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
hsa04120  Ubiquitin mediated proteolysis
hsa05340  Primary immunodeficiency
Disease
H00107  Other well-defined immunodeficiency syndromes
H01972  Autoimmune polyendocrinopathy syndrome type 1
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09123 Folding, sorting and degradation
   04120 Ubiquitin mediated proteolysis
    326 (AIRE)
 09160 Human Diseases
  09163 Immune diseases
   05340 Primary immunodeficiency
    326 (AIRE)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04121 Ubiquitin system [BR:hsa04121]
    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
Pfam: HSR PHD SAND zf-HC5HC2H PHD_2 zf-HC5HC2H_2 zf-PHD-like Prok-RING_1
Motif
Other DBs
NCBI-GeneID: 326
NCBI-ProteinID: NP_000374
OMIM: 607358
HGNC: 360
Ensembl: ENSG00000160224
Vega: OTTHUMG00000086921
Pharos: O43918(Tbio)
UniProt: O43918
Structure
PDB: 

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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