PHC1 (polyhomeotic homolog 1)

2014-11-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
EDR1,HPH1,MCPH11,RAE28
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
186503812008Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity.28
234183082013Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis.0

Citation

Dessen P

PHC1 (polyhomeotic homolog 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71878/phc1