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
	326
	n/a
	ENSG00000160224
	n/a
	O43918
	n/a
	NM_000383; NM_000658; NM_000659
	n/a
	NP_000374
	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.^[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 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 Â« 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.

Cyfeiriadau

[1] "Human PubMed Reference:".

[2] AIRE - Cronfa NCBI

[2]

[1]