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Aliases for HIC1 Gene

Aliases for HIC1 Gene

  • Hypermethylated In Cancer 1 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 29 3 4
  • 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 (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 Direct p53 effectors and E2F transcription factor network. 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.

Gene Wiki entry for HIC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIC1 Gene

Genomics for HIC1 Gene

Regulatory Elements for HIC1 Gene

Promoters for HIC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HIC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HIC1 Gene

Chromosome:
17
Start:
2,054,154 bp from pter
End:
2,063,241 bp from pter
Size:
9,088 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

Proteomics data for HIC1 Gene at MOPED

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

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.
  • Contains 5 C2H2-type zinc fingers.
Domain:
  • The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
Similarity:
  • Contains 5 C2H2-type zinc fingers.
genes like me logo Genes that share domains with HIC1: view

Function for HIC1 Gene

Molecular function for HIC1 Gene

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
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.
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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for HIC1 Gene COMPARTMENTS Subcellular localization image for HIC1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for HIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with HIC1: view

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for HIC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0007275 multicellular organism development IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IDA 16269335
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with HIC1: view

No data available for SIGNOR curated interactions for HIC1 Gene

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

Unigene Clusters for HIC1 Gene

Hypermethylated in cancer 1:
Representative Sequences:

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

No ASD Table

Relevant External Links for HIC1 Gene

GeneLoc Exon Structure for
HIC1
ECgene alternative splicing isoforms for
HIC1

Expression for HIC1 Gene

mRNA expression in normal human tissues 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, PaxDb, and MOPED for HIC1 Gene



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.
genes like me logo Genes that share expression patterns with HIC1: view

Protein tissue co-expression partners for HIC1 Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia HIC1 35
  • 94.22 (n)
  • 98.38 (a)
HIC1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HIC1 35
  • 93.26 (n)
  • 96.86 (a)
HIC1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hic1 35
  • 88.4 (n)
  • 95.42 (a)
Hic1 16
Hic1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912068 35
  • 89.18 (n)
  • 95.41 (a)
oppossum
(Monodelphis domestica)
Mammalia HIC1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HIC1 36
  • 98 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIC1 35
  • 75.97 (n)
  • 73.05 (a)
HIC1 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HIC1 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hic1 35
  • 65.66 (n)
  • 67.83 (a)
zebrafish
(Danio rerio)
Actinopterygii hic1 35
  • 56.53 (n)
  • 55.29 (a)
hic1 36
  • 49 (a)
OneToOne
Species with no ortholog for HIC1:
  • 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)

Paralogs for HIC1 Gene

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

Variants for HIC1 Gene

Sequence variations from dbSNP and Humsavar for HIC1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1063317 - 2,058,806(+) ACGGC(C/G)GGACC reference, missense
rs4455005 -- 2,055,242(+) AGGTG(A/G)GTCCT intron-variant, upstream-variant-2KB
rs4480845 -- 2,055,315(+) TCGGG(C/T)GCATC intron-variant, upstream-variant-2KB
rs8065350 -- 2,054,303(+) GAGAA(A/G)AAGTC upstream-variant-2KB
rs8065820 -- 2,054,599(+) GATAG(A/G)GCTGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv907523 CNV Loss 21882294
nsv827857 CNV Gain 20364138
nsv907526 CNV Loss 21882294
dgv3035n71 CNV Loss 21882294
esv24096 CNV Loss 19812545

Variation tolerance for HIC1 Gene

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

Relevant External Links for HIC1 Gene

HapMap Linkage Disequilibrium report
HIC1

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

Disorder Aliases PubMed IDs
miller-dieker lissencephaly syndrome
  • mds
medulloblastoma
  • medulloblastoma, desmoplastic
spinal cord ependymoma
  • ependymal neoplasm of the spinal cord
- elite association - COSMIC cancer census association via MalaCards
Search HIC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HIC1

Genetic Association Database (GAD)
HIC1
Human Genome Epidemiology (HuGE) Navigator
HIC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIC1
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. 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. (Mol. Cell. Biol. 2007) 3 4 23 67
  2. The tumor suppressor gene hypermethylated in cancer 1 is transcriptionally regulated by E2F1. (PMID: 19491197) Jenal M. … Tschan M.P. (Mol. Cancer Res. 2009) 3 23
  3. 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. (J. Biol. Chem. 2009) 3 23
  4. Detailed mapping of chromosome 17p deletions reveals HIC1 as a novel tumor suppressor gene candidate telomeric to TP53 in diffuse large B-cell lymphoma. (PMID: 17982487) StAPcklein H. … Kalla J. (Oncogene 2008) 3 23
  5. [Chromosome arm 17p13.3: could HIC1 be the one ?]. (PMID: 16386221) Chopin V. … Leprince D. (Med Sci (Paris) 2006) 3 23

Products for HIC1 Gene

Sources for HIC1 Gene

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