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

Summary

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: mouse all
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Genomic context

Location:: 17p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (2055103..2063241)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (1942378..1950518)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (1958397..1966535)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
Title: DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk.
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.
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.
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.
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.
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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54866 (e-PCR)
- UniSTS:164096

G54867 (e-PCR)
- UniSTS:164097

G54868 (e-PCR)
- UniSTS:164098

G54869 (e-PCR)
- UniSTS:164099

G54752 (e-PCR)
- UniSTS:164100

G54870 (e-PCR)
- UniSTS:164101

Hic1 (e-PCR), detects polymorphism
- UniSTS:498503

RH78924 (e-PCR)
- UniSTS:61512

WI-11584 (e-PCR)
- UniSTS:21922

D17S30_-_XTB4 (e-PCR)
- UniSTS:164016

HIC1 (e-PCR)
- UniSTS:266692

G54863 (e-PCR)
- UniSTS:164088

G54871 (e-PCR)
- UniSTS:164089

G54872 (e-PCR)
- UniSTS:164090

G54874 (e-PCR)
- UniSTS:164092

G54875 (e-PCR)
- UniSTS:164093

G54864 (e-PCR)
- UniSTS:164094

G54865 (e-PCR)
- UniSTS:164095

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
located_in 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

NG_027689.2 RefSeqGene

Range

5002..13140

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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