HIC1: Hypermethylated in Cancer 1

A tumor suppressor gene frequently silenced by promoter hypermethylation in various cancers.

Gene Information Card

Symbol HIC1
Full Name Hypermethylated in Cancer 1
Gene Type Protein coding
Chromosomal Location 17p13.3
NCBI Gene ID 3090 ncbi.nlm.nih.gov/gene/3090
Ensembl ID ENSG00000177374
UniProt ID Q14526
OMIM ID 603825
HGNC ID 4909
Aliases ZBTB29, ZNF901, MGC133041

Description

HIC1 (Hypermethylated in Cancer 1) encodes a transcriptional repressor that functions as a tumor suppressor. It is frequently silenced by promoter CpG island hypermethylation in various human cancers, including breast, colon, lung, and brain tumors. The protein contains a BTB/POZ domain and five C2H2 zinc finger motifs, and it represses transcription by recruiting histone deacetylase complexes. HIC1 plays roles in growth control, development, and response to DNA damage.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer Promoter hypermethylation silences HIC1 expression, contributing to tumorigenesis. PMID: 10655551
Colorectal Cancer HIC1 methylation is an early event in colorectal carcinogenesis. PMID: 11719428
Glioblastoma HIC1 loss via methylation promotes tumor growth and invasion. PMID: 15229650
Lung Cancer HIC1 hypermethylation is frequent in non-small cell lung cancer. PMID: 15355999
Prostate Cancer HIC1 methylation correlates with aggressive disease. PMID: 15696246

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 8.5 Medium
Lung 6.2 Low
Breast 5.1 Low
Colon 4.8 Low
Prostate 3.9 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 7.3 Embryonic kidney
HeLa 4.1 Cervical cancer
MCF7 2.5 Breast cancer, reduced expression
HCT116 1.8 Colorectal cancer, low due to methylation
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G Missense Rare Unknown functional impact
c.202C>T Nonsense Rare Premature truncation, loss of function
Promoter methylation Epigenetic Frequent in cancers Transcriptional silencing
Mutation functional classification

Loss of Function (LOF)

Promoter hypermethylation and nonsense mutations lead to loss of HIC1 tumor suppressor activity.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Pathways

• Transcriptional misregulation in cancer (KEGG: hsa05202)
• p53 signaling pathway (indirect regulation)

Protein Summary

The HIC1 protein is a 714-amino acid transcriptional repressor containing an N-terminal BTB/POZ domain and five C-terminal C2H2 zinc fingers. It binds to specific DNA sequences and recruits corepressor complexes, including histone deacetylases, to silence target genes involved in cell proliferation and survival. HIC1 is frequently inactivated by promoter hypermethylation in cancer, leading to derepression of oncogenic pathways.

Related Products

Product name Cat.No. Species Gene ID
HIC1 Knockout HEK293 Cell Line EDJ-KQ50346 Human 3090 Details Get a Quote
HIC1 Knockout HeLa Cell Line EDJ-KQ53516 Human 3090 Details Get a Quote
HIC1 Knockout A-549 Cell Line EDJ-KQ61984 Human 3090 Details Get a Quote
HIC1 Knockout HCT 116 Cell Line EDJ-KQ70467 Human 3090 Details Get a Quote
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