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FLASH GENE

Symbol

PITX1

contributors: mct/npt - updated : 06-11-2011

HGNC name	paired-like homeodomain 1
HGNC id	9004

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002653 3 - 2383 34 314 - 2005 15960973

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon   moderately   mouth tooth     highly Reproductive female system uterus cervix   predominantly Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell Nervous optic nerve

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	Rathke pouch at an early stage of pituitary development, posterior (hind)limb, craniofacial tissues
	in both mandible and developing teeth (Mitsiadis 2008)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	POU specific and POU homeo (helix-turn-helix) domains
	the C terminal OAR domain found in homeo domain proteins

HOMOLOGY

interspecies	homolog to Drosophila bicoid
	homolog to mammalian homeobox backfoot

Homologene

FAMILY

homeodomain family of DNA binding protein

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	a pituitary hormone panactivator also involved in alpha subunit gene expression
	involved in regulation of transcription, DNA-dependent
	suppressing tumorigenicity by downregulating the RAS pathway through RASAL1
	playing an important role in hindlimb development
	bicoid-related homeodomain factor that exhibits preferential expression in the developing hindlimb, mandible, pituitary gland and teeth (Mitsiadis 2008)

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	development of hind/limb and protein structures, upstream TBX4
	development of anterior structures, pituitary and craniofacial
	specification of hind-limb specific morphology, upstream of TBX4

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	targeting the promoter domain of prolactin
	TRAPPC2 interaction with the transcription factors ENO1, PITX1 and SF1
	TERT suppressor gene (PITX1 suppresses TERT transcription through direct binding to the TERT promoter, which ultimately regulates telomerase activity)
	PITX1 protein can further diffuse to additional myonuclei and expand the transcriptional deregulation cascade initiated by DUX4 in FSHMD1A
	potent BARX1 functions in intestinal rotation and stomach myogenesis occur through ISL1, PITX1, SIX2 and PITX2, intermediary transcription factors

cell & other

REGULATION

activated by

DUX4

repressed by

expressed with POMC in a subset of adult anterior pituitary cells

Other

overexpression of ABL1 induces tyrosine phosphorylation of PITX1, either directly or indirectly

ASSOCIATED DISORDERS

corresponding disease(s)

THCF , DEL5Q31.1 , LBNBG

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in patients with FSHD constitutional   deletion     results in micrognathia and abnormal morphology of the mandibular molars (Mitsiadis 2008) constitutional   deletion --low   Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice, . constitutional     --over   upon exposure to genotoxic stress, is associated with marked induction of apoptosis that is independent of TP53 status

Susceptibility

Variant & Polymorphism

Candidate gene	club feet, skeletal anomalies, cleft/high palate in del5q31 patients
Marker
Therapy target

ANIMAL & CELL MODELS