Paired box protein Pax-6

NamePaired box protein Pax-6
Synonyms
  • AN2
  • Aniridia type II protein
  • Oculorhombin
Gene NamePAX6
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009255|Paired box protein Pax-6
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
Number of residues422
Molecular Weight46683.075
Theoretical pINot Available
GO Classification
Functions
  • transcription factor activity, sequence-specific DNA binding
  • DNA binding
  • transcription factor binding
  • R-SMAD binding
  • ubiquitin-protein transferase activity
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • RNA polymerase II core promoter sequence-specific DNA binding
  • histone acetyltransferase binding
  • protein kinase binding
Processes
  • organ morphogenesis
  • eye development
  • central nervous system development
  • protein ubiquitination
  • visual perception
  • transcription from RNA polymerase II promoter
  • glucose homeostasis
  • negative regulation of neurogenesis
  • blood vessel development
  • iris morphogenesis
  • positive regulation of transcription, DNA-templated
  • neuron fate commitment
  • positive regulation of transcription from RNA polymerase II promoter
  • cornea development in camera-type eye
  • response to wounding
  • pancreatic A cell development
  • positive regulation of gene expression
Components
  • cytoplasm
  • nucleus
  • nucleoplasm
  • nuclear chromatin
General FunctionUbiquitin-protein transferase activity
Specific FunctionTranscription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Isoform 5a appears to function as a molecular switch that specifies target genes.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP26367
UniProtKB Entry NamePAX6_HUMAN
Cellular LocationNucleus
Gene sequence
>lcl|BSEQ0021735|Paired box protein Pax-6 (PAX6)
ATGCAGAACAGTCACAGCGGAGTGAATCAGCTCGGTGGTGTCTTTGTCAACGGGCGGCCA
CTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAGCTCACAGCGGGGCCCGGCCGTGC
GACATTTCCCGAATTCTGCAGGTGTCCAACGGATGTGTGAGTAAAATTCTGGGCAGGTAT
TACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCGACT
CCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGG
GAAATCCGAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGCGTG
TCATCAATAAACAGAGTTCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGAC
GGCATGTATGATAAACTAAGGATGTTGAACGGGCAGACCGGAAGCTGGGGCACCCGCCCT
GGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTACGCAAGATGGCTGCCAGCAACAG
GAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGATTCAGATGAGGCT
CAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTACCCAAGAG
CAAATTGAGGCCCTGGAGAAAGAGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGA
GAAAGACTAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAGGTATGGTTTTCTAAT
CGAAGGGCCAAATGGAGAAGAGAAGAAAAACTGAGGAATCAGAGAAGACAGGCCAGCAAC
ACACCTAGTCATATTCCTATCAGCAGTAGTTTCAGCACCAGTGTCTACCAACCAATTCCA
CAACCCACCACACCGGTTTCCTCCTTCACATCTGGCTCCATGTTGGGCCGAACAGACACA
GCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTCACCATGGCAAATAAC
CTGCCTATGCAACCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCCACC
AGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCACATATGCAGACACAC
ATGAACAGTCAGCCAATGGGCACCTCGGGCACCACTTCAACAGGACTCATTTCCCCTGGT
GTGTCAGTTCCAGTTCAAGTTCCCGGAAGTGAACCTGATATGTCTCAATACTGGCCAAGA
TTACAGTAA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:8620
Chromosome Location11
LocusNot Available
References
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