KEGG   Homo sapiens (human): 50943Help
Entry
50943             CDS       T01001                                 

Gene name
FOXP3, AIID, DIETER, IPEX, JM2, PIDX, XPID
Definition
(RefSeq) forkhead box P3
  KO
K10163  forkhead box P3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04659  Th17 cell differentiation
hsa05321  Inflammatory bowel disease (IBD)
Disease
H00107  Other well-defined immunodeficiency syndromes
H00512  Permanent neonatal diabetes mellitus (PNDM)
H01971  IPEX syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Immune system
   04659 Th17 cell differentiation
    50943 (FOXP3)
 Human Diseases
  Immune diseases
   05321 Inflammatiory bowel disease (IBD)
    50943 (FOXP3)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Fork head/winged helix other regulators
    50943 (FOXP3)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: FOXP-CC Forkhead
Motif
Other DBs
NCBI-GeneID: 50943
NCBI-ProteinID: NP_054728
OMIM: 300292
HGNC: 6106
Ensembl: ENSG00000049768
Vega: OTTHUMG00000024135
Pharos: Q9BZS1(Tbio)
UniProt: Q9BZS1
Structure
PDB: 

Jmol
Position
Xp11.23
AA seq 431 aa AA seqDB search
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSS
LNPMPPSQLQLPTLPLVMVAPSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQV
HPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKD
STLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPRE
APDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTL
NEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQR
PSRCSNPTPGP
NT seq 1296 nt NT seq  +upstreamnt  +downstreamnt
atgcccaaccccaggcctggcaagccctcggccccttccttggcccttggcccatcccca
ggagcctcgcccagctggagggctgcacccaaagcctcagacctgctgggggcccggggc
ccagggggaaccttccagggccgagatcttcgaggcggggcccatgcctcctcttcttcc
ttgaaccccatgccaccatcgcagctgcagctgcccacactgcccctagtcatggtggca
ccctccggggcacggctgggccccttgccccacttacaggcactcctccaggacaggcca
catttcatgcaccagctctcaacggtggatgcccacgcccggacccctgtgctgcaggtg
caccccctggagagcccagccatgatcagcctcacaccacccaccaccgccactggggtc
ttctccctcaaggcccggcctggcctcccacctgggatcaacgtggccagcctggaatgg
gtgtccagggagccggcactgctctgcaccttcccaaatcccagtgcacccaggaaggac
agcaccctttcggctgtgccccagagctcctacccactgctggcaaatggtgtctgcaag
tggcccggatgtgagaaggtcttcgaagagccagaggacttcctcaagcactgccaggcg
gaccatcttctggatgagaagggcagggcacaatgtctcctccagagagagatggtacag
tctctggagcagcagctggtgctggagaaggagaagctgagtgccatgcaggcccacctg
gctgggaaaatggcactgaccaaggcttcatctgtggcatcatccgacaagggctcctgc
tgcatcgtagctgctggcagccaaggccctgtcgtcccagcctggtctggcccccgggag
gcccctgacagcctgtttgctgtccggaggcacctgtggggtagccatggaaacagcaca
ttcccagagttcctccacaacatggactacttcaagttccacaacatgcgaccccctttc
acctacgccacgctcatccgctgggccatcctggaggctccagagaagcagcggacactc
aatgagatctaccactggttcacacgcatgtttgccttcttcagaaaccatcctgccacc
tggaagaacgccatccgccacaacctgagtctgcacaagtgctttgtgcgggtggagagc
gagaagggggctgtgtggaccgtggatgagctggagttccgcaagaaacggagccagagg
cccagcaggtgttccaaccctacacctggcccctga

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