| Tag |
Content |
| dbPAF ID |
dbPAF-0001681 |
| Uniprot Accession |
O43918; AIRE_HUMAN; B2RP50; O43922; O43932; O75745;
|
| Genbank Protein ID |
NP_000374.1;
|
| Genbank Nucleotide ID |
NM_000383.3;
|
| Protein Name |
Autoimmune regulator |
| Protein Synonyms/Alias |
Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein;APECED protein; |
| Gene Name |
AIRE |
| Gene Synonyms/Alias |
APECED; |
| Organism |
Homo sapiens(Human) |
| NCBI Taxa ID |
9606 |
Functional Description
(View all) |
Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions.Functional Description
Transcriptional regulator that binds to DNA as a dimer or as a tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motif is a tandem repeat of 5'-. ATTGGTTA-3' combined with a 5'-TTATTA-3' box. Binds to nucleosomes (By similarity). Binds to chromatin and interacts selectively with histone H3 that is not methylated at 'Lys-4', not phosphorylated at 'Thr-3' and not methylated at 'Arg-2'. Functions as a sensor of histone H3 modifications that are important for the epigenetic regulation of gene expression. Functions as a transcriptional activator and promotes the expression of otherwise tissue-specific self-antigens in the thymus, which is important for self tolerance and the avoidance of autoimmune reactions. |
Phosphorylation Sites
|
dbPAF PTMs: 5 |
Sequence
(Fasta) | MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH 60
ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK 120
ALVPPPRLPT KRKASEEARA AAPAALTPRG TASPGSQLKA KPPKKPESSA EQQRLPLGNG 180
IQTMSASVQR AVAMSSGDVP GARGAVEGIL IQQVFESGGS KKCIQVGGEF YTPSKFEDSG 240
SGKNKARSSS GPKPLVRAKG AQGAAPGGGE ARLGQQGSVP APLALPSDPQ LHQKNEDECA 300
VCRDGGELIC CDGCPRAFHL ACLSPPLREI PSGTWRCSSC LQATVQEVQP RAEEPRPQEP 360
PVETPLPPGL RSAGEEVRGP PGEPLAGMDT TLVYKHLPAP PSAAPLPGLD SSALHPLLCV 420
GPEGQQNLAP GARCGVCGDG TDVLRCTHCA AAFHWRCHFP AGTSRPGTGL RCRSCSGDVT 480
PAPVEGVLAP SPARLAPGPA KDDTASHEPA LHRDDLESLL SEHTFDGILQ WAIQSMARPA 540
APFPS
546Fasta Sequence
>O43918|AIRE|Homo sapiens(Human)
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS
|
| Keyword |
KW-0002--3D-structure
KW-0010--Activator
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0903--Direct protein sequencing
KW-0225--Disease mutation
KW-0238--DNA-binding
KW-0479--Metal-binding
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0677--Repeat
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0862--Zinc
KW-0863--Zinc-finger
|
| Interpro |
IPR008087--AIRE
IPR004865--HSR_dom
IPR000770--SAND_dom
IPR010919--SAND_dom-like
IPR019786--Zinc_finger_PHD-type_CS
IPR011011--Znf_FYVE_PHD
IPR001965--Znf_PHD
IPR019787--Znf_PHD-finger
IPR013083--Znf_RING/FYVE/PHD
|
| PROSITE |
PS51414--HSR
PS50864--SAND
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2
|
| Pfam |
PF00628--PHD
PF01342--SAND
PF03172--Sp100
|
| Gene Ontology |
GO:0005737--C:cytoplasm
GO:0005634--C:nucleus
GO:0003682--F:chromatin binding
GO:0042393--F:histone binding
GO:0000977--F:RNA polymerase II regulatory region sequence-specific DNA binding
GO:0003712--F:transcription cofactor activity
GO:0044212--F:transcription regulatory region DNA binding
GO:0001228--F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0045182--F:translation regulator activity
GO:0008270--F:zinc ion binding
GO:0006959--P:humoral immune response
GO:0006955--P:immune response
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0006355--P:regulation of transcription, DNA-templated
GO:0006366--P:transcription from RNA polymerase II promoter
|
