• Gene id: 3090

Gene Summary

• Gene Symbol: HIC1   Gene   UCSC   Ensembl
• Aliases: ZBTB29, ZNF901, hic-1
• Gene name: HIC ZBTB transcriptional repressor 1
• Alternate names: hypermethylated in cancer 1 protein, hypermethylated in cancer 1, zinc finger and BTB domain-containing protein 29,
• Gene location: 17p13.3 (2055102: 2063240)     Exons: 3     NC_000017.11
• Gene summary(Entrez): 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 resul
• OMIM: 613197

Protein Summary

• Protein general information: Q14526  
  • Name: Hypermethylated in cancer 1 protein (Hic 1) (Zinc finger and BTB domain containing protein 29)
  • Length: 733  
  • Mass: 76508
  • 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.
• Sequence:

  MTFPEADILLKSGECAGQTMLDTMEAPGHSRQLLLQLNNQRTKGFLCDVIIVVQNALFRAHKNVLAASSAYLKSL
  VVHDNLLNLDHDMVSPAVFRLVLDFIYTGRLADGAEAAAAAAVAPGAEPSLGAVLAAASYLQIPDLVALCKKRLK
  RHGKYCHLRGGGGGGGGYAPYGRPGRGLRAATPVIQACYPSPVGPPPPPAAEPPSGPEAAVNTHCAELYASGPGP
  AAALCASERRCSPLCGLDLSKKSPPGSAAPERPLAERELPPRPDSPPSAGPAAYKEPPLALPSLPPLPFQKLEEA
  APPSDPFRGGSGSPGPEPPGRPDGPSLLYRWMKHEPGLGSYGDELGRERGSPSERCEERGGDAAVSPGGPPLGLA
  PPPRYPGSLDGPGAGGDGDDYKSSSEETGSSEDPSPPGGHLEGYPCPHLAYGEPESFGDNLYVCIPCGKGFPSSE
  QLNAHVEAHVEEEEALYGRAEAAEVAAGAAGLGPPFGGGGDKVAGAPGGLGELLRPYRCASCDKSYKDPATLRQH
  EKTHWLTRPYPCTICGKKFTQRGTMTRHMRSHLGLKPFACDACGMRFTRQYRLTEHMRIHSGEKPYECQVCGGKF
  AQQRNLISHMKMHAVGGAAGAAGALAGLGGLPGVPGPDGKGKLDFPEGVFAVARLTAEQLSLKQQDKAAAAELLA
  QTTHFLHDPKVALESLYPLAKFTAELGLSPDKAAEVLSQGAHLAAGPDGRTIDRFSPT

• Structural information:
  • Protein Domains: (47..11-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR028424  IPR011333  IPR036236  IPR013087  
  • Prosite: PS50097 PS00028 PS50157
  • STRING: ENSP00000314080
• Other Databases: GeneCards:  HIC1  Malacards:  HIC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0042826	histone deacetylase binding	IDA	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS	biological process
GO:0000785	chromatin	ISS	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq