KEGG   Homo sapiens (human): 7454Help
Entry
7454              CDS       T01001                                 

Gene name
WAS, IMD2, SCNX, THC, THC1, WASP
Definition
Wiskott-Aldrich syndrome
Orthology
K05747  
Wiskott-Aldrich syndrome protein
Organism
hsa  Homo sapiens (human)
Pathway
Chemokine signaling pathway
Adherens junction
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Bacterial invasion of epithelial cells
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Disease
H00100  
Neutropenic disorders
H00107  
Other well-defined immunodeficiency syndromes
H00978  
Thrombocytopenia (THC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cell motility
   04810 Regulation of actin cytoskeleton
    7454 (WAS)
  Cellular commiunity
   04520 Adherens junction
    7454 (WAS)
 Organismal Systems
  Immune system
   04666 Fc gamma R-mediated phagocytosis
    7454 (WAS)
   04062 Chemokine signaling pathway
    7454 (WAS)
 Human Diseases
  Infectious diseases
   05130 Pathogenic Escherichia coli infection
    7454 (WAS)
   05132 Salmonella infection
    7454 (WAS)
   05131 Shigellosis
    7454 (WAS)
   05100 Bacterial invasion of epithelial cells
    7454 (WAS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
LinkDB All DBs
Structure
PDB: 

Jmol
Position
Xp11.4-p11.21
AA seq 502 aa AA seqDB search
MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG
AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD
DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH
PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA
PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL
EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP
PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV
PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA
IHSSDEGEDQAGDEDEDDEWDD
NT seq 1509 nt NT seq  +upstreamnt  +downstreamnt
atgagtgggggcccaatgggaggaaggcccgggggccgaggagcaccagcggttcagcag
aacataccctccaccctcctccaggaccacgagaaccagcgactctttgagatgcttgga
cgaaaatgcttgacgctggccactgcagttgttcagctgtacctggcgctgccccctgga
gctgagcactggaccaaggagcattgtggggctgtgtgcttcgtgaaggataacccccag
aagtcctacttcatccgcctttacggccttcaggctggtcggctgctctgggaacaggag
ctgtactcacagcttgtctactccacccccacccccttcttccacaccttcgctggagat
gactgccaagcggggctgaactttgcagacgaggacgaggcccaggccttccgggccctc
gtgcaggagaagatacaaaaaaggaatcagaggcaaagtggagacagacgccagctaccc
ccaccaccaacaccagccaatgaagagagaagaggagggctcccacccctgcccctgcat
ccaggtggagaccaaggaggccctccagtgggtccgctctccctggggctggcgacagtg
gacatccagaaccctgacatcacgagttcacgataccgtgggctcccagcacctggacct
agcccagctgataagaaacgctcagggaagaagaagatcagcaaagctgatattggtgca
cccagtggattcaagcatgtcagccacgtggggtgggacccccagaatggatttgacgtg
aacaacctcgacccagatctgcggagtctgttctccagggcaggaatcagcgaggcccag
ctcaccgacgccgagacctctaaacttatctacgacttcattgaggaccagggtgggctg
gaggctgtgcggcaggagatgaggcgccaggagccacttccgccgcccccaccgccatct
cgaggagggaaccagctcccccggccccctattgtggggggtaacaagggtcgttctggt
ccactgccccctgtacctttggggattgccccacccccaccaacaccccggggaccccca
cccccaggccgagggggccctccaccaccaccccctccagctactggacgttctggacca
ctgccccctccaccccctggagctggtgggccacccatgccaccaccaccgccaccaccg
ccaccgccgcccagctccgggaatggaccagcccctcccccactccctcctgctctggtg
cctgccgggggcctggcccctggtgggggtcggggagcgcttttggatcaaatccggcag
ggaattcagctgaacaagacccctggggccccagagagctcagcgctgcagccaccacct
cagagctcagagggactggtgggggccctgatgcacgtgatgcagaagagaagcagagcc
atccactcctccgacgaaggggaggaccaggctggcgatgaagatgaagatgatgaatgg
gatgactga

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