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

Gene name
WAS, IMD2, SCNX, THC, THC1, WASP, WASPA
Definition
(RefSeq) WASP actin nucleation promoting factor
  KO
K05747  Wiskott-Aldrich syndrome protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04062  Chemokine signaling pathway
hsa04520  Adherens junction
hsa04530  Tight junction
hsa04666  Fc gamma R-mediated phagocytosis
hsa05135  Yersinia 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
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    7454 (WAS)
   04530 Tight junction
    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 Cancer: overview
   05231 Choline metabolism in cancer
    7454 (WAS)
  09171 Infectious disease: bacterial
   05135 Yersinia infection
    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)
   04990  Domain-containing proteins not elsewhere classified
    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)
SSDB
Motif
Pfam: WH1 PBD WH2
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: 
2K42 1T84 1EJ5 1CEE

Position
Xp11.23
AA seq 502 aa
MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG
AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD
DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH
PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA
PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL
EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP
PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV
PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA
IHSSDEGEDQAGDEDEDDEWDD
NT seq 1509 nt   +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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (6)   
   KEGG PATHWAY (6)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (17)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (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 (69)   

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