PITX1 (paired like homeodomain 1)

2007-02-01  

Identity

HGNC
PITX1
LOCATION
5q31.1
LOCUSID
5307
ALIAS
BFT,CCF,LBNBG,POTX,PTX1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5307
MIM: 602149
HGNC: 9004
Ensembl: ENSG00000069011

Variants:

dbSNP: 5307
ClinVar: 5307
TCGA: ENSG00000069011
COSMIC: PITX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069011ENST00000265340P78337
ENSG00000069011ENST00000265340X5D9A5
ENSG00000069011ENST00000502676D6R955
ENSG00000069011ENST00000506438P78337
ENSG00000069011ENST00000506438X5D9A5
ENSG00000069011ENST00000507253D6R9U1

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
179840562007DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1.155
232062572013DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?44
189507422008Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.42
213007822011Identification of PITX1 as a TERT suppressor gene located on human chromosome 5.32
177628842007Transcriptional activation of p53 by Pitx1.30
230220972012Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus.29
162913942005Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma.25
224380682012Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma.23
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
181865702008Expression of pituitary homeobox 1 gene in human gastric carcinogenesis and its clinicopathological significance.15

Citation

Dessen P

PITX1 (paired like homeodomain 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46355/pitx1