KEGG   Homo sapiens (human): 5080Help
Entry
5080              CDS       T01001                                 

Gene name
PAX6, AN, AN2, ASGD5, D11S812E, FVH1, MGDA, WAGR
Definition
(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
H00271  Polymicrogyria
H00635  Aniridia
H01075  Peters anomaly
H01114  Ocular coloboma
H01159  Anterior segment dysgenesis (ASD)
H01202  Cataract
H01256  Foveal hypoplasia
H01273  Autosomal dominant keratitis (ADK)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Cellular community - eukaryotes
   04550 Signaling pathways regulating pluripotency of stem cells
    5080 (PAX6)
 Human Diseases
  Endocrine and metabolic diseases
   04950 Maturity onset diabetes of the young
    5080 (PAX6)
Transcription factors [BR:hsa03000]
 Eukaryotic Type
  Helix-turn-helix
   Paired box plus homeo domain
    5080 (PAX6)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PAX Homeobox HTH_32 HTH_23 HTH_Tnp_IS1 Homeobox_KN HTH_28
Motif
Other DBs
NCBI-GeneID: 5080
NCBI-ProteinID: NP_000271
OMIM: 607108
HGNC: 8620
Ensembl: ENSG00000007372
Vega: OTTHUMG00000041447
Pharos: P26367(Tbio)
UniProt: P26367 Q66SS1
LinkDB All DBs
Structure
PDB: 

Jmol
Position
11p13
AA seq 422 aa AA seqDB search
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
NT seq 1269 nt NT seq  +upstreamnt  +downstreamnt
atgcagaacagtcacagcggagtgaatcagctcggtggtgtctttgtcaacgggcggcca
ctgccggactccacccggcagaagattgtagagctagctcacagcggggcccggccgtgc
gacatttcccgaattctgcaggtgtccaacggatgtgtgagtaaaattctgggcaggtat
tacgagactggctccatcagacccagggcaatcggtggtagtaaaccgagagtagcgact
ccagaagttgtaagcaaaatagcccagtataagcgggagtgcccgtccatctttgcttgg
gaaatccgagacagattactgtccgagggggtctgtaccaacgataacataccaagcgtg
tcatcaataaacagagttcttcgcaacctggctagcgaaaagcaacagatgggcgcagac
ggcatgtatgataaactaaggatgttgaacgggcagaccggaagctggggcacccgccct
ggttggtatccggggacttcggtgccagggcaacctacgcaagatggctgccagcaacag
gaaggagggggagagaataccaactccatcagttccaacggagaagattcagatgaggct
caaatgcgacttcagctgaagcggaagctgcaaagaaatagaacatcctttacccaagag
caaattgaggccctggagaaagagtttgagagaacccattatccagatgtgtttgcccga
gaaagactagcagccaaaatagatctacctgaagcaagaatacaggtatggttttctaat
cgaagggccaaatggagaagagaagaaaaactgaggaatcagagaagacaggccagcaac
acacctagtcatattcctatcagcagtagtttcagcaccagtgtctaccaaccaattcca
caacccaccacaccggtttcctccttcacatctggctccatgttgggccgaacagacaca
gccctcacaaacacctacagcgctctgccgcctatgcccagcttcaccatggcaaataac
ctgcctatgcaacccccagtccccagccagacctcctcatactcctgcatgctgcccacc
agcccttcggtgaatgggcggagttatgatacctacacccccccacatatgcagacacac
atgaacagtcagccaatgggcacctcgggcaccacttcaacaggactcatttcccctggt
gtgtcagttccagttcaagttcccggaagtgaacctgatatgtctcaatactggccaaga
ttacagtaa

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