| Tag | Content |
|---|---|
| Uniprot ID | Q9R1Y5; B1ARH0; Q9R1Y6; Q9R2B0; |
| Entrez ID | 15248 |
| Genbank protein ID | AAD30655.1; AAD30654.1; CAB44493.1; |
| Genbank nucleotide ID | NM_001098203.1 |
| Ensembl protein ID | |
| Ensembl nucleotide ID | |
| Gene name | Hypermethylated in cancer 1 protein |
| Gene symbol | Hic1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 10655551 |
| Functional description | 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. |
| Sequence | MTFPEADILL KSGECAGQTM LDTMEAPGHS RQLLLQLNNQ RTKGFLCDVI IVVQNALFRA 60 HKNVLAASSA YLKSLVVHDN LLNLDHDMVS PAVFRLVLDF IYTGRLTDSV EAAAAAAVAP 120 GAEPSLGAVL AAASYLQIPD LVALCKKRLK RHGKYCHLRG GGSGGGGYAP YGRPGRGLRA 180 ATPVIQACYS SPAGPPPPPA AEPPSGPDAA VNTHCAELYA SGPGPAASLC APERRCSPLC 240 GLDLSKKSPP GSSVPERPLS ERELPPRPDS PPGAGPAVYK EPSLALPPLP PLPFQKLEEA 300 VPTPDPFRGS GGSPGPEPPG RPDGSSLLYR WMKHEPGLGS YGDELVRDRG SPGERLEERG 360 GDPAASPGGP PLGLVPPPRY PGSLDGPGTG ADGDDYKSSS EETGSSEDPS PPGGHLEGYP 420 CPHLAYGEPE SFGDNLYVCI PCGKGFPSSE QLNAHVEAHV EEEEALYGRA EAAEVAAGAA 480 GLGPPFGGGG DKVTGAPGGL GELLRPYRCA SCDKSYKDPA TLRQHEKTHW LTRPYPCTIC 540 GKKFTQRGTM TRHMRSHLGL KPFACDACGM RFTRQYRLTE HMRIHSGEKP YECQVCGGKF 600 AQQRNLISHM KMHAVGGAAG AAGALAGLGG LPGVPGPDGK GKLDFPEGVF AVARLTAEQL 660 SLKQQDKAAA AELLAQTTHF LHDPKVALES LYPLAKFTAE LGLSPDKAAE VLSQGAHLAA 720 GPDSRTIDRF SPT 733 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | ISO |
| GO:0003700 | DNA-binding transcription factor activity | ISS |
| GO:0003700 | DNA-binding transcription factor activity | ISO |
| GO:0005515 | protein binding | IPI |
| GO:0042826 | histone deacetylase binding | ISS |
| GO:0042826 | histone deacetylase binding | ISO |
| GO:0043565 | sequence-specific DNA binding | ISS |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISO |
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA |
| GO:0006974 | cellular response to DNA damage stimulus | IBA |
| GO:0007275 | multicellular organism development | IEA |
| GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | ISO |
| GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | IDA |
| GO:0016055 | Wnt signaling pathway | IEA |
| GO:0030178 | negative regulation of Wnt signaling pathway | ISS |
| GO:0030178 | negative regulation of Wnt signaling pathway | ISO |
| GO:0043517 | positive regulation of DNA damage response, signal transduction by p53 class mediator | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000785 | chromatin | IDA |
| GO:0005634 | nucleus | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-2990846 | SUMOylation | IEA |
| R-MMU-3108232 | SUMO E3 ligases SUMOylate target proteins | IEA |
| R-MMU-3232118 | SUMOylation of transcription factors | IEA |
| R-MMU-392499 | Metabolism of proteins | IEA |
| R-MMU-597592 | Post-translational protein modification | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0007 | Acetylation |
| KW-0025 | Alternative splicing |
| KW-0217 | Developmental protein |
| KW-0238 | DNA-binding |
| KW-1017 | Isopeptide bond |
| KW-0479 | Metal-binding |
| KW-0488 | Methylation |
| KW-0539 | Nucleus |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0677 | Repeat |
| KW-0678 | Repressor |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0832 | Ubl conjugation |
| KW-0879 | Wnt signaling pathway |
| KW-0862 | Zinc |
| KW-0863 | Zinc-finger |