KEGG   Homo sapiens (human): 123720
Entry
123720            CDS       T01001                                 

Gene name
WHAMM, WHAMM1, WHDC1
Definition
(RefSeq) WASP homolog associated with actin, golgi membranes and microtubules
  KO
K20479  WASP homolog-associated protein with actin, membranes and microtubules
Organism
hsa  Homo sapiens (human)
Pathway
hsa04530  Tight junction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04530 Tight junction
    123720 (WHAMM)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    123720 (WHAMM)
Membrane trafficking [BR:hsa04131]
 Endoplasmic reticulum (ER) - Golgi transport
  Others
   Others
    123720 (WHAMM)
 Others
  Actin-binding proteins
   Nucleation-promoting factors (NPFs)
    123720 (WHAMM)
SSDB
Motif
Pfam: JMY WHAMM-JMY_N WH2
Other DBs
NCBI-GeneID: 123720
NCBI-ProteinID: NP_001073904
OMIM: 612393
HGNC: 30493
Ensembl: ENSG00000156232
Vega: OTTHUMG00000172422
Pharos: Q8TF30(Tbio)
UniProt: Q8TF30
LinkDB
Structure
PDB: 
5X1G

Position
15q25.2
AA seq 809 aa
MEDEQPDSLEGWVPVREGLFAEPERHRLRFLVAWNGAEGKFAVTCHDRTAQQRRLREGAR
LGPEPEPKPEAAVSPSSWAGLLSAAGLRGAHRQLAALWPPLERCFPRLPPELDVGGGGAW
GLGLGLWALLWPTRAGPGEAALQELCGQLERYLGAAADGCGGATVRDALFPAEGGAADCE
SPREFRERALRARWVEADARLRQVIQGHGKANTMVALMNVYQEEDEAYQELVTVATMFFQ
YLLQPFRAMREVATLCKLDILKSLDEDDLGPRRVVALEKEAEEWTRRAEEAVVSIQDITV
NYFKETVKALAGMQKEMEQDAKRFGQAAWATAIPRLEKLQLMLARETLQLMRAKELCLNH
KRAEIQGKMEDLPEQEKNTNVVDELEIQFYEIQLELYEVKFEILKNEEILLTTQLDSLKR
LIKEKQDEVVYYDPCENPEELKVIDCVVGLQDDKNLEVKELRRQCQQLESKRGRICAKRA
SLRSRKDQCKENHRFRLQQAEESIRYSRQHHSIQMKRDKIKEEEQKKKEWINQERQKTLQ
RLRSFKDKRLAQSVRNTSGSEPVAPNLPSDLSQQMCLPASHAVSVIHPSSRKTRGVPLSE
AGNVKSPKCQNCHGNIPVQVFVPVGDQTHSKSSEELSLPPPPPPPPPPPPPPPPPPPPLR
ALSSSSQAATHQNLGFRAPVKDDQPRPLVCESPAERPRDSLESFSCPGSMDEVLASLRHG
RAPLRKVEVPAVRPPHASINEHILAAIRQGVKLKKVHPDLGPNPSSKPTSNRRTSDLERS
IKAALQRIKRVSADSEEDSDEQDPGQWDG
NT seq 2430 nt   +upstreamnt  +downstreamnt
atggaggacgagcagcctgacagcctggagggctgggtgccggtccgggagggcctcttc
gccgagcccgagaggcaccggctgcgcttcctggtggcctggaacggcgcggagggcaag
ttcgctgtgacttgtcacgaccgtaccgcgcagcagcggcggctgcgcgagggggcccgg
ttggggcccgagcccgagcccaagcctgaggccgccgtctccccgtccagctgggccggc
ctgctctcggccgcggggctccgcggcgcgcaccggcagttggcggcgctgtggccgcct
ctggagcgctgcttcccgcggctgccgccggagctggacgtgggcggcggcggggcctgg
ggtctggggctcgggctgtgggcgctgctgtggccgacgcgcgcgggtcccggcgaggcg
gcgctgcaggagctgtgcgggcagctggaacgctatctgggcgcggcggccgacggctgc
ggcggcgccacagtgcgcgacgcactcttcccggctgagggcggcgcggccgactgcgaa
agcccgcgcgagttccgggagcgggccttgcgcgcgcggtgggtcgaggcggacgcgcgg
ctgcgccaggttattcaaggacacggaaaagccaacaccatggtagcattaatgaacgtt
taccaagaggaagatgaagcataccaggaattggttaccgtggcaaccatgttcttccag
tacttattgcagccatttagggctatgcgagaagttgcaactttatgtaagcttgatatt
ttgaagtctttggatgaggatgacctaggtcctagaagggtagttgccctggagaaagaa
gctgaagaatggaccagacgggctgaagaagctgtcgtctctattcaggatatcacagtg
aattattttaaggagacagtaaaagcattagcaggaatgcagaaagaaatggaacaggat
gcgaagagatttggtcaggctgcctgggccacagcaattcccaggttggaaaaacttcag
ctaatgctagctcgagagactctgcaactcatgagagcgaaagagttgtgtttaaatcac
aaaagagctgaaattcagggaaagatggaagatcttccagaacaagaaaaaaatacaaat
gttgtagatgaattagaaatacaattttatgaaattcaattagaactatatgaagttaaa
tttgagatattaaaaaacgaagaaatactgcttactacacagttggactctcttaaaaga
cttataaaagaaaaacaagatgaagttgtctattacgatccatgtgaaaatccagaggaa
cttaaagtcattgactgtgtggtggggctgcaggatgataagaatttggaagtgaaagaa
ctcagaaggcagtgccagcagctggagtctaaacggggcaggatctgtgccaaaagagcc
tctctccggagtagaaaggatcagtgcaaagaaaatcatcggttcagattgcaacaggct
gaagaaagcataagatactctcgtcagcatcacagtattcagatgaaaagagacaagata
aaagaagaggagcaaaagaaaaaagaatggatcaaccaagaacgtcaaaaaacactccaa
cgattgagatcatttaaagataaacgcctagctcaatctgtccgaaacacctctggctca
gaacctgtggctccaaacctgccaagtgatctttcccagcagatgtgcttgccagcttcc
cacgcggtgtcagtaattcacccgtcctctaggaaaactagaggtgttcccctatcggaa
gctggtaatgtgaaaagccccaagtgtcaaaactgtcatggaaatatccctgtccaggtt
tttgttccagttggtgatcaaacacattccaaatccagtgaggaattgtcactgccacca
cctcctcctcctccaccaccaccaccgccgccaccgccgcccccaccccctcctctccgt
gctctgtcctcatcctctcaagctgcaactcatcagaacttaggcttccgggctccagtg
aaagatgaccagccacgtcctctagtgtgcgaatcacctgctgagcgaccacgtgactcc
ttggaaagtttttcatgtccaggatctatggatgaagtgttggcctccttaaggcatggc
agagctcctctccggaaggtggaagtgccggcggtgcgccctccccacgcctcaatcaat
gagcacattctggctgccataaggcaaggggtcaaactgaagaaagttcaccctgatctt
ggcccaaaccccagcagcaaaccaaccagcaacagacgcaccagtgaccttgagaggagc
atcaaggctgcgctccagagaatcaagagggtgtctgctgactctgaggaggacagtgat
gagcaggaccctggccagtgggatggttag

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 [BR:hsa04990]
    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)
Domain-containing proteins not elsewhere classified [BR:hsa04990]
 EVH1 / WASP  homology  (WH) domain-containing proteins
  WH1 domain-containing proteins
   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
LinkDB
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

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