Homo sapiens Gene: PITX3
Summary
InnateDB Gene IDBG-87840.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PITX3
Gene Name paired-like homeodomain 3
Synonyms ASMD; ASOD; CTPP4; CTRCT11; PTX3;
Species Homo sapiens
Ensembl Gene ENSG00000107859
Encoded Proteins
paired-like homeodomain 3
paired-like homeodomain 3
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:102230186-102241474
Strand Reverse strand
Band q24.32
Transcripts
ENST00000370002 ENSP00000359019
ENST00000539804 ENSP00000439383
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
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:0003700 sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0002088 lens development in camera-type eye
GO:0002089 lens morphogenesis in camera-type eye
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007626 locomotory behavior
GO:0009887 organ morphogenesis
GO:0010468 regulation of gene expression
GO:0030901 midbrain development
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048666 neuron development
GO:0070306 lens fiber cell differentiation
GO:0071542 dopaminergic neuron differentiation
Cellular Component
GO:0005634 nucleus
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt O75364
TrEMBL
UniProt Splice Variant
Entrez Gene 5309
UniGene Hs.137568
RefSeq NM_005029
HUGO HGNC:9006
OMIM 602669
CCDS CCDS7532
HPRD 04051
IMGT
EMBL AF041339 AL160011 BC011642
GenPept AAC24502 AAH11642 CAH71624
RNA Seq Atlas 5309