Mus musculus Protein: Hic1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-199599.6 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | Hic1 | ||||||||||||||||||||||
Protein Name | hypermethylated in cancer 1 | ||||||||||||||||||||||
Synonyms | AA408311; HIC-1; | ||||||||||||||||||||||
Species | Mus musculus | ||||||||||||||||||||||
Ensembl Protein | ENSMUSP00000053483 | ||||||||||||||||||||||
InnateDB Gene | IDBG-199597 (Hic1) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000269PubMed:16269335, ECO:0000269PubMed:18347096}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus {ECO:0000305}. | ||||||||||||||||||||||
Disease Associations | Note=Defects in Hic1 are the cause of perinatal death with serious developmental anomalies, including acrania, exencephaly, cleft palate, omphalocele, craniofacial and limb anomalies. {ECO:0000269PubMed:10655551}. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitously expressed with highest levels in heart and lung. {ECO:0000269PubMed:10655551}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | MGI:1338010 | ||||||||||||||||||||||
InterPro |
IPR000210
BTB/POZ-like IPR007087 Zinc finger, C2H2 IPR011333 BTB/POZ fold IPR013069 BTB/POZ IPR015880 Zinc finger, C2H2-like |
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PFAM |
PF00096
PF00651 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00225
SM00355 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q9R1Y5 | ||||||||||||||||||||||
TrEMBL | Z4YJP0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 15248 | ||||||||||||||||||||||
UniGene | Mm.57250 | ||||||||||||||||||||||
RefSeq | NP_034560 | ||||||||||||||||||||||
MGI ID | |||||||||||||||||||||||
MGI Symbol | Hic1 | ||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS36226 | ||||||||||||||||||||||
HPRD | |||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AJ007511 AL603905 | ||||||||||||||||||||||
GenPept | CAA07549 | ||||||||||||||||||||||