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

Gene name
WAS, IMD2, SCNX, THC, THC1, WASP, WASPA
Definition
(RefSeq) Wiskott-Aldrich syndrome
  KO
K05747  Wiskott-Aldrich syndrome protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04062  Chemokine signaling pathway
hsa04144  Endocytosis
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04666  Fc gamma R-mediated phagocytosis
hsa04810  Regulation of actin cytoskeleton
hsa05100  Bacterial invasion of epithelial cells
hsa05130  Pathogenic Escherichia coli infection
hsa05131  Shigellosis
hsa05132  Salmonella infection
hsa05231  Choline metabolism in cancer
Disease
H00100  Neutropenic disorders
H00107  Other well-defined immunodeficiency syndromes
H00978  Thrombocytopenia (THC)
H01523  Wiskott-Aldrich syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04144 Endocytosis
    7454 (WAS)
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    7454 (WAS)
   04530 Tight junction
    7454 (WAS)
  09142 Cell motility
   04810 Regulation of actin cytoskeleton
    7454 (WAS)
 09150 Organismal Systems
  09151 Immune system
   04666 Fc gamma R-mediated phagocytosis
    7454 (WAS)
   04062 Chemokine signaling pathway
    7454 (WAS)
 09160 Human Diseases
  09161 Cancers: Overview
   05231 Choline metabolism in cancer
    7454 (WAS)
  09171 Infectious diseases: Bacterial
   05130 Pathogenic Escherichia coli infection
    7454 (WAS)
   05132 Salmonella infection
    7454 (WAS)
   05131 Shigellosis
    7454 (WAS)
   05100 Bacterial invasion of epithelial cells
    7454 (WAS)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    7454 (WAS)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    7454 (WAS)
Membrane trafficking [BR:hsa04131]
 Others
  Actin-binding proteins
   Nucleation-promoting factors (NPFs)
    7454 (WAS)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    WASP / WAVE
     7454 (WAS)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: WH1 PBD WH2
Motif
Other DBs
NCBI-GeneID: 7454
NCBI-ProteinID: NP_000368
OMIM: 300392
HGNC: 12731
Ensembl: ENSG00000015285
Vega: OTTHUMG00000034483
Pharos: P42768(Tbio)
UniProt: P42768 A0A024QYX8
Structure
PDB: 

Position
Xp11.23
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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Ontology (3)   
   KEGG BRITE (3)   
Pathway (11)   
   KEGG PATHWAY (11)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (28)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (15)   
   RefSeq(nuc) (3)   
   GenBank (6)   
   EMBL (6)   
Protein domain (3)   
   Pfam (3)   
All databases (75)   

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