DISEASES

Disease-gene associations mined from literature

Literature associating HCFC1 and ulcerative blepharitis

HCFC1 [ENSP00000309555]

HCF C-terminal chain 1; Involved in control of the cell cycle (PubMed:10629049, PubMed:10779346, PubMed:15190068, PubMed:16624878, PubMed:23629655). Also antagonizes transactivation by ZBTB17 and GABP2; represses ZBTB17 activation of the p15(INK4b) promoter and inhibits its ability to recruit p300 . Coactivator for EGR2 and GABP2 . Tethers the chromatin modifying Set1/Ash2 histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histone deacetylase (HDAC) complexes (involved in the activation and repression of transcription, respectively) together . Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1 . As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues . Recruits KMT2E/MLL5 to E2F1 responsive promoters promoting transcriptional activation and thereby facilitates G1 to S phase transition . ECO:0000269|PubMed:10675337, ECO:0000269|PubMed:10779346, ECO:0000269|PubMed:12244100, ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:14532282, ECO:0000269|PubMed:15190068, ECO:0000269|PubMed:16624878, ECO:0000269|PubMed:20018852,

Synonyms:  HCFC1,  HCFC1p,  hHCFC1,  A6NEM2,  H7C1C4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM