Human Gene HIC1 (ENST00000619757.5) from GENCODE V44
  Description: Homo sapiens HIC ZBTB transcriptional repressor 1 (HIC1), transcript variant 1, mRNA. (from RefSeq NM_006497)
RefSeq Summary (NM_006497): 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].
Gencode Transcript: ENST00000619757.5
Gencode Gene: ENSG00000177374.13
Transcript (Including UTRs)
   Position: hg38 chr17:2,055,103-2,063,241 Size: 8,139 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr17:2,056,691-2,058,835 Size: 2,145 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:2,055,103-2,063,241)mRNA (may differ from genome)Protein (714 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HIC1_HUMAN
DESCRIPTION: RecName: Full=Hypermethylated in cancer 1 protein; Short=Hic-1; AltName: Full=Zinc finger and BTB domain-containing protein 29;
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 CXCR7, FGFBP1 and EFNA1.
SUBUNIT: 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.
INTERACTION: O14497:ARID1A; NbExp=2; IntAct=EBI-2507362, EBI-637887; Q13363:CTBP1; NbExp=4; IntAct=EBI-2507362, EBI-908846; O88712:Ctbp1 (xeno); NbExp=8; IntAct=EBI-2507362, EBI-604547; P56545:CTBP2; NbExp=2; IntAct=EBI-2507362, EBI-741533; P56546:Ctbp2 (xeno); NbExp=2; IntAct=EBI-2507362, EBI-1384883;
SUBCELLULAR LOCATION: Nucleus.
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.
DOMAIN: The BTB domain inhibits the binding to a single consensus binding site, but mediates cooperative binding to multiple binding sites.
PTM: Acetylated on several residues, including Lys-333. Lys-333 is deacetylated by SIRT1.
PTM: Sumoylated on Lys-333 by a PIAS family member, which enhances interaction with MTA1, positively regulates transcriptional repression activity and is enhanced by HDAC4.
MISCELLANEOUS: The HIC1 gene is frequently found epigenetically silenced or deleted in different types of solid tumors.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 5 C2H2-type zinc fingers.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/HIC1ID40819ch17p13.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HIC1
Diseases sorted by gene-association score: miller-dieker lissencephaly syndrome* (18), medulloblastoma (4), spinal cord ependymoma (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.39 RPKM in Ovary
Total median expression: 208.38 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -69.40156-0.445 Picture PostScript Text
3' UTR -1893.004406-0.430 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00651 - BTB/POZ domain
PF00096 - Zinc finger, C2H2 type

ModBase Predicted Comparative 3D Structure on Q14526
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage
GO:0016055 Wnt signaling pathway
GO:0030178 negative regulation of Wnt signaling pathway
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator

Cellular Component:
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  CU687965 - Synthetic construct Homo sapiens gateway clone IMAGE:100022848 3' read SMG6 mRNA.
AJ550616 - Homo sapiens partial mRNA for hypermethylated in cancer 1 (HIC1 gene).
AJ583693 - Homo sapiens HIC1 gene, 5'UTR, cell line BREP 270898.
AJ583694 - Homo sapiens HIC1 gene, 5'UTR, cell line BREP 73105.
BC030208 - Homo sapiens hypermethylated in cancer 1, mRNA (cDNA clone IMAGE:5207336), partial cds.
DQ187313 - Homo sapiens truncated HIC1 protein (HIC1) mRNA, complete cds.
AB590556 - Synthetic construct DNA, clone: pFN21AB9759, Homo sapiens HIC1 gene for hypermethylated in cancer 1, without stop codon, in Flexi system.
BC156194 - Synthetic construct Homo sapiens clone IMAGE:100061562, MGC:190028 hypermethylated in cancer 1 (HIC1) mRNA, encodes complete protein.
BC157027 - Synthetic construct Homo sapiens clone IMAGE:100063349, MGC:190753 hypermethylated in cancer 1 (HIC1) mRNA, encodes complete protein.
DQ583687 - Homo sapiens piRNA piR-50799, complete sequence.
JD126125 - Sequence 107149 from Patent EP1572962.
JD459104 - Sequence 440128 from Patent EP1572962.
JD191030 - Sequence 172054 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_p53hypoxiaPathway - Hypoxia and p53 in the Cardiovascular system

Reactome (by CSHL, EBI, and GO)

Protein Q14526 (Reactome details) participates in the following event(s):

R-HSA-4090281 PIAS1,2-1 SUMOylate HIC1 with SUMO1
R-HSA-3232118 SUMOylation of transcription factors
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-2990846 SUMOylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTI4, ENST00000619757.1, ENST00000619757.2, ENST00000619757.3, ENST00000619757.4, HIC1_HUMAN, NM_006497, Q14526, uc002fty.1, uc002fty.2, uc002fty.3, uc002fty.4, uc002fty.5, uc002fty.6, ZBTB29
UCSC ID: ENST00000619757.5
RefSeq Accession: NM_006497
Protein: Q14526 (aka HIC1_HUMAN)
CCDS: CCDS42230.1, CCDS42229.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.