KEGG   Homo sapiens (human): 5080
Entry
5080              CDS       T01001                                 
Symbol
PAX6, AN, AN1, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Name
(RefSeq) paired box 6
  KO
K08031  paired box protein 6
Organism
hsa  Homo sapiens (human)
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04950  Maturity onset diabetes of the young
Disease
H00635  Aniridia
H01114  Ocular coloboma
H01159  Anterior segment dysgenesis
H01256  Foveal hypoplasia
H01273  Autosomal dominant keratitis
H02203  Optic nerve hypoplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    5080 (PAX6)
 09160 Human Diseases
  09167 Endocrine and metabolic disease
   04950 Maturity onset diabetes of the young
    5080 (PAX6)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    5080 (PAX6)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Helix-turn-helix
   Homeo domain Paired-related
    5080 (PAX6)
SSDB
Motif
Pfam: PAX Homeodomain HTH_32 HTH_23 HTH_Tnp_IS1 HTH_28 Homeobox_KN
Other DBs
NCBI-GeneID: 5080
NCBI-ProteinID: NP_000271
OMIM: 607108
HGNC: 8620
Ensembl: ENSG00000007372
Pharos: P26367(Tbio)
UniProt: P26367 Q66SS1
Structure
Position
11:complement(31789026..31817961)
AA seq 422 aa
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
NT seq 1269 nt   +upstreamnt  +downstreamnt
atgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggcca
ctgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgc
gacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtat
tacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgact
ccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgg
gaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtg
tcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagac
ggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccct
ggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacag
gaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggct
caaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagag
caaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccga
gaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaat
cgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaac
acacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattcca
caacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacaca
gccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataac
ctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccacc
agcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacac
atgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggt
gtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaaga
ttacagtaa

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (15)   
   KEGG DISEASE (6)   
   OMIM (9)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (7)   
   OC (1)   
   PHAROS (1)   
Protein sequence (54)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (51)   
DNA sequence (149)   
   RefSeq(nuc) (53)   
   GenBank (48)   
   EMBL (48)   
3D Structure (2)   
   PDB (2)   
Protein domain (7)   
   Pfam (7)   
All databases (249)   

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