| Tag |
Content |
| WERAM ID |
WERAM-Hos-0171 |
| Ensembl Protein ID |
ENSP00000291582.5 |
| Uniprot Accession |
O43918; AIRE_HUMAN; B2RP50; O43922; O43932; O75745
|
| Genbank Protein ID |
NP_000374.1
|
| Protein Name |
Autoimmune regulator |
| Genbank Nucleotide ID |
NM_000383.3
|
| Gene Name |
AIRE;APECED |
| Ensembl Information |
|
| Details |
| Type |
Family |
Domain |
Substrates |
AA |
References (PMIDs) |
| Me_Reader |
PHD |
PHD1 |
H3K4me0/3 |
K |
18292755
|
|
| Status |
Reviewed |
| Classification |
| Type |
Family |
E-value |
Score |
Start |
End |
| Me_Reader |
PHD |
7.10e-17 |
63.6 |
298 |
476 |
|
| Organism |
Homo sapiens |
| NCBI Taxa ID |
9606 |
Functional Description
(View)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. |
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.
|
| Domain Profile |
Me_Reader PHD
PHD.txt 3 iClvCgkddegekemvqCdeCddwfHlkCvklplsslpegkswyCpsCk 51
C vC +d+ + +++Cd+C+++fHl C+++pl+++p+g w+C sC
ENSP00000291582.5 298 ECAVC-RDGGE---LICCDGCPRAFHLACLSPPLREIPSG-TWRCSSCL 341
59***.55444...9*************************.*******6 PP
PHD.txt 3 iClvCgkddegekemvqCdeCddwfHlkCvklplsslpegkswyCpsCk 51
C vC d+++ ++ C +C +fH++C+ ++ +s p +C+sC
ENSP00000291582.5 433 RCGVC-GDGTD---VLRCTHCAAAFHWRCHFPAGTSRPGT-GLRCRSCS 476
69999.44444...9******************9999965.6******7 PP
|
Protein 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 545Protein Fasta Sequence
>ENSP00000291582.5|AIRE;APECED|Homo sapiens
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECAVCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEPPVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCVGPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVTPAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPAAPFPS |
Nucleotide Sequence
(Fasta) | AGACGGGCGG GCGCACAGCC GGCGCGGAGG CCCCACAGCC CCGCCGGGAC CCGAGGCCAA 60
GCGAGGGGCT GCCAGTGTCC CGGGACCCAC CGCGTCCGCC CCAGCCCCGG GTCCCCGCGC 120
CCACCCCATG GCGACGGACG CGGCGCTACG CCGGCTTCTG AGGCTGCACC GCACGGAGAT 180
CGCGGTGGCC GTGGACAGCG CCTTCCCACT GCTGCACGCG CTGGCTGACC ACGACGTGGT 240
CCCCGAGGAC AAGTTTCAGG AGACGCTTCA TCTGAAGGAA AAGGAGGGCT GCCCCCAGGC 300
CTTCCACGCC CTCCTGTCCT GGCTGCTGAC CCAGGACTCC ACAGCCATCC TGGACTTCTG 360
GAGGGTGCTG TTCAAGGACT ACAACCTGGA GCGCTATGGC CGGCTGCAGC CCATCCTGGA 420
CAGCTTCCCC AAAGATGTGG ACCTCAGCCA GCCCCGGAAG GGGAGGAAGC CCCCGGCCGT 480
CCCCAAGGCT TTGGTACCGC CACCCAGACT CCCCACCAAG AGGAAGGCCT CAGAAGAGGC 540
TCGAGCTGCC GCGCCAGCAG CCCTGACTCC AAGGGGCACC GCCAGCCCAG GCTCTCAACT 600
GAAGGCCAAG CCCCCCAAGA AGCCGGAGAG CAGCGCAGAG CAGCAGCGCC TTCCACTCGG 660
GAACGGGATT CAGACCATGT CAGCTTCAGT CCAGAGAGCT GTGGCCATGT CCTCCGGGGA 720
CGTCCCGGGA GCCCGAGGGG CCGTGGAGGG GATCCTCATC CAGCAGGTGT TTGAGTCAGG 780
CGGCTCCAAG AAGTGCATCC AGGTTGGCGG GGAGTTCTAC ACTCCCAGCA AGTTCGAAGA 840
CTCCGGCAGT GGGAAGAACA AGGCCCGCAG CAGCAGTGGC CCGAAGCCTC TGGTTCGAGC 900
CAAGGGAGCC CAGGGCGCTG CCCCCGGTGG AGGTGAGGCT AGGCTGGGCC AGCAGGGCAG 960
CGTTCCCGCC CCTCTGGCCC TCCCCAGTGA CCCCCAGCTC CACCAGAAGA ATGAGGACGA 1020
GTGTGCCGTG TGTCGGGACG GCGGGGAGCT CATCTGCTGT GACGGCTGCC CTCGGGCCTT 1080
CCACCTGGCC TGCCTGTCCC CTCCGCTCCG GGAGATCCCC AGTGGGACCT GGAGGTGCTC 1140
CAGCTGCCTG CAGGCAACAG TCCAGGAGGT GCAGCCCCGG GCAGAGGAGC CCCGGCCCCA 1200
GGAGCCACCC GTGGAGACCC CGCTCCCCCC GGGGCTTAGG TCGGCGGGAG AGGAGGTAAG 1260
AGGTCCACCT GGGGAACCCC TAGCCGGCAT GGACACGACT CTTGTCTACA AGCACCTGCC 1320
GGCTCCGCCT TCTGCAGCCC CGCTGCCAGG GCTGGACTCC TCGGCCCTGC ACCCCCTACT 1380
GTGTGTGGGT CCTGAGGGTC AGCAGAACCT GGCTCCTGGT GCGCGTTGCG GGGTGTGCGG 1440
AGATGGTACG GACGTGCTGC GGTGTACTCA CTGCGCCGCT GCCTTCCACT GGCGCTGCCA 1500
CTTCCCAGCC GGCACCTCCC GGCCCGGGAC GGGCCTGCGC TGCAGATCCT GCTCAGGAGA 1560
CGTGACCCCA GCCCCTGTGG AGGGGGTGCT GGCCCCCAGC CCCGCCCGCC TGGCCCCTGG 1620
GCCTGCCAAG GATGACACTG CCAGTCACGA GCCCGCTCTG CACAGGGATG ACCTGGAGTC 1680
CCTTCTGAGC GAGCACACCT TCGATGGCAT CCTGCAGTGG GCCATCCAGA GCATGGCCCG 1740
TCCGGCGGCC CCCTTCCCCT CCTGACCCCA GATGGCCGGG ACATGCAGCT CTGATGAGAG 1800
AGTGCTGAGA AGGACACCTC CTTCCTCAGT CCTGGAAGCC GGCCGGCTGG GATCAAGAAG 1860
GGGACAGCGC CACCTCTTGT CAGTGCTCGG CTGTAAACAG CTCTGTGTTT CTGGGGACAC 1920
CAGCCATCAT GTGCCTGGAA ATTAAACCCT GCCCCACTTC TCTACTCTGG AAGTCCCCGG 1980
GAGCCTCTCC TTGCCTGGTG ACCTACTAAA AATATAAAAA TTAGCTGGGT GTGGTGGTGG 2040
GTGCCTGTAA TCCCAGCTAC ATGGGAGCCT GAGGCATGAG AATCACTTGA ACTCGGGAGG 2100
TGGAGGTTGC AGTGAGCTGA GATTGCGCCA CTGCACTCCA GTCTGGTCGG CAAGAGTGAG 2160
ACTCCGTCTC AAAAACAAAA CAAAACAAAA AAACCACATA ACATAAATTT ATCATCTCGA 2220
CCACTTTTCA GTTCAGTGGC ATTCACATCT CATGTAA
2258Nucleotide Fasta Sequence
>ENSP00000291582.5|PHD|Homo sapiens
AGACGGGCGGGCGCACAGCCGGCGCGGAGGCCCCACAGCCCCGCCGGGACCCGAGGCCAAGCGAGGGGCTGCCAGTGTCCCGGGACCCACCGCGTCCGCCCCAGCCCCGGGTCCCCGCGCCCACCCCATGGCGACGGACGCGGCGCTACGCCGGCTTCTGAGGCTGCACCGCACGGAGATCGCGGTGGCCGTGGACAGCGCCTTCCCACTGCTGCACGCGCTGGCTGACCACGACGTGGTCCCCGAGGACAAGTTTCAGGAGACGCTTCATCTGAAGGAAAAGGAGGGCTGCCCCCAGGCCTTCCACGCCCTCCTGTCCTGGCTGCTGACCCAGGACTCCACAGCCATCCTGGACTTCTGGAGGGTGCTGTTCAAGGACTACAACCTGGAGCGCTATGGCCGGCTGCAGCCCATCCTGGACAGCTTCCCCAAAGATGTGGACCTCAGCCAGCCCCGGAAGGGGAGGAAGCCCCCGGCCGTCCCCAAGGCTTTGGTACCGCCACCCAGACTCCCCACCAAGAGGAAGGCCTCAGAAGAGGCTCGAGCTGCCGCGCCAGCAGCCCTGACTCCAAGGGGCACCGCCAGCCCAGGCTCTCAACTGAAGGCCAAGCCCCCCAAGAAGCCGGAGAGCAGCGCAGAGCAGCAGCGCCTTCCACTCGGGAACGGGATTCAGACCATGTCAGCTTCAGTCCAGAGAGCTGTGGCCATGTCCTCCGGGGACGTCCCGGGAGCCCGAGGGGCCGTGGAGGGGATCCTCATCCAGCAGGTGTTTGAGTCAGGCGGCTCCAAGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGCAAGTTCGAAGACTCCGGCAGTGGGAAGAACAAGGCCCGCAGCAGCAGTGGCCCGAAGCCTCTGGTTCGAGCCAAGGGAGCCCAGGGCGCTGCCCCCGGTGGAGGTGAGGCTAGGCTGGGCCAGCAGGGCAGCGTTCCCGCCCCTCTGGCCCTCCCCAGTGACCCCCAGCTCCACCAGAAGAATGAGGACGAGTGTGCCGTGTGTCGGGACGGCGGGGAGCTCATCTGCTGTGACGGCTGCCCTCGGGCCTTCCACCTGGCCTGCCTGTCCCCTCCGCTCCGGGAGATCCCCAGTGGGACCTGGAGGTGCTCCAGCTGCCTGCAGGCAACAGTCCAGGAGGTGCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGTGGAGACCCCGCTCCCCCCGGGGCTTAGGTCGGCGGGAGAGGAGGTAAGAGGTCCACCTGGGGAACCCCTAGCCGGCATGGACACGACTCTTGTCTACAAGCACCTGCCGGCTCCGCCTTCTGCAGCCCCGCTGCCAGGGCTGGACTCCTCGGCCCTGCACCCCCTACTGTGTGTGGGTCCTGAGGGTCAGCAGAACCTGGCTCCTGGTGCGCGTTGCGGGGTGTGCGGAGATGGTACGGACGTGCTGCGGTGTACTCACTGCGCCGCTGCCTTCCACTGGCGCTGCCACTTCCCAGCCGGCACCTCCCGGCCCGGGACGGGCCTGCGCTGCAGATCCTGCTCAGGAGACGTGACCCCAGCCCCTGTGGAGGGGGTGCTGGCCCCCAGCCCCGCCCGCCTGGCCCCTGGGCCTGCCAAGGATGACACTGCCAGTCACGAGCCCGCTCTGCACAGGGATGACCTGGAGTCCCTTCTGAGCGAGCACACCTTCGATGGCATCCTGCAGTGGGCCATCCAGAGCATGGCCCGTCCGGCGGCCCCCTTCCCCTCCTGACCCCAGATGGCCGGGACATGCAGCTCTGATGAGAGAGTGCTGAGAAGGACACCTCCTTCCTCAGTCCTGGAAGCCGGCCGGCTGGGATCAAGAAGGGGACAGCGCCACCTCTTGTCAGTGCTCGGCTGTAAACAGCTCTGTGTTTCTGGGGACACCAGCCATCATGTGCCTGGAAATTAAACCCTGCCCCACTTCTCTACTCTGGAAGTCCCCGGGAGCCTCTCCTTGCCTGGTGACCTACTAAAAATATAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACATGGGAGCCTGAGGCATGAGAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGTCTGGTCGGCAAGAGTGAGACTCCGTCTCAAAAACAAAACAAAACAAAAAAACCACATAACATAAATTTATCATCTCGACCACTTTTCAGTTCAGTGGCATTCACATCTCATGTAA
|
| Sequence Source |
Ensembl |
| 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:0045060--P:negative thymic T cell selection
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
|
| Orthology |
|
| Created Date |
25-Jun-2016 |
