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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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 InterPro	285
UniProtKB:A9Y0D5 InterPro	285

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pitx1-201 (1) Ensembl	Ensembl	2,051 nt	Select Tool ZFIN BLAST
mRNA	pitx1-202 (1) Ensembl	Ensembl	1,040 nt	Select Tool ZFIN BLAST
mRNA	pitx1-203 (1) Ensembl	Ensembl	2,118 nt	Select Tool ZFIN BLAST

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