Aliases for HIC1 Gene
External Ids for HIC1 Gene
Previous GeneCards Identifiers for HIC1 Gene
This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
GeneCards Summary for HIC1 Gene
HIC1 (Hypermethylated In Cancer 1) is a Protein Coding gene. Diseases associated with HIC1 include Miller-Dieker Lissencephaly Syndrome and Medulloblastoma. Among its related pathways are E2F transcription factor network and Direct p53 effectors. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and histone deacetylase binding. An important paralog of this gene is ENSG00000254553.
UniProtKB/Swiss-Prot for HIC1 Gene
Transcriptional repressor. Recognizes and binds to the consensus sequence 5-[CG]NG[CG]GGGCA[CA]CC-3. May act as a tumor suppressor. May be involved in development of head, face, limbs and ventral body wall. Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1. The regulation of SIRT1 transcription in response to nutrient deprivation seems to involve CTBP1. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex. Probably represses transcription from ACKR3, FGFBP1 and EFNA1.