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] See more...

Aliases for HIC1 Gene

Aliases for HIC1 Gene

  • HIC ZBTB Transcriptional Repressor 1 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 29 3 4
  • Hypermethylated In Cancer 1 Protein 3 4
  • Hypermethylated In Cancer 1 2 3
  • ZBTB29 3 4
  • Hic-1 3 4
  • ZNF901 3

External Ids for HIC1 Gene

Previous GeneCards Identifiers for HIC1 Gene

  • GC17P002266
  • GC17P002300
  • GC17P001910
  • GC17P002166
  • GC17P001906
  • GC17P001905
  • GC17P001958
  • GC17P001964
  • GC17P001967
  • GC17P001973

Summaries for HIC1 Gene

Entrez Gene Summary 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 (HIC ZBTB Transcriptional Repressor 1) is a Protein Coding gene. Diseases associated with HIC1 include Miller-Dieker Lissencephaly Syndrome and Medulloblastoma. Among its related pathways are Direct p53 effectors and E2F transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and histone deacetylase binding. An important paralog of this gene is HIC2.

UniProtKB/Swiss-Prot Summary 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.

Gene Wiki entry for HIC1 Gene

Additional gene information for HIC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIC1 Gene

Genomics for HIC1 Gene

GeneHancer (GH) Regulatory Elements for HIC1 Gene

Promoters and enhancers for HIC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIC1

Top Transcription factor binding sites by QIAGEN in the HIC1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-4
  • CP2
  • GATA-2
  • Max

Genomic Locations for HIC1 Gene

Genomic Locations for HIC1 Gene
chr17:2,054,154-2,063,241
(GRCh38/hg38)
Size:
9,088 bases
Orientation:
Plus strand
chr17:1,957,448-1,962,981
(GRCh37/hg19)
Size:
5,534 bases
Orientation:
Plus strand

Genomic View for HIC1 Gene

Genes around HIC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIC1 Gene

Proteins for HIC1 Gene

  • Protein details for HIC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14526-HIC1_HUMAN
    Recommended name:
    Hypermethylated in cancer 1 protein
    Protein Accession:
    Q14526
    Secondary Accessions:
    • D3DTI4

    Protein attributes for HIC1 Gene

    Size:
    733 amino acids
    Molecular mass:
    76508 Da
    Quaternary structure:
    • Self-associates. Interacts with HIC2. Interacts with CTBP1 and CTBP2. Interacts with TCF7L2 and ARID1A. Interacts with MTA1 and MBD3; indicative for an association with the NuRD complex.
    Miscellaneous:
    • The HIC1 gene is frequently found epigenetically silenced or deleted in different types of solid tumors.

    Alternative splice isoforms for HIC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIC1 Gene

Post-translational modifications for HIC1 Gene

  • Acetylated on several residues, including Lys-333. Lys-333 is deacetylated by SIRT1.
  • Sumoylated on Lys-333 by a PIAS family member, which enhances interaction with MTA1, positively regulates transcriptional repression activity and is enhanced by HDAC4.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HIC1 Gene

Domains & Families for HIC1 Gene

Gene Families for HIC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HIC1 Gene

Blocks:
  • BTB/POZ domain
  • C2H2-type zinc finger signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HIC1 Gene

GenScript: Design optimal peptide antigens:
  • Truncated HIC1 protein (A0MA52_HUMAN)
  • HIC1 protein (A0PJI1_HUMAN)
  • Zinc finger and BTB domain-containing protein 29 (HIC1_HUMAN)
  • Transcription factor (O95459_HUMAN)
  • Hypermethylated in cancer 1 (Q70SM2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14526

UniProtKB/Swiss-Prot:

HIC1_HUMAN :
  • The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
  • Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
Domain:
  • The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
genes like me logo Genes that share domains with HIC1: view

Function for HIC1 Gene

Molecular function for HIC1 Gene

UniProtKB/Swiss-Prot Function:
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.
GENATLAS Biochemistry:
zinc finger transcription factor gene,ubiquitously expressed in mesenchyme of the sclerotomes,lateral body wall,limb and craniofacial region,hypermethylated and underexpressed in tumor,deleted in the Miller-Dieker syndrome,putatively involved in the pathogenesis as suggested by the developmental defects observed in Hic1 deficient mice

Phenotypes From GWAS Catalog for HIC1 Gene

Gene Ontology (GO) - Molecular Function for HIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 15231840
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity TAS 7585125
genes like me logo Genes that share ontologies with HIC1: view
genes like me logo Genes that share phenotypes with HIC1: view

Human Phenotype Ontology for HIC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HIC1 Gene

MGI Knock Outs for HIC1:
  • Hic1 Hic1<tm1Sbb>
  • Hic1 Hic1<tm1.2Kori>
  • Hic1 Hic1<tm2.1Kori>

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HIC1 Gene

Localization for HIC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIC1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIC1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISS --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with HIC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HIC1 Gene

Pathways & Interactions for HIC1 Gene

PathCards logo

SuperPathways for HIC1 Gene

genes like me logo Genes that share pathways with HIC1: view

Pathways by source for HIC1 Gene

2 BioSystems pathways for HIC1 Gene

SIGNOR curated interactions for HIC1 Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for HIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0006355 regulation of transcription, DNA-templated TAS 7585125
GO:0006974 cellular response to DNA damage stimulus IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IEA,IDA 16269335
genes like me logo Genes that share ontologies with HIC1: view

Drugs & Compounds for HIC1 Gene

(3) Drugs for HIC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HIC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HIC1: view

Transcripts for HIC1 Gene

mRNA/cDNA for HIC1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIC1 Gene

No ASD Table

Relevant External Links for HIC1 Gene

GeneLoc Exon Structure for
HIC1

Expression for HIC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIC1 Gene

This gene is overexpressed in Adipocyte (22.9), Fetal ovary (21.4), Fetal gut (13.0), and Fetal testis (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HIC1 Gene



Protein tissue co-expression partners for HIC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIC1

SOURCE GeneReport for Unigene cluster for HIC1 Gene:

Hs.72956

mRNA Expression by UniProt/SwissProt for HIC1 Gene:

Q14526-HIC1_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels found in lung, colon, prostate, thymus, testis and ovary. Expression is absent or decreased in many tumor cells.

Evidence on tissue expression from TISSUES for HIC1 Gene

  • Liver(4.2)
  • Nervous system(4.1)
  • Lung(3.2)
  • Pancreas(2.9)
  • Intestine(2.8)
  • Eye(2.4)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HIC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • bronchus
  • heart
  • lung
  • trachea
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with HIC1: view

No data available for mRNA differential expression in normal tissues for HIC1 Gene

Orthologs for HIC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HIC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIC1 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HIC1 31 30
  • 94.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HIC1 31 30
  • 93.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912068 30
  • 89.18 (n)
mouse
(Mus musculus)
Mammalia Hic1 17 31 30
  • 88.4 (n)
oppossum
(Monodelphis domestica)
Mammalia HIC1 31
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIC1 31 30
  • 75.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIC1 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hic1 30
  • 65.66 (n)
zebrafish
(Danio rerio)
Actinopterygii hic1 31 30
  • 56.53 (n)
OneToOne
Species where no ortholog for HIC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HIC1 Gene

ENSEMBL:
Gene Tree for HIC1 (if available)
TreeFam:
Gene Tree for HIC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIC1: view image

Paralogs for HIC1 Gene

(29) SIMAP similar genes for HIC1 Gene using alignment to 7 proteins:

  • HIC1_HUMAN
  • A0MA52_HUMAN
  • A0PJI1_HUMAN
  • I3L388_HUMAN
  • K7ENQ1_HUMAN
  • Q70SM2_HUMAN
  • V9GYA4_HUMAN
genes like me logo Genes that share paralogs with HIC1: view

Variants for HIC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIC1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
712292 Benign: not provided 2,057,833(+) C/T SYNONYMOUS_VARIANT
713207 Benign: not provided 2,057,920(+) C/T SYNONYMOUS_VARIANT
718287 Benign: not provided 2,056,942(+) C/T SYNONYMOUS_VARIANT
720012 Benign: not provided 2,058,106(+) C/T SYNONYMOUS_VARIANT
723622 Likely Benign: not provided 2,058,088(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HIC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HIC1 Gene

Variant ID Type Subtype PubMed ID
esv24096 CNV loss 19812545
nsv574216 CNV gain 21841781
nsv574220 CNV loss 21841781
nsv827857 CNV gain 20364138
nsv952103 CNV deletion 24416366

Variation tolerance for HIC1 Gene

Gene Damage Index Score: 3.55; 55.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIC1 Gene

Disorders for HIC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HIC1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HIC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HIC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HIC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIC1 Gene

Publications for HIC1 Gene

  1. Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (hypermethylated in cancer 1). (PMID: 19525223) Van Rechem C … Leprince D (The Journal of biological chemistry 2009) 3 4 23 54
  2. An acetylation/deacetylation-SUMOylation switch through a phylogenetically conserved psiKXEP motif in the tumor suppressor HIC1 regulates transcriptional repression activity. (PMID: 17283066) Stankovic-Valentin N … Leprince D (Molecular and cellular biology 2007) 3 4 23 54
  3. A L225A substitution in the human tumour suppressor HIC1 abolishes its interaction with the corepressor CtBP. (PMID: 16762039) Stankovic-Valentin N … Leprince D (The FEBS journal 2006) 3 4 23 54
  4. HIC1 attenuates Wnt signaling by recruitment of TCF-4 and beta-catenin to the nuclear bodies. (PMID: 16724116) Valenta T … Korinek V (The EMBO journal 2006) 3 4 23 54
  5. The tumor suppressor gene HIC1 (hypermethylated in cancer 1) is a sequence-specific transcriptional repressor: definition of its consensus binding sequence and analysis of its DNA binding and repressive properties. (PMID: 15231840) Pinte S … Leprince D (The Journal of biological chemistry 2004) 3 4 23 54

Products for HIC1 Gene

Sources for HIC1 Gene