KEGG   Homo sapiens (human): 5077
Entry
5077              CDS       T01001                                 
Symbol
PAX3, CDHS, HUP2, PAX-3, WS1, WS3
Name
(RefSeq) paired box 3
  KO
K09381  paired box protein 3/7
Organism
hsa  Homo sapiens (human)
Pathway
hsa05202  Transcriptional misregulation in cancer
Disease
H00037  Rhabdomyosarcoma
H00446  Craniofacial-deafness-hand syndrome
H00759  Waardenburg syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    5077 (PAX3)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5077 (PAX3)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5077 (PAX3)
SSDB
Motif
Pfam: PAX Pax7 Homeodomain HTH_32 HTH_23 Homeobox_KN HTH_Tnp_IS1 DUF6033
Other DBs
NCBI-GeneID: 5077
NCBI-ProteinID: NP_852122
OMIM: 606597
HGNC: 8617
Ensembl: ENSG00000135903
UniProt: P23760
Structure
Position
2:complement(222199887..222298998)
AA seq 479 aa
MTTLAGAVPRMMRPGPGQNYPRSGFPLEVSTPLGQGRVNQLGGVFINGRPLPNHIRHKIV
EMAHHGIRPCVISRQLRVSHGCVSKILCRYQETGSIRPGAIGGSKPKQVTTPDVEKKIEE
YKRENPGMFSWEIRDKLLKDAVCDRNTVPSVSSISRILRSKFGKGEEEEADLERKEAEES
EKKAKHSIDGILSERASAPQSDEGSDIDSEPDLPLKRKQRRSRTTFTAEQLEELERAFER
THYPDIYTREELAQRAKLTEARVQVWFSNRRARWRKQAGANQLMAFNHLIPGGFPPTAMP
TLPTYQLSETSYQPTSIPQAVSDPSSTVHRPQPLPPSTVHQSTIPSNPDSSSAYCLPSTR
HGFSSYTDSFVPPSGPSNPMNPTIGNGLSPQVMGLLTNHGGVPHQPQTDYALSPLTGGLE
PTTTVSASCSQRLDHMKSLDSLPTSQSYCPPTYSTTGYSMDPVTGYQYGQYGQSKPWTF
NT seq 1440 nt   +upstreamnt  +downstreamnt
atgaccacgctggccggcgctgtgcccaggatgatgcggccgggcccggggcagaactac
ccgcgtagcgggttcccgctggaagtgtccactcccctcggccagggccgcgtcaaccag
ctcggcggtgtttttatcaacggcaggccgctgcccaaccacatccgccacaagatcgtg
gagatggcccaccacggcatccggccctgcgtcatctcgcgccagctgcgcgtgtcccac
ggctgcgtctccaagatcctgtgcaggtaccaggagactggctccatacgtcctggtgcc
atcggcggcagcaagcccaagcaggtgacaacgcctgacgtggagaagaaaattgaggaa
tacaaaagagagaacccgggcatgttcagctgggaaatccgagacaaattactcaaggac
gcggtctgtgatcgaaacaccgtgccgtcagtgagttccatcagccgcatcctgagaagt
aaattcgggaaaggtgaagaggaggaggccgacttggagaggaaggaggcagaggaaagc
gagaagaaggccaaacacagcatcgacggcatcctgagcgagcgagcctcagcaccccaa
tcagatgaaggctctgatattgactctgaaccagatttaccactaaagaggaaacagcgc
agaagccgaaccaccttcacagcagaacagctggaggaactggagcgtgcttttgagaga
actcattaccctgacatttatactagggaggaactggcccagagggcgaagctcaccgag
gcccgagtacaggtctggtttagcaaccgccgtgcaagatggaggaagcaagctggggcc
aatcaactgatggctttcaaccatctcattcccggggggttccctcccactgccatgccg
accttgccaacgtaccagctgtcggagacctcttaccagcccacatctattccacaagct
gtgtcagatcccagcagcaccgttcacagacctcaaccgcttcctccaagcactgtacac
caaagcacgattccttccaacccagacagcagctctgcctactgcctccccagcaccagg
catggattttccagctatacagacagctttgtgcctccgtcggggccctccaaccccatg
aaccccaccattggcaatggcctctcacctcaggtaatgggactcctgaccaaccacggt
ggggtacctcatcagccccagactgattacgcgctctcccctctcaccgggggtctggaa
cctaccaccacggtgtcggccagctgcagtcagagactagaccatatgaagagcttggac
agtctgccaacatctcagtcctactgtccacccacctatagcaccacaggctacagtatg
gaccctgtcacaggctaccaatatgggcagtatggacaaagtaagccttggactttttag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (3)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (10)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (10)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (44)   
   RefSeq(nuc) (8)   
   GenBank (18)   
   EMBL (18)   
3D Structure (1)   
   PDB (1)   
Protein domain (8)   
   Pfam (8)   
All databases (85)   

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