PITX1

Paired-like homeodomain 1 is a protein that in humans is encoded by the PITX1 gene.^[5][6][7]

PITX1
Identifiers
Aliases	PITX1, BFT, CCF, LBNBG, POTX, PTX1, paired like homeodomain 1
External IDs	OMIM: 602149; MGI: 107374; HomoloGene: 20584; GeneCards: PITX1; OMA:PITX1 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q31.1 Start 135,027,734 bp[1] End 135,034,813 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 B1|13 30.06 cM Start 55,972,864 bp[2] End 55,984,005 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of pharynx pituitary gland oral mucosa minor salivary glands anterior pituitary gums gingival epithelium gastric mucosa muscle of thigh olfactory zone of nasal mucosa Top expressed in oral mucosa wall of esophagus mucosa of esophagus epithelium of esophagus Rathke's pouch mandibular prominence yolk sac mandible submandibular gland muscle of anterior abdominal wall More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding protein binding DNA-binding transcription factor activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm transcription regulator complex nucleolus nucleus Biological process skeletal system development pituitary gland development regulation of transcription, DNA-templated anatomical structure morphogenesis transcription by RNA polymerase II hindlimb morphogenesis transcription, DNA-templated multicellular organism development cartilage development myoblast fate commitment negative regulation of transcription, DNA-templated branchiomeric skeletal muscle development positive regulation of transcription by RNA polymerase II embryonic hindlimb morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5307 18740 Ensembl ENSG00000069011 ENSMUSG00000021506 UniProt P78337 P70314 RefSeq (mRNA) NM_002653 NM_011097 RefSeq (protein) NP_002644 NP_035227 Location (UCSC) Chr 5: 135.03 – 135.03 Mb Chr 13: 55.97 – 55.98 Mb PubMed search [3] [4]
Wikidata
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Function

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin.^[7]

Clinical relevance

Mutations in this gene have been associated with autism,^[8] club foot^[9] and polydactyly^[10] in humans.

Genetic basis of pathologies

Genomic rearrangements at the PITX1 locus are associated with Liebenberg syndrome.^[11] In PITX1 Liebenberg is associated with a translocation or deletions, which cause insert promoter groups into the PITX1 locus.^[11] A missense mutation within the PITX1 locus is associated with the development of autosomal dominant clubfoot.^[9]

Interactions

PITX1 has been shown to interact with pituitary-specific positive transcription factor 1.^[12]