PHC1 (polyhomeotic homolog 1)

2014-11-01  

Identity

HGNC
PHC1
LOCATION
12p13.31
LOCUSID
1911
ALIAS
EDR1,HPH1,MCPH11,RAE28
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1911
MIM: 602978
HGNC: 3182
Ensembl: ENSG00000111752

Variants:

dbSNP: 1911
ClinVar: 1911
TCGA: ENSG00000111752
COSMIC: PHC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111752ENST00000433083J3KQH6
ENSG00000111752ENST00000535510H0YGZ1
ENSG00000111752ENST00000537610H0YGK7
ENSG00000111752ENST00000538657F5H6F5
ENSG00000111752ENST00000539063F5H6P9
ENSG00000111752ENST00000540574F5GZP4
ENSG00000111752ENST00000541181F5H0T9
ENSG00000111752ENST00000542346H0YH74
ENSG00000111752ENST00000543824P78364
ENSG00000111752ENST00000544539F5H6F9
ENSG00000111752ENST00000544916P78364

Expression (GTEx)

0
10
20
30
40
50
60
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
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
Oxidative Stress Induced SenescenceREACTOMER-HSA-2559580
SUMOylation of RNA binding proteinsREACTOMER-HSA-4570464

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
339905592021PHC1 maintains pluripotency by organizing genome-wide chromatin interactions of the Nanog locus.12
339905592021PHC1 maintains pluripotency by organizing genome-wide chromatin interactions of the Nanog locus.12
234183082013Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.45
234183082013Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.45
186503812008Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.31
186503812008Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.31

Citation

Dessen P

PHC1 (polyhomeotic homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71878/phc1-(polyhomeotic-homolog-1)