InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PITX1

Summary

InnateDB Protein

IDBP-474038.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PITX1

Protein Name

paired-like homeodomain 1

Synonyms

BFT; CCF; LBNBG; POTX; PTX1;

Species

Homo sapiens

Ensembl Protein

ENSP00000427542

InnateDB Gene

IDBG-45420 (PITX1)

Protein Structure

UniProt Annotation

Function

May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.

Subcellular Localization

Nucleus.

Disease Associations

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly. {ECO:0000269PubMed:18950742, ECO:0000269PubMed:22258522}. Note=The disease is caused by mutations affecting the gene represented in this entry.Liebenberg syndrome (LBNBG) [MIM:186550]: An upper limb- malformation syndrome characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. {ECO:0000269PubMed:23022097}. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving the PITX1 locus results in LBNBG. Translocation t(5;18)(q31.1;q12.3). Additionally, two chromosome 5 deletions located 5'of PITX1 have been found in LBNBG patients. These structural variations cause altered expression of PITX1 in the forelimb via the activation of ectopic enhancers (PubMed:23022097). {ECO:0000269PubMed:23022097}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 27 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	27 [view]
Protein-Protein	25 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding