KEGG   Homo sapiens (human): 326Help
Entry
326               CDS       T01001                                 

Gene name
AIRE, AIRE1, APECED, APS1, APSI, PGA1
Definition
(RefSeq) autoimmune regulator
  KO
K10603  
autoimmune regulator
Organism
hsa  Homo sapiens (human)
Pathway
Ubiquitin mediated proteolysis
Primary immunodeficiency
Disease
H00107  
Other well-defined immunodeficiency syndromes
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Genetic Information Processing
  Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    326 (AIRE)
 Human Diseases
  Immune diseases
   05340 Primary immunodeficiency
    326 (AIRE)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Single Ring-finger type E3
   Other single Ring-finger type E3
    326 (AIRE)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
21q22.3
AA seq 545 aa AA seqDB search
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFH
ALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPK
ALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNG
IQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEP
PVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPA
APFPS
NT seq 1638 nt NT seq  +upstreamnt  +downstreamnt
atggcgacggacgcggcgctacgccggcttctgaggctgcaccgcacggagatcgcggtg
gccgtggacagcgccttcccactgctgcacgcgctggctgaccacgacgtggtccccgag
gacaagtttcaggagacgcttcatctgaaggaaaaggagggctgcccccaggccttccac
gccctcctgtcctggctgctgacccaggactccacagccatcctggacttctggagggtg
ctgttcaaggactacaacctggagcgctatggccggctgcagcccatcctggacagcttc
cccaaagatgtggacctcagccagccccggaaggggaggaagcccccggccgtccccaag
gctttggtaccgccacccagactccccaccaagaggaaggcctcagaagaggctcgagct
gccgcgccagcagccctgactccaaggggcaccgccagcccaggctctcaactgaaggcc
aagccccccaagaagccggagagcagcgcagagcagcagcgccttccactcgggaacggg
attcagaccatgtcagcttcagtccagagagctgtggccatgtcctccggggacgtcccg
ggagcccgaggggccgtggaggggatcctcatccagcaggtgtttgagtcaggcggctcc
aagaagtgcatccaggttggcggggagttctacactcccagcaagttcgaagactccggc
agtgggaagaacaaggcccgcagcagcagtggcccgaagcctctggttcgagccaaggga
gcccagggcgctgcccccggtggaggtgaggctaggctgggccagcagggcagcgttccc
gcccctctggccctccccagtgacccccagctccaccagaagaatgaggacgagtgtgcc
gtgtgtcgggacggcggggagctcatctgctgtgacggctgccctcgggccttccacctg
gcctgcctgtcccctccgctccgggagatccccagtgggacctggaggtgctccagctgc
ctgcaggcaacagtccaggaggtgcagccccgggcagaggagccccggccccaggagcca
cccgtggagaccccgctccccccggggcttaggtcggcgggagaggaggtaagaggtcca
cctggggaacccctagccggcatggacacgactcttgtctacaagcacctgccggctccg
ccttctgcagccccgctgccagggctggactcctcggccctgcaccccctactgtgtgtg
ggtcctgagggtcagcagaacctggctcctggtgcgcgttgcggggtgtgcggagatggt
acggacgtgctgcggtgtactcactgcgccgctgccttccactggcgctgccacttccca
gccggcacctcccggcccgggacgggcctgcgctgcagatcctgctcaggagacgtgacc
ccagcccctgtggagggggtgctggcccccagccccgcccgcctggcccctgggcctgcc
aaggatgacactgccagtcacgagcccgctctgcacagggatgacctggagtcccttctg
agcgagcacaccttcgatggcatcctgcagtgggccatccagagcatggcccgtccggcg
gcccccttcccctcctga

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