PITX1

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)
End	135,034,813 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	55,984,005 bp
RNA expression pattern
	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
	; ;
	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
	5307
	18740
	ENSG00000069011
	ENSMUSG00000021506
	P78337
	P70314
	NM_002653
	NM_011097
	NP_002644
	NP_035227
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000069011 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021506 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome. 8 (11): 841–5. CiteSeerX 10.1.1.326.9619. doi:10.1007/s003359900589. PMID 9337397. S2CID 8557603.
^ Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.
^ "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000069011 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021506 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9337397-5] Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome. 8 (11): 841–5. CiteSeerX 10.1.1.326.9619. doi:10.1007/s003359900589. PMID 9337397. S2CID 8557603.

[pmid9070926-6] Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.

[entrez-7] "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".

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