Homo sapiens (human): 326
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Entry
326 CDS
T01001
Symbol
AIRE, AIRE1, APECED, APS1, APSI, PGA1
Name
(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 disease
05340 Primary immunodeficiency
326 (AIRE)
09180 Brite Hierarchies
09182 Protein families: genetic information processing
03000 Transcription factors [BR:
hsa03000
]
326 (AIRE)
04121 Ubiquitin system [BR:
hsa04121
]
326 (AIRE)
Transcription factors [BR:
hsa03000
]
Eukaryotic type
beta-Scaffold factors with minor groove contacts
SAND domain-containing proteins
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
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
HSR
PHD
SAND
PHDvar_NSD
PHD-1st_NSD
zf-HC5HC2H
zf-HC5HC2H_2
PHD_2
Motif
Other DBs
NCBI-GeneID:
326
NCBI-ProteinID:
NP_000374
OMIM:
607358
HGNC:
360
Ensembl:
ENSG00000160224
UniProt:
O43918
Structure
PDB
LinkDB
All DBs
Position
21:44285876..44298648
Genome browser
AA seq
545 aa
AA seq
DB search
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFH
ALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPK
ALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNG
IQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSG
SGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLHQKNEDECA
VCRDGGELICCDGCPRAFHLACLSPPLREIPSGTWRCSSCLQATVQEVQPRAEEPRPQEP
PVETPLPPGLRSAGEEVRGPPGEPLAGMDTTLVYKHLPAPPSAAPLPGLDSSALHPLLCV
GPEGQQNLAPGARCGVCGDGTDVLRCTHCAAAFHWRCHFPAGTSRPGTGLRCRSCSGDVT
PAPVEGVLAPSPARLAPGPAKDDTASHEPALHRDDLESLLSEHTFDGILQWAIQSMARPA
APFPS
NT seq
1638 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system