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HIC1 HIC ZBTB transcriptional repressor 1 [ Homo sapiens (human) ]

Gene ID: 3090, updated on 5-Mar-2024

Summary

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Official Symbol
HIC1provided by HGNC
Official Full Name
HIC ZBTB transcriptional repressor 1provided by HGNC
Primary source
HGNC:HGNC:4909
See related
Ensembl:ENSG00000177374 MIM:603825; AllianceGenome:HGNC:4909
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hic-1; ZBTB29; ZNF901
Summary
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]
Expression
Broad expression in fat (RPKM 8.9), endometrium (RPKM 4.9) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2055103..2063241)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1942378..1950518)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1958397..1966535)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1954503-1955398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1961456-1961958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1968405-1969158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11466 Neighboring gene microRNA 212 Neighboring gene microRNA 132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:1974493-1975692 Neighboring gene uncharacterized LOC107984988 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1978509-1979198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1979199-1979889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1987859-1988771 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11470 Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11476 Neighboring gene MCUR1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The promoter methylation drives down-regulation mode of HIC1 in gastric cancer, its molecular characteristics and downstream functional pathways. Zhao T, et al. Gene, 2022 May 25. PMID 35276239
  2. Tumor suppressor HIC1 is synergistically compromised by cancer-associated fibroblasts and tumor cells through the IL-6/pSTAT3 axis in breast cancer. Sun X, et al. BMC Cancer, 2019 Dec 3. PMID 31795965, Free PMC Article
  3. Transcriptional Repressor HIC1 Contributes to Suppressive Function of Human Induced Regulatory T Cells. Ubaid Ullah, et al. Cell Rep, 2018 Feb 20. PMID 29466736, Free PMC Article
  4. Tandem repeat variation near the HIC1 (hypermethylated in cancer 1) promoter predicts outcome of oxaliplatin-based chemotherapy in patients with metastatic colorectal cancer. Okazaki S, et al. Cancer, 2017 Nov 15. PMID 28708932, Free PMC Article
  5. HIC1 modulates uveal melanoma progression by activating lncRNA-numb. Cheng G, et al. Tumour Biol, 2016 Sep. PMID 27449031

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HIC1 interacts with FOXP3 multi protein complex: Novel pleiotropic mechanisms to regulate human regulatory T cell differentiation and function.
    Title: HIC1 interacts with FOXP3 multi protein complex: Novel pleiotropic mechanisms to regulate human regulatory T cell differentiation and function.
  2. The promoter methylation drives down-regulation mode of HIC1 in gastric cancer, its molecular characteristics and downstream functional pathways.
    Title: The promoter methylation drives down-regulation mode of HIC1 in gastric cancer, its molecular characteristics and downstream functional pathways.
  3. Dysregulated HIC1 and RassF1A expression in vitro alters the cell cytoskeleton and exosomal Piwi-interacting RNA.
    Title: Dysregulated HIC1 and RassF1A expression in vitro alters the cell cytoskeleton and exosomal Piwi-interacting RNA.
  4. FBXW11 contributes to stem-cell-like features and liver metastasis through regulating HIC1-mediated SIRT1 transcription in colorectal cancer.
    Title: FBXW11 contributes to stem-cell-like features and liver metastasis through regulating HIC1-mediated SIRT1 transcription in colorectal cancer.
  5. DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
    Title: DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
  6. Phosphorylation of HIC1 (Hypermethylated in Cancer 1) Ser694 by ATM is essential for DNA repair.
    Title: Phosphorylation of HIC1 (Hypermethylated in Cancer 1) Ser694 by ATM is essential for DNA repair.
  7. Detection of aberrant methylation of HOXA9 and HIC1 through multiplex MethyLight assay in serum DNA for the early detection of epithelial ovarian cancer.
    Title: Detection of aberrant methylation of HOXA9 and HIC1 through multiplex MethyLight assay in serum DNA for the early detection of epithelial ovarian cancer.
  8. Low HIC1 expression is associated with bladder cancer progression.
    Title: Hypermethylated in cancer 1 (HIC1) suppresses bladder cancer progression by targeting yes-associated protein (YAP) pathway.
  9. IL-6 present in the tumor microenvironment downregulates the tumor suppressor HIC1 in breast cancer cells.
    Title: Tumor suppressor HIC1 is synergistically compromised by cancer-associated fibroblasts and tumor cells through the IL-6/pSTAT3 axis in breast cancer.
  10. HIC1 expression was downregulated in lung tumor tissues. Loss of HIC1 expression increased proliferation and migration. DNA repair pathway was associated with loss of HIC1.
    Title: Loss of hypermethylated in cancer 1 (HIC1) promotes lung cancer progression.
Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat 47-59 peptide downregulates gene expression of hypermethylated in cancer 1 (HIC1) in U-937 macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone deacetylase binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in intrinsic apoptotic signaling pathway in response to DNA damage IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of Wnt signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of DNA-templated transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
hypermethylated in cancer 1 protein
Names
hypermethylated in cancer 1
zinc finger and BTB domain-containing protein 29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027689.2 RefSeqGene

    Range
    5002..13140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001098202.1 → NP_001091672.1  hypermethylated in cancer 1 protein isoform 2

    See identical proteins and their annotated locations for NP_001091672.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC090617, BQ004706
    Consensus CDS
    CCDS42229.1
    UniProtKB/Swiss-Prot
    D3DTI4, Q14526
    Related
    ENSP00000314080.3, ENST00000322941.3
    Conserved Domains (6) summary
    PHA03247
    Location:223 → 325
    PHA03247; large tegument protein UL36; Provisional
    COG5048
    Location:501 → 613
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:537 → 557
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl38908
    Location:26 → 155
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00096
    Location:535 → 557
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:577 → 602
    zf-H2C2_2; Zinc-finger double domain

  2. NM_006497.4 → NP_006488.2  hypermethylated in cancer 1 protein isoform 1

    See identical proteins and their annotated locations for NP_006488.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC090617, AJ583694, BC030208, BQ004706
    Consensus CDS
    CCDS42230.1
    UniProtKB/Swiss-Prot
    Q14526
    UniProtKB/TrEMBL
    A0PJI1
    Related
    ENSP00000477858.1, ENST00000619757.5
    Conserved Domains (6) summary
    PHA03247
    Location:204 → 306
    PHA03247; large tegument protein UL36; Provisional
    COG5048
    Location:482 → 594
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:518 → 538
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl38908
    Location:7 → 136
    BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily
    pfam00096
    Location:516 → 538
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:558 → 583
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2055103..2063241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1942378..1950518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14526.5 GenPept UniProtKB/Swiss-Prot:Q14526

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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