PHF1 (PHD finger protein 1)

2006-08-01  

Identity

HGNC
PHF1
LOCATION
6p21.32
LOCUSID
5252
ALIAS
MTF2L2,PCL1,PHF2,TDRD19C,hPHF1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5252
MIM: 602881
HGNC: 8919
Ensembl: ENSG00000112511

Variants:

dbSNP: 5252
ClinVar: 5252
TCGA: ENSG00000112511
COSMIC: PHF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112511ENST00000374512O43189
ENSG00000112511ENST00000374512A0A1U9X8A3
ENSG00000112511ENST00000374516O43189
ENSG00000112511ENST00000427004A2AB22
ENSG00000112511ENST00000427826A2AB25
ENSG00000112511ENST00000428274A2AB23
ENSG00000112511ENST00000459809A0A087WVG4
ENSG00000112511ENST00000487667E9PQZ5
ENSG00000112511ENST00000495509E9PQT8

Expression (GTEx)

0
50
100
150
200
250
300
350
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
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
PRC2 methylates histones and DNAREACTOMER-HSA-212300

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
378195402024When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.0
378195402024When molecular outsmarts morphology: Malignant ossifying fibromyxoid tumors masquerading as osteosarcomas, including a novel CREBZF::PHF1 fusion.0
345600872021A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.1
345600872021A PHF1-TFE3 fusion atypical ossifying fibromyxoid tumor with prominent collagenous rosettes: Case report with a brief review.1
319326802020PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells.12
322371882020A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.9
331796132020Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.1
319326802020PHF1 fusions cause distinct gene expression and chromatin accessibility profiles in ossifying fibromyxoid tumors and mesenchymal cells.12
322371882020A novel MBTD1-PHF1 gene fusion in endometrial stromal sarcoma: A case report and literature review.9
331796132020Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.1
298466702018PHD finger protein 1 (PHF1) is a novel reader for histone H4R3 symmetric dimethylation and coordinates with PRMT5-WDR77/CRL4B complex to promote tumorigenesis.43
298466702018PHD finger protein 1 (PHF1) is a novel reader for histone H4R3 symmetric dimethylation and coordinates with PRMT5-WDR77/CRL4B complex to promote tumorigenesis.43
280823962017PHF1 Tudor and N-terminal domains synergistically target partially unwrapped nucleosomes to increase DNA accessibility.18
280823962017PHF1 Tudor and N-terminal domains synergistically target partially unwrapped nucleosomes to increase DNA accessibility.18
259235372015An aromatic cage is required but not sufficient for binding of Tudor domains of the Polycomblike protein family to H3K36me3.13

Citation

Dessen P

PHF1 (PHD finger protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-08-01

Online version: http://atlasgeneticsoncology.org/gene/42976/js/lib/haematological-explorer/gene-explorer/