Gene

pitx1

ID
ZDB-GENE-060421-3623
Name
paired-like homeodomain 1
Symbol
pitx1 Nomenclature History
Previous Names
  • zgc:136976 (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have RNA polymerase II cis-regulatory region sequence-specific DNA binding activity and RNA polymerase II transcription factor binding activity. Predicted to be involved in anatomical structure morphogenesis. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in clubfoot. Is expressed in several structures, including adenohypophyseal placode; head; immature eye; non neural ectoderm; and pelvic fin bud. Orthologous to human PITX1 (paired like homeodomain 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pitx1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
clubfoot Alliance Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 119800
Associated With pitx1 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
Domain Details Per Protein
Protein Length Homedomain-like superfamily Homeobox, conserved site Homeobox protein Pitx/unc30 Homeodomain OAR domain
UniProtKB:A0A8M9P3F1 285
UniProtKB:A9Y0D5 285
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations