KEGG   Homo sapiens (human): 170302Help
Entry
170302            CDS       T01001                                 

Gene name
ARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
Definition
aristaless related homeobox
Orthology
K09452  
homeobox protein aristaless-related
Organism
hsa  Homo sapiens (human)
Disease
H00268  
Lissencephaly (LIS)
H00480  
Non-syndromic X-linked mental retardation
H00577  
Syndromic X-linked mental retardation with epilepsy or seizures
H00606  
Early infantile epileptic encephalopathy
Brite
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Homeo domain only, Prd
    170302 (ARX)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
Xp21.3
AA seq 562 aa AA seqDB search
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADP
EKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAG
PRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGA
PFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPE
DAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREE
LAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFP
PHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAK
EHAAQLTQLNILPGTSTGKEVC
NT seq 1689 nt NT seq  +upstreamnt  +downstreamnt
atgagcaatcagtaccaggaggagggctgctccgagaggcccgagtgcaaaagtaaatct
ccaactttgctctcctcctactgcatcgacagcatcctgggccggaggagcccgtgcaaa
atgcggttgctgggagccgcgcagagcttgcctgctccgctgaccagccgcgccgacccg
gaaaaggccgtgcaaggctcccctaagagcagcagcgccccgttcgaggccgagctgcac
ctgccgcccaagctgcggcgcctgtacggcccgggcgggggccgcctccttcagggtgcg
gcagcggcggcggcggcggcggcggcggcggcggcagcggccgccacggccacggcgggt
ccacgcggggaggcccctccgccgccaccgccaaccgcgcggcccggggaacggccggac
ggcgcaggggccgccgcggcagccgcggccgcggccgccgcggcctgggacacgctcaag
atcagccaggcgccgcaggtgagcatcagccgcagcaagtcgtaccgcgagaacggggcg
cccttcgtgccgccgccgcccgcgctggacgagctgggcggcccggggggcgtcacgcac
ccggaggagcgcctcggcgtggccggcggcccgggcagcgccccggctgcgggtggtggc
accggcaccgaggacgacgaggaggagctgctggaggacgaagaagatgaggacgaggaa
gaggaactgctggaggacgacgaggaggagctgctggaggacgacgcccgcgcgctgctc
aaggagccccggcgctgtcctgtggccgccactggcgccgtggccgcagcagctgccgct
gcagtggccacagagggcggggagctgtcacccaaggaggagctgctgctgcacccggaa
gacgctgagggcaaggacggcgaggacagcgtgtgcctctctgcgggcagcgactcggag
gaggggctgctgaaacgcaaacagaggcgctaccgcaccacgttcaccagctaccagctg
gaggaactggagcgggccttccagaagacgcactacccggacgtcttcaccagggaggaa
ctggccatgaggctggacttgaccgaggcccgagtccaggtctggttccagaaccgtcgg
gccaagtggcgcaagcgggagaaggcaggcgcgcagacccacccccctgggctgcccttc
ccggggccgctctccgccacccacccgctcagcccctacctggacgccagccccttccct
ccgcaccacccggcgctcgactccgcttggactgccgctgccgccgccgccgccgccgcc
ttcccgagcctacctccgcctccgggctcggccagcctgccgcccagcggggcgccgctg
ggcctgagcactttcctcggagcggcagtgttccgacacccagctttcatcagcccggca
ttcggcaggctcttttccacaatggcccccctgaccagcgcgtcgaccgcggccgcgctc
ctgagacagcccacacccgccgtggagggcgcagtggcatcgggcgccctggccgacccg
gccacggcggccgcagacagacgcgcctctagcatagccgcgctgaggctcaaggccaag
gagcacgcggcgcagctcacgcagctcaacatcctgccgggcaccagcacgggcaaggag
gtgtgctaa

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