Gene

pitx3

ID
ZDB-GENE-041229-4
Name
paired-like homeodomain 3
Symbol
pitx3 Nomenclature History
Previous Names
  • zgc:109716
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within adenohypophysis development; lens fiber cell differentiation; and positive regulation of DNA-templated transcription. Predicted to be active in nucleus. Is expressed in several structures, including ectoderm; head; immature eye; nervous system; and neurogenic field. Human ortholog(s) of this gene implicated in anterior segment dysgenesis; anterior segment dysgenesis 1; cataract; cataract 11 multiple types; and cataract 9 multiple types. Orthologous to human PITX3 (paired like homeodomain 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
65 figures from 38 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
hu3263Allele with one point mutationUnknownPremature StopENU
sa45Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
MO1-pitx3N/A (3)
MO2-pitx3N/AShi et al., 2005
MO3-pitx3N/A (3)
MO4-pitx3N/AShi et al., 2005
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Human Disease
Associated With pitx3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
anterior segment dysgenesis 1 Alliance Anterior segment dysgenesis 1, multiple subtypes 107250
cataract 11 multiple types Alliance Cataract 11, multiple types 610623
cataract 11 multiple types Alliance Cataract 11, syndromic, autosomal recessive 610623
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Associated With pitx3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017970 Homeobox, conserved site
Domain IPR001356 Homeodomain
Domain IPR003654 OAR domain
Family IPR016233 Homeobox protein Pitx/unc30
Homologous_superfamily IPR009057 Homedomain-like superfamily
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Domain Details Per Protein
Protein Additional Resources Length Homedomain-like superfamily Homeobox, conserved site Homeobox protein Pitx/unc30 Homeodomain OAR domain
UniProtKB:Q6QU75 InterPro 293
UniProtKB:A0A8M9QJL4 InterPro 207
UniProtKB:B2GRZ8 InterPro 293
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 13
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pitx3-201 (1) Ensembl 1,865 nt
mRNA pitx3-202 (1) Ensembl 884 nt
mRNA pitx3-203 (1) Ensembl 2,269 nt
mRNA pitx3-204 (1) Ensembl 921 nt
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Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pitx3 polyclonal IgG Rabbit
1
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Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(pitx3:EGFP)
  • pitx3
  • Danio rerio
1 (5)
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-183C23ZFIN Curated Data
Contained inBACDKEY-196H17ZFIN Curated Data
EncodescDNAMGC:109716ZFIN Curated Data
EncodescDNAMGC:192409ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPITX310
Conserved genome location (synteny) (1)
Amino acid sequence comparison (5)
Phylogenetic tree (1)
MousePitx319
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
Citations
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