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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]
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 E2F transcription factor network and Direct p53 effectors. 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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
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 |
GO:0005515 | protein binding | IPI | 12052894 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | ISS | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Direct p53 effectors | ||
2 | E2F transcription factor network |
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 | IDA | 16269335 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HIC1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HIC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HIC1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC100912068 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hic1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HIC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HIC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HIC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hic1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hic1 30 31 |
|
OneToOne |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
miller-dieker lissencephaly syndrome |
|
|
medulloblastoma |
|
|
bilateral breast cancer |
|
|
adult central nervous system primitive neuroectodermal neoplasm |
|
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