UBE2A

UBE2A
Dynodwyr
Cyfenwau	UBE2A, HHR6A, MRXS30, MRXSN, RAD6A, UBC2, ubiquitin conjugating enzyme E2 A
Dynodwyr allanol	OMIM: 312180 HomoloGene: 68308 GeneCards: UBE2A
Patrwm RNA pattern
	; ;
	Rhagor o gyfeiriadau
Ontoleg y genyn
Gweithrediad moleciwlaidd	• transferase activity; • nucleotide binding; • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity; • GO:0050372 ubiquitin-protein transferase activity; • GO:0001948, GO:0016582 protein binding; • ATP binding; • ubiquitin binding; • ubiquitin protein ligase binding; • ubiquitin conjugating enzyme activity;
Cydrannau o'r gell	• cytoplasm; • cytosol; • HULC complex; • nucleoplasm; • chromatin; • XY body;
Prosesau biolegol	• histone H2A ubiquitination; • postreplication repair; • ubiquitin-dependent protein catabolic process; • protein polyubiquitination; • cellular response to DNA damage stimulus; • protein K11-linked ubiquitination; • protein K48-linked ubiquitination; • positive regulation of cell population proliferation; • response to UV; • GO:0100026 DNA repair; • proteasome-mediated ubiquitin-dependent protein catabolic process; • protein autoubiquitination; • protein ubiquitination; • in utero embryonic development; • maternal process involved in female pregnancy; • GO:0031497, GO:0006336, GO:0034724, GO:0001301, GO:0007580, GO:0034652, GO:0010847 chromatin organization; • blastocyst hatching;
	Sources:Amigo / QuickGO
Orthologau
	7319
	n/a
	ENSG00000077721
	n/a
	P49459
	n/a
	NM_181777; NM_001282161; NM_003336; NM_181762
	n/a
	NP_001269090; NP_003327; NP_861427
	n/a
	Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn UBE2A yw UBE2A a elwir hefyd yn Ubiquitin conjugating enzyme E2 A (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 X dynol, band Xq24.^[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 UBE2A.

UBC2
HHR6A
MRXSN
RAD6A
MRXS30

Llyfryddiaeth

"UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome. ". Am J Hum Genet. 2006. PMID 16909393.
"RAD6 promotes DNA repair and stem cell signaling in ovarian cancer and is a promising therapeutic target to prevent and treat acquired chemoresistance. ". Oncogene. 2017. PMID 28806395.
"UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. ". Am J Med Genet A. 2015. PMID 25287747.
"UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients. ". Am J Med Genet A. 2010. PMID 21108393.
"Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.". Clin Genet. 2010. PMID 20412111.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] UBE2A - Cronfa NCBI

[1]

[2]