KEGG   Homo sapiens (human): 50943
Entry
50943             CDS       T01001                                 
Symbol
FOXP3, AIID, DIETER, IPEX, JM2, PIDX, XPID
Name
(RefSeq) forkhead box protein P3 isoform a
  KO
K10163  forkhead box P3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04659  Th17 cell differentiation
hsa05321  Inflammatory bowel disease
Disease
H00107  Other well-defined immunodeficiency syndromes
H00512  Permanent neonatal diabetes mellitus
H01971  IPEX syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09151 Immune system
   04659 Th17 cell differentiation
    50943 (FOXP3)
 09160 Human Diseases
  09163 Immune disease
   05321 Inflammatory bowel disease
    50943 (FOXP3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    50943 (FOXP3)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Fork head/winged helix other regulators
    50943 (FOXP3)
SSDB
Motif
Pfam: FOXP-CC Forkhead Zap1_zf1
Other DBs
NCBI-GeneID: 50943
NCBI-ProteinID: NP_054728
OMIM: 300292
HGNC: 6106
Ensembl: ENSP00000365380.4
UniProt: Q9BZS1
Structure
Position
X:complement(49250438..49264710)
AA seq 431 aa
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSS
LNPMPPSQLQLPTLPLVMVAPSGARLGPLPHLQALLQDRPHFMHQLSTVDAHARTPVLQV
HPLESPAMISLTPPTTATGVFSLKARPGLPPGINVASLEWVSREPALLCTFPNPSAPRKD
STLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFLKHCQADHLLDEKGRAQCLLQREMVQ
SLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASSDKGSCCIVAAGSQGPVVPAWSGPRE
APDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHNMRPPFTYATLIRWAILEAPEKQRTL
NEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCFVRVESEKGAVWTVDELEFRKKRSQR
PSRCSNPTPGP
NT seq 1296 nt   +upstreamnt  +downstreamnt
atgcccaaccccaggcctggcaagccctcggccccttccttggcccttggcccatcccca
ggagcctcgcccagctggagggctgcacccaaagcctcagacctgctgggggcccggggc
ccagggggaaccttccagggccgagatcttcgaggcggggcccatgcctcctcttcttcc
ttgaaccccatgccaccatcgcagctgcagctgcccacactgcccctagtcatggtggca
ccctccggggcacggctgggccccttgccccacttacaggcactcctccaggacaggcca
catttcatgcaccagctctcaacggtggatgcccacgcccggacccctgtgctgcaggtg
caccccctggagagcccagccatgatcagcctcacaccacccaccaccgccactggggtc
ttctccctcaaggcccggcctggcctcccacctgggatcaacgtggccagcctggaatgg
gtgtccagggagccggcactgctctgcaccttcccaaatcccagtgcacccaggaaggac
agcaccctttcggctgtgccccagagctcctacccactgctggcaaatggtgtctgcaag
tggcccggatgtgagaaggtcttcgaagagccagaggacttcctcaagcactgccaggcg
gaccatcttctggatgagaagggcagggcacaatgtctcctccagagagagatggtacag
tctctggagcagcagctggtgctggagaaggagaagctgagtgccatgcaggcccacctg
gctgggaaaatggcactgaccaaggcttcatctgtggcatcatccgacaagggctcctgc
tgcatcgtagctgctggcagccaaggccctgtcgtcccagcctggtctggcccccgggag
gcccctgacagcctgtttgctgtccggaggcacctgtggggtagccatggaaacagcaca
ttcccagagttcctccacaacatggactacttcaagttccacaacatgcgaccccctttc
acctacgccacgctcatccgctgggccatcctggaggctccagagaagcagcggacactc
aatgagatctaccactggttcacacgcatgtttgccttcttcagaaaccatcctgccacc
tggaagaacgccatccgccacaacctgagtctgcacaagtgctttgtgcgggtggagagc
gagaagggggctgtgtggaccgtggatgagctggagttccgcaagaaacggagccagagg
cccagcaggtgttccaaccctacacctggcccctga

  All links  
Disease (2)   
   OMIM (2)   
Gene (14)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (28)   
   RefSeq(nuc) (2)   
   GenBank (13)   
   EMBL (13)   
3D Structure (2)   
   PDB (2)   
Protein domain (3)   
   Pfam (3)   
All databases (53)   

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