GRHL1 (grainyhead like transcription factor 1)

2015-03-01  

Identity

HGNC
GRHL1
LOCATION
2p25.1
LOCUSID
29841
ALIAS
LBP32,MGR,NH32,TFCP2L2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 29841
MIM: 609786
HGNC: 17923
Ensembl: ENSG00000134317

Variants:

dbSNP: 29841
ClinVar: 29841
TCGA: ENSG00000134317
COSMIC: GRHL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134317ENST00000324907Q9NZI5
ENSG00000134317ENST00000405379Q9NZI5
ENSG00000134317ENST00000439493F8WFB0
ENSG00000134317ENST00000464418B7Z1S6
ENSG00000134317ENST00000472167Q9NZI5
ENSG00000134317ENST00000480736C9JYY8

Expression (GTEx)

0
50
100
150
200
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

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

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
123937992002Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28.26
244190852014GRHL1 acts as tumor suppressor in neuroblastoma and is negatively regulated by MYCN and HDAC3.18
260692692015Recent discoveries concerning the involvement of transcription factors from the Grainyhead-like family in cancer.18
254063942014Downregulation of miR122 by grainyhead-like 2 restricts the hepatocytic differentiation potential of adult liver progenitor cells.14
287149582017Roles of Grainyhead-like transcription factors in cancer.13
293096422018Structural basis of gene regulation by the Grainyhead/CP2 transcription factor family.6
180049792008LBP-1b, LBP-9, and LBP-32/MGR detected in syncytiotrophoblasts from first-trimester human placental tissue and their transcriptional regulation.5
243757982014Grainyhead-like 2 (GRHL2) distribution reveals novel pathophysiological differences between human idiopathic pulmonary fibrosis and mouse models of pulmonary fibrosis.5
258962822015Grhl1 deficiency affects inner ear development in zebrafish.4
270355582016Role of estrogen receptor in breast cancer cell gene expression.3

Citation

Dessen P

GRHL1 (grainyhead like transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-03-01

Online version: http://atlasgeneticsoncology.org/gene/55619/grhl1