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Basic Information Integrated Annotations

Tag Content
iUUCD ID IUUC-Hsa-046603
UUCD1 version UUC-HoS-00026
Ensembl Protein ID ENSP00000291582.5
UniProt Accession O43918; B2RP50; O43922; O43932; O75745; AIRE_HUMAN
Genbank Protein ID BAA23988.1; BAA23989.1; BAA23990.1; BAA23991.1; BAA23992.1; BAA23993.1; CAB10790.1; CAA08759.1; BAA95560.1; EAX09443.1; AAI37269.1; AAI37271.1
Protein Name Autoimmune regulator; Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein
Genbank Nucleotide ID AB006682; AB006683; AB006684; AB006684; AB006684; AB006685; Z97990; AJ009610; AP001754; AP001060; BC137268; BC137270
Gene Name AIRE; APECED
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000160224.16 ENST00000291582.5 ENSP00000291582.5
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitemicroRNATRANSFAC
TargetScanRepTarmiRcodeRAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
E3 activity/RING/PHD PHD 14734522; 15150263; 15649886
Classification
Family E-value Score Start End
E3 activity/RING/PHD 1.10e-17 65.6 297 342
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD

   S: 2    kvClvCgeggedekslveCekCrewfHpaClklsveeelpnsekwiCpkCrs 53
    + C+vC++gge l++C+ C ++fH aCl+++ +e p+ + w C++C +
   Q: 297 DECAVCRDGGE----LICCDGCPRAFHLACLSPP-LREIPSGT-WRCSSCLQ 342
    57*********....*******************.*******6.******76 PP
   

Organism Homo sapiens
Functional Description
(View)

Functional Description



     Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). 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. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).
Transcription factor playing an essential role to promote self-tolerance in the thymus by regulating the expression of a wide array of self-antigens that have the commonality of being tissue-restricted in their expression pattern in the periphery, called tissue restricted antigens (TRA) (PubMed:26084028). 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. Mainly expressed by medullary thymic epithelial cells (mTECs), induces the expression of thousands of tissue-restricted proteins, which are presented on major histocompatibility complex class I (MHC-I) and MHC-II molecules to developing T-cells percolating through the thymic medulla (PubMed:26084028). Also induces self-tolerance through other mechanisms such as the regulation of the mTEC differentiation program. Controls the medullary accumulation of thymic dendritic cells and the development of regulatory T-cell through the regulation of XCL1 expression. Regulates the production of CCR4 and CCR7 ligands in medullary thymic epithelial cells and alters the coordinated maturation and migration of thymocytes. In thimic B-cells, allows the presentation of licensing-dependent endogenous self-anitgen for negative selection. In secondary lymphoid organs, induces functional inactivation of CD4(+) T-cells. Expressed by a distinct bone marrow-derived population, induces self-tolerance through a mechanism that does not require regulatory T-cells and is resitant to innate inflammatory stimuli (By similarity).
Protein Sequence
(Fasta)
MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH 60
ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK 120
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Protein Fasta Sequence



>IUUC-Hsa-046603|E3,PHD|Homo sapiens
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Nucleotide Sequence
(Fasta)
CGCGGGGGTA TAACAGCGGC GCGCGTGGCT CGCAGACCGG GGAGACGGGC GGGCGCACAG 60
CCGGCGCGGA GGCCCCACAG CCCCGCCGGG ACCCGAGGCC AAGCGAGGGG CTGCCAGTGT 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046603|E3,PHD|Homo sapiens
Please wait for a moment...
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

PF03172--HSR
PF00628--PHD
PF01342--SAND

PRINTS

PR01711--AIREGULATOR

SMART

SM00249--PHD
SM00258--SAND

Gene Ontology

GO:0005737--C:cytoplasm
GO:0016604--C:nuclear body
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:0002509--P:central tolerance induction to self antigen
GO:0032602--P:chemokine production
GO:0006959--P:humoral immune response
GO:0006955--P:immune response
GO:0045060--P:negative thymic T cell selection
GO:0002458--P:peripheral T cell tolerance induction
GO:0045944--P:positive regulation of transcription from RNA polymerase II promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:2000410--P:regulation of thymocyte migration
GO:0006355--P:regulation of transcription, DNA-templated
GO:0097536--P:thymus epithelium morphogenesis

KEGG hsa:326
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-001612 Ailuropoda melanoleuca 75.64 1.00e-169 590.00
IUUC-Aca-004543 Anolis carolinensis 70.97 4.00e-25 105.00
IUUC-Bta-012988 Bos taurus 75.32 0.00e+00 638.00
IUUC-Bci-013636 Botrytis cinerea 26.94 3.00e-11 64.70
IUUC-Bdi-014663 Brachypodium distachyon 53.97 6.00e-14 73.90
IUUC-Cja-019486 Callithrix jacchus 84.29 4.00e-117 414.00
IUUC-Cfa-021069 Canis familiaris 74.41 1.00e-171 596.00
IUUC-Cpo-021649 Cavia porcellus 69.78 7.00e-156 543.00
IUUC-Csa-023960 Chlorocebus sabaeus 92.50 0.00e+00 747.00
IUUC-Dre-028583 Danio rerio 39.71 3.00e-55 209.00
IUUC-Dno-029869 Dasypus novemcinctus 65.65 2.00e-131 462.00
IUUC-Dor-030263 Dipodomys ordii 86.17 1.00e-45 176.00
IUUC-Ete-032778 Echinops telfairi 92.73 5.00e-50 192.00
IUUC-Eca-034328 Equus caballus 75.14 2.00e-167 582.00
IUUC-Fca-035400 Felis catus 70.60 1.00e-162 566.00
IUUC-Fal-036644 Ficedula albicollis 51.99 2.00e-68 253.00
IUUC-Ggo-045250 Gorilla gorilla 98.68 0.00e+00 833.00
IUUC-Hvu-047073 Hordeum vulgare 58.70 2.00e-13 72.40
IUUC-Itr-048977 Ictidomys tridecemlineatus 73.15 1.00e-172 600.00
IUUC-Lch-050310 Latimeria chalumnae 41.17 9.00e-94 337.00
IUUC-Loc-052508 Lepisosteus oculatus 37.41 2.00e-86 313.00
IUUC-Laf-054028 Loxodonta africana 68.33 1.00e-154 540.00
IUUC-Mcc-054935 Macaca mulatta 91.37 0.00e+00 787.00
IUUC-Mga-059318 Meleagris gallopavo 43.25 1.00e-55 210.00
IUUC-Mmr-061557 Microcebus murinus 65.24 1.00e-142 499.00
IUUC-Mdo-062475 Monodelphis domestica 51.80 2.00e-122 433.00
IUUC-Mmu-063994 Mus musculus 70.22 0.00e+00 670.00
IUUC-Mpu-066347 Mustela putorius furo 75.65 0.00e+00 660.00
IUUC-Mlu-068239 Myotis lucifugus 62.90 2.00e-88 318.00
IUUC-Nle-069544 Nomascus leucogenys 93.10 3.00e-28 118.00
IUUC-Opr-071199 Ochotona princeps 77.50 5.00e-74 271.00
IUUC-Ont-072571 Oreochromis niloticus 32.64 2.00e-35 143.00
IUUC-Oan-073739 Ornithorhynchus anatinus 54.44 2.00e-143 502.00
IUUC-Ogl-077865 Oryza glaberrima 56.52 2.00e-12 68.90
IUUC-Olo-080499 Oryza longistaminata 56.52 2.00e-12 69.30
IUUC-Opu-083209 Oryza punctata 56.52 2.00e-12 69.30
IUUC-Ola-086528 Oryzias latipes 35.21 1.00e-42 167.00
IUUC-Oga-088353 Otolemur garnettii 78.34 0.00e+00 677.00
IUUC-Oar-090065 Ovis aries 77.14 2.00e-146 512.00
IUUC-Ptr-091347 Pan troglodytes 98.30 0.00e+00 788.00
IUUC-Pan-092423 Papio anubis 92.49 0.00e+00 781.00
IUUC-Psi-093798 Pelodiscus sinensis 54.18 3.00e-135 475.00
IUUC-Pfo-096145 Poecilia formosa 71.70 2.00e-20 93.60
IUUC-Pab-098369 Pongo abelii 92.40 7.00e-138 483.00
IUUC-Pca-100537 Procavia capensis 73.31 8.00e-178 617.00
IUUC-Ppe-101215 Prunus persica 60.42 4.00e-14 73.90
IUUC-Pva-102639 Pteropus vampyrus 76.74 3.00e-175 608.00
IUUC-Rno-105285 Rattus norvegicus 70.36 0.00e+00 655.00
IUUC-Sha-107159 Sarcophilus harrisii 51.14 6.00e-127 447.00
IUUC-Sit-110355 Setaria italica 50.00 1.00e-13 72.80
IUUC-Sbi-113930 Sorghum bicolor 44.71 1.00e-13 72.80
IUUC-Ssc-115773 Sus scrofa 73.43 2.00e-178 619.00
IUUC-Tgu-116922 Taeniopygia guttata 49.39 2.00e-65 242.00
IUUC-Tru-118263 Takifugu rubripes 30.83 9.00e-60 224.00
IUUC-Tsy-119270 Tarsius syrichta 73.93 7.00e-93 334.00
IUUC-Tni-120138 Tetraodon nigroviridis 29.91 3.00e-56 213.00
IUUC-Tca-121757 Theobroma cacao 57.14 1.00e-13 73.20
IUUC-Tae-124715 Triticum aestivum 54.72 2.00e-13 72.40
IUUC-Tur-126422 Triticum urartu 53.19 2.00e-11 66.20
IUUC-Tme-127204 Tuber melanosporum 55.32 9.00e-14 72.80
IUUC-Tbe-128077 Tupaia belangeri 71.64 0.00e+00 643.00
IUUC-Ttr-128781 Tursiops truncatus 79.35 3.00e-72 266.00
IUUC-Xma-133054 Xiphophorus maculatus 30.50 3.00e-55 209.00
Created Date 25-Jun-2017

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