Bos taurus Gene: PAX6
Summary
InnateDB Gene IDBG-636216.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PAX6
Gene Name Paired box protein Pax-6
Synonyms pax-6;
Species Bos taurus
Ensembl Gene ENSBTAG00000004561
Encoded Proteins
Paired box protein Pax-6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000007372:
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter's anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
This gene encodes paired box gene 6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to the hallmark feature of this gene family, a conserved paired box domain, the encoded protein also contains a homeo box domain. Both domains are known to bind DNA and function as regulators of gene transcription. This gene is expressed in the developing nervous system, and in developing eyes. Mutations in this gene are known to cause ocular disorders such as aniridia and Peter\'s anomaly. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:63356631-63384294
Strand Reverse strand
Band
Transcripts
ENSBTAT00000005994 ENSBTAP00000005994
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 39 interaction(s) predicted by orthology.
Predicted by orthology
Total 39 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0004842 ubiquitin-protein transferase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0031625 ubiquitin protein ligase binding
GO:0035035 histone acetyltransferase binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0070410 co-SMAD binding
GO:0070412 R-SMAD binding
GO:0071837 HMG box domain binding
Biological Process
GO:0001568 blood vessel development
GO:0001709 cell fate determination
GO:0001764 neuron migration
GO:0002052 positive regulation of neuroblast proliferation
GO:0002088 lens development in camera-type eye
GO:0003309 type B pancreatic cell differentiation
GO:0003322 pancreatic A cell development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007224 smoothened signaling pathway
GO:0007275 multicellular organismal development
GO:0007409 axonogenesis
GO:0007411 axon guidance
GO:0007420 brain development
GO:0007435 salivary gland morphogenesis
GO:0008285 negative regulation of cell proliferation
GO:0009611 response to wounding
GO:0009950 dorsal/ventral axis specification
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0010468 regulation of gene expression
GO:0010628 positive regulation of gene expression
GO:0016567 protein ubiquitination
GO:0021543 pallium development
GO:0021778 oligodendrocyte cell fate specification
GO:0021796 cerebral cortex regionalization
GO:0021797 forebrain anterior/posterior pattern specification
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021902 commitment of neuronal cell to specific neuron type in forebrain
GO:0021905 forebrain-midbrain boundary formation
GO:0021912 regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification
GO:0021913 regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification
GO:0021918 regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment
GO:0021978 telencephalon regionalization
GO:0021983 pituitary gland development
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030154 cell differentiation
GO:0030216 keratinocyte differentiation
GO:0030334 regulation of cell migration
GO:0030858 positive regulation of epithelial cell differentiation
GO:0030900 forebrain development
GO:0032808 lacrimal gland development
GO:0033365 protein localization to organelle
GO:0042462 eye photoreceptor cell development
GO:0042593 glucose homeostasis
GO:0043010 camera-type eye development
GO:0045165 cell fate commitment
GO:0045665 negative regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048505 regulation of timing of cell differentiation
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048708 astrocyte differentiation
GO:0050680 negative regulation of epithelial cell proliferation
GO:0050767 regulation of neurogenesis
GO:0050768 negative regulation of neurogenesis
GO:0060041 retina development in camera-type eye
GO:0061072 iris morphogenesis
GO:0061303 cornea development in camera-type eye
Cellular Component
GO:0000790 nuclear chromatin
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Peptide hormone metabolism pathway
Incretin synthesis, secretion, and inactivation pathway
Regulation of gene expression in early pancreatic precursor cells pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Regulation of gene expression in beta cells pathway
Regulation of beta-cell development pathway
Metabolism of proteins pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
Developmental Biology pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Developmental Biology pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Regulation of beta-cell development pathway
Incretin synthesis, secretion, and inactivation pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
Metabolism of proteins pathway
Regulation of gene expression in beta cells pathway
Peptide hormone metabolism pathway
Incretin synthesis, secretion, and inactivation pathway
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) pathway
Metabolism of proteins pathway
Peptide hormone metabolism pathway
Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) pathway
KEGG
Maturity onset diabetes of the young pathway
Maturity onset diabetes of the young pathway
INOH
PID BIOCARTA
PID NCI
CDC42 signaling events
Cross-References
SwissProt Q1LZF1
TrEMBL Q7M308
UniProt Splice Variant
Entrez Gene 286857
UniGene Bt.11759
RefSeq NM_001040645
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL BC116038
GenPept AAI16039
RNA Seq Atlas 286857
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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