AIRE

AIRE
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 2LRI, 1XWH, 2KE1, 2KFT
Dynodwyr
Cyfenwau	AIRE, AIRE1, APECED, APS1, APSI, PGA1, autoimmune regulator
Dynodwyr allanol	OMIM: 607358 HomoloGene: 327 GeneCards: AIRE
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • DNA binding • RNA polymerase II transcription regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0031493 histone binding • chromatin binding • GO:0001104 transcription coregulator activity • translation regulator activity • metal ion binding • GO:0001948, GO:0016582 protein binding • identical protein binding • zinc ion binding • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific Cydrannau o'r gell • cytoplasm • intracellular anatomical structure • nuclear body • cnewyllyn cell Prosesau biolegol • GO:0009373 regulation of transcription, DNA-templated • transcription, DNA-templated • negative thymic T cell selection • humoral immune response • GO:0046730, GO:0046737, GO:0046738, GO:0046736 immune response • regulation of translation • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II • transcription by RNA polymerase II • peripheral T cell tolerance induction • central tolerance induction to self antigen • chemokine production • GO:0060469, GO:0009371 positive regulation of transcription, DNA-templated • thymus epithelium morphogenesis • regulation of thymocyte migration Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	326	n/a
Ensembl	ENSG00000160224	n/a
UniProt	O43918	n/a
RefSeq (mRNA)	NM_000383 NM_000658 NM_000659	n/a
RefSeq (protein)	NP_000374	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 AIRE yw AIRE a elwir hefyd yn Autoimmune regulator (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 21, band 21q22.3.

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 AIRE.

• APS1
• APSI
• PGA1
• AIRE1
• APECED

Llyfryddiaeth

• "Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism. ". J Clin Endocrinol Metab. 2017. PMID 28323927.
• "Rs3761389 polymorphism in autoimmune regulator (AIRE) gene is associated with susceptibility of myasthenia gravis in Chinese patients. ". J Clin Neurosci. 2017. PMID 28262400.
• "DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes. ". J Biol Chem. 2017. PMID 28242760.
• "[Autoimmune disease predisposition: Aire « protects Â» men]. ". Med Sci (Paris). 2017. PMID 28240208.
• "Unexplained cyanosis caused by hepatopulmonary syndrome in a girl with APECED syndrome.". J Pediatr Endocrinol Metab. 2017. PMID 28222032.