KEGG   Homo sapiens (human): 170302
Entry
170302            CDS       T01001                                 
Symbol
ARX, CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS
Name
(RefSeq) aristaless related homeobox
  KO
K09452  homeobox protein aristaless-related
Organism
hsa  Homo sapiens (human)
Disease
H00268  Lissencephaly
H00480  X-linked intellectual developmental disorder
H00606  Early infantile epileptic encephalopathy
H01460  West syndrome
H01919  Proud syndrome
H01920  Partington syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    170302 (ARX)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    170302 (ARX)
SSDB
Motif
Pfam: Homeodomain OAR Homeobox_KN
Other DBs
NCBI-GeneID: 170302
NCBI-ProteinID: NP_620689
OMIM: 300382
HGNC: 18060
Ensembl: ENSG00000004848
UniProt: Q96QS3
Position
X:complement(25003694..25015965)
AA seq 562 aa
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADP
EKAVQGSPKSSSAPFEAELHLPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAG
PRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLKISQAPQVSISRSKSYRENGA
PFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPE
DAEGKDGEDSVCLSAGSDSEEGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREE
LAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPFPGPLSATHPLSPYLDASPFP
PHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAK
EHAAQLTQLNILPGTSTGKEVC
NT seq 1689 nt   +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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (12)   
   KEGG DISEASE (6)   
   OMIM (6)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
Protein domain (3)   
   Pfam (3)   
All databases (56)   

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