HUWE1

HUWE1
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2EKK, 3G1N, 3H1D, 2MUL
Dynodwyr
Cyfenwau	HUWE1, ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MULE, URE-B1, UREB1, HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase, HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1, MRXST
Dynodwyr allanol	OMIM: 300697 HomoloGene: 45994 GeneCards: HUWE1
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • GO:0001948, GO:0016582 protein binding • GO:0050372 ubiquitin-protein transferase activity • RNA binding • transferase activity • GO:1904264, GO:1904822, GO:0090622, GO:0090302 ubiquitin protein ligase activity Cydrannau o'r gell • cytoplasm • extracellular exosome • bilen • nucleoplasm • extracellular region • cytosol • secretory granule lumen • ficolin-1-rich granule lumen • cnewyllyn cell Prosesau biolegol • cellular response to DNA damage stimulus • cell differentiation • protein monoubiquitination • histone ubiquitination • GO:0100026 DNA repair • protein ubiquitination • base-excision repair • positive regulation of protein targeting to mitochondrion • protein polyubiquitination • neutrophil degranulation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	10075	n/a
Ensembl	ENSG00000086758	n/a
UniProt	Q7Z6Z7	n/a
RefSeq (mRNA)	NM_031407	n/a
RefSeq (protein)	NP_113584	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 HUWE1 yw HUWE1 a elwir hefyd yn HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase (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 X dynol, band Xp11.22.

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 HUWE1.

• MULE
• Ib772
• LASU1
• UREB1
• HECTH9
• URE-B1
• ARF-BP1
• HSPC272

Llyfryddiaeth

• "Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability. ". J Hum Genet. 2015. PMID 25652354.
• "Shh signaling protects Atoh1 from degradation mediated by the E3 ubiquitin ligase Huwe1 in neural precursors. ". Dev Cell. 2014. PMID 24960692.
• "Huwe1 Sustains Normal Ovarian Epithelial Cell Transformation and Tumor Growth through the Histone H1.3-H19Cascade. ". Cancer Res. 2017. PMID 28687618.
• "The ubiquitin ligase Huwe1 regulates the maintenance and lymphoid commitment of hematopoietic stem cells. ". Nat Immunol. 2016. PMID 27668798.
• "HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.". BMJ Open. 2016. PMID 27130160.