CBL

CBL
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1B47, 1FBV, 1YVH, 2CBL, 2JUJ, 2K4D, 2OO9, 2Y1M, 2Y1N, 3BUM, 3BUN, 3BUO, 3BUW, 3BUX, 3OB1, 3OB2, 3PLF, 4A49, 4A4B, 4A4C, 4GPL
Dynodwyr
Cyfenwau	CBL, C-CBL2, FRA11B, NSLL, RNF55, Cbl proto-oncogene
Dynodwyr allanol	OMIM: 165360 HomoloGene: 3802 GeneCards: CBL
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • calcium ion binding • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity • phosphotyrosine residue binding • signal transducer activity • metal ion binding • GO:0050372 ubiquitin-protein transferase activity • GO:0001948, GO:0016582 protein binding • ephrin receptor binding • SH3 domain binding • phosphatidylinositol 3-kinase regulatory subunit binding • transferase activity • receptor tyrosine kinase binding • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity • cadherin binding • epidermal growth factor receptor binding • protein kinase binding • protein tyrosine kinase binding Cydrannau o'r gell • bilen • Cellbilen • cnewyllyn cell • perinuclear region of cytoplasm • flotillin complex • growth cone • cytoplasm • cytosol • focal adhesion • axon • mast cell granule • membrane raft • Golgi apparatus • cilium • cell projection Prosesau biolegol • positive regulation of receptor-mediated endocytosis • negative regulation of epidermal growth factor receptor signaling pathway • epidermal growth factor receptor signaling pathway • negative regulation of apoptotic process • regulation of signaling • fibroblast growth factor receptor signaling pathway • cell surface receptor signaling pathway • protein ubiquitination • positive regulation of phosphatidylinositol 3-kinase signaling • transforming growth factor beta receptor signaling pathway • cellular response to DNA damage stimulus • cellular response to nerve growth factor stimulus • cellular response to platelet-derived growth factor stimulus • positive regulation of epidermal growth factor receptor signaling pathway • GO:0009373 regulation of transcription, DNA-templated • neuron death • cellular response to oxygen-glucose deprivation • response to activity • response to starvation • response to ethanol • protein polyubiquitination • protein monoubiquitination • negative regulation of epidermal growth factor-activated receptor activity • male gonad development • response to gamma radiation • response to testosterone • entry of bacterium into host cell • mast cell degranulation • GO:1904576 response to antibiotic • membrane organization • negative regulation of neuron death • cytokine-mediated signaling pathway • interleukin-6-mediated signaling pathway • ubiquitin-dependent protein catabolic process • GO:0072468 signal transduction • regulation of Rap protein signal transduction • cellular response to epidermal growth factor stimulus • regulation of platelet-derived growth factor receptor-alpha signaling pathway Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	867	n/a
Ensembl	ENSG00000110395	n/a
UniProt	P22681	n/a
RefSeq (mRNA)	NM_005188	n/a
RefSeq (protein)	NP_005179	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn CBL yw CBL a elwir hefyd yn Cbl proto-oncogene (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 11, band 11q23.3.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn CBL.

• CBL2
• NSLL
• C-CBL
• RNF55
• FRA11B

Llyfryddiaeth

• "Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy. ". J Hum Genet. 2016. PMID 26911351.
• "Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. ". Hum Mutat. 2015. PMID 25952305.
• "Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family. ". Hum Genet. 2015. PMID 25939664.
• "Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. ". Am J Med Genet A. 2015. PMID 25358541.
• "Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.". Pediatr Blood Cancer. 2015. PMID 25283271.