: Триптофан

Y: Тирозин

Кодований геном білок за функціями належить до активаторів, фосфопротеїнів. Задіяний у таких біологічних процесах як клітинна адгезія, транскрипція, регуляція транскрипції, нейрогенез, сигнальний шлях Wnt, поліморфізм, ацетиляція, альтернативний сплайсинг. Локалізований у клітинній мембрані, цитоплазмі, цитоскелеті, ядрі, мембрані, клітинних контактах, синапсах.

Література

• Huelsken J., Birchmeier W., Behrens J. (1994). E-cadherin and APC compete for the interaction with beta-catenin and the cytoskeleton. J. Cell Biol. 127: 2061—2069. PMID 7806582 DOI:10.1083/jcb.127.6.2061
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
• Butz S., Kemler R. (1994). Distinct cadherin-catenin complexes in Ca(2+)-dependent cell-cell adhesion. FEBS Lett. 355: 195—200. PMID 7982500 DOI:10.1016/0014-5793(94)01205-9
• Mueller T., Choidas A., Reichmann E., Ullrich A. (1999). Phosphorylation and free pool of beta-catenin are regulated by tyrosine kinases and tyrosine phosphatases during epithelial cell migration. J. Biol. Chem. 274: 10173—10183. PMID 10187801 DOI:10.1074/jbc.274.15.10173
• Moreno-Bueno G., Gamallo C., Perez-Gallego L., Contreras F., Palacios J. (2001). Beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. Br. J. Dermatol. 145: 576—581. PMID 11703283 DOI:10.1046/j.1365-2133.2001.04455.x
• Tutter A.V., Fryer C.J., Jones K.A. (2001). Chromatin-specific regulation of LEF-1-beta-catenin transcription activation and inhibition in vitro. Genes Dev. 15: 3342—3354. PMID 11751639 DOI:10.1101/gad.946501

Примітки

1. Захворювання, генетично пов'язані з CTNNB1 переглянути/редагувати посилання на ВікіДаних.
2. Human PubMed Reference:.
3. Mouse PubMed Reference:.
4. (англ.) . Архів оригіналу за 26 березня 2016. Процитовано 30 серпня 2017.
5. (англ.) . Архів оригіналу за 29 серпня 2017. Процитовано 30 серпня 2017.

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• Хромосома 3