UBE3A

UBE3A
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 4GIZ, 1C4Z, 1D5F, 1EQX, 2KR1
Dynodwyr
Cyfenwau	UBE3A, ANCR, AS, E6-AP, EPVE6AP, HPVE6A, ubiquitin protein ligase E3A, PIX1
Dynodwyr allanol	OMIM: 601623 HomoloGene: 7988 GeneCards: UBE3A
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • metal ion binding • GO:0001105 transcription coactivator activity • GO:0050372 ubiquitin-protein transferase activity • GO:0001948, GO:0016582 protein binding • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity • transferase activity Cydrannau o'r gell • cytosol • proteasome complex • cnewyllyn cell • cytoplasm Prosesau biolegol • ubiquitin-dependent protein catabolic process • prostate gland growth • proses rythmig • proteolysis • positive regulation of phosphatidylinositol 3-kinase signaling • protein K48-linked ubiquitination • GO:0022415 viral process • brain development • regulation of ubiquitin-dependent protein catabolic process • ovarian follicle development • sperm entry • protein ubiquitination • positive regulation of protein ubiquitination • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • protein autoubiquitination • regulation of circadian rhythm • androgen receptor signaling pathway • response to progesterone • progesterone receptor signaling pathway • protein polyubiquitination • proteasome-mediated ubiquitin-dependent protein catabolic process • adwaith i gocên • response to hydrogen peroxide • negative regulation of dendritic spine morphogenesis • cellular response to brain-derived neurotrophic factor stimulus Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	7337	n/a
Ensembl	ENSG00000114062	n/a
UniProt	Q05086	n/a
RefSeq (mRNA)	NM_000462 NM_130838 NM_130839 NM_001354505 NM_001354506 NM_001354509 NM_001354512 NM_001354523 NM_001354526 NM_001354540 NM_001354541 NM_001354543 NM_001354545 NM_001354547 NM_001354549 NM_001354550 NM_001354507 NM_001354508 NM_001354511 NM_001354513 NM_001354538 NM_001354539 NM_001354542 NM_001354544 NM_001354546 NM_001354548 NM_001354551 NM_001374461	n/a
RefSeq (protein)	NP_000453 NP_570853 NP_570854 NP_001341434 NP_001341435 NP_001341438 NP_001341441 NP_001341452 NP_001341455 NP_001341469 NP_001341470 NP_001341472 NP_001341474 NP_001341476 NP_001341478 NP_001341479 NP_001341436 NP_001341437 NP_001341440 NP_001341442 NP_001341467 NP_001341468 NP_001341471 NP_001341473 NP_001341475 NP_001341477 NP_001341480 NP_001361390	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 UBE3A yw UBE3A a elwir hefyd yn Ubiquitin-protein ligase E3A ac Ubiquitin protein ligase E3a (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 15, band 15q11.2.

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 UBE3A.

• AS
• ANCR
• E6-AP
• HPVE6A
• EPVE6AP

Llyfryddiaeth

• "Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature. ". BMC Med Genet. 2017. PMID 29162042.
• "The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome. ". J Biol Chem. 2017. PMID 28559284.
• "Restoration of tumor suppression in prostate cancer by targeting the E3 ligase E6AP. ". Oncogene. 2016. PMID 27641331.
• "The Drosophila melanogaster homolog of UBE3A is not imprinted in neurons. ". Epigenetics. 2016. PMID 27599063.
• "Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.". Res Dev Disabil. 2016. PMID 27323320.