| Tag | Content |
|---|---|
| Uniprot ID | Q80TJ7; A2ABU8; A2ABV0; A2ABV2; Q8BLX8; Q8BLY0; Q8BZ61; Q8CG26; |
| Entrez ID | 320595 |
| Genbank protein ID | BAC65729.1; BAC30763.1; CAM17159.1; BAC29505.1; CAM17163.1; BAC30755.2; CAM15464.1; CAM17161.1; AAO17385.1; |
| Genbank nucleotide ID | NM_001113354.1; NM_001009544.2; XM_006528875.3; NM_177201.5; XM_006528877.3; XM_006528880.3; |
| Ensembl protein ID | ENSMUSP00000108285; ENSMUSP00000108281; ENSMUSP00000040765; ENSMUSP00000041312; ENSMUSP00000127653; |
| Ensembl nucleotide ID | ENSMUSG00000041229 |
| Gene name | Histone lysine demethylase PHF8 |
| Gene symbol | Phf8 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Histone lysine demethylase with selectivity for the di- and monomethyl states that plays a key role cell cycle progression, rDNA transcription and brain development. Demethylates mono- and dimethylated histone H3 'Lys-9' residue (H3K9Me1 and H3K9Me2), dimethylated H3 'Lys-27' (H3K27Me2) and monomethylated histone H4 'Lys-20' residue (H4K20Me1). Acts as a transcription activator as H3K9Me1, H3K9Me2, H3K27Me2 and H4K20Me1 are epigenetic repressive marks. Involved in cell cycle progression by being required to control G1-S transition. Acts as a coactivator of rDNA transcription, by activating polymerase I (pol I) mediated transcription of rRNA genes. Required for brain development, probably by regulating expression of neuron-specific genes. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate. May also have weak activity toward dimethylated H3 'Lys-36' (H3K36Me2), however, the relevance of this result remains unsure in vivo. Specifically binds trimethylated 'Lys-4' of histone H3 (H3K4me3), affecting histone demethylase specificity: has weak activity toward H3K9Me2 in absence of H3K4me3, while it has high activity toward H3K9me2 when binding H3K4me3. |
| Sequence | MASVPVYCLC RLPYDVTRFM IECDMCQDWF HGSCVGVEEE KAADIDLYHC PNCEVLHGPS 60 IMKKRRGSSK GHDNHKGKPL KTGSSMFIRE LRGRTFDSSD EVILKPTGSQ LTVEFLEENS 120 FSVPILVLKK DGLGMTLPSP SFTVRDVEHY VGSDKEIDVI DVARQADCKM KLGDFVKYYY 180 SGKREKVLNV ISLEFSDTRL SNLVETPRIV RKLSWVENLW PEECVFERPN VQKYCLMSVR 240 DSYTDFHIDF GGTSVWYHVL KGEKIFYLIR PTNANLTLFE CWSSSSNQNE MFFGDQVEKC 300 YKCSVKQGQT LFIPTGWIHA VLTPVDCLAF GGNFLHSLNI EMQLKAYEIE KRLSTADLFK 360 FPNFETICWY VGKHILDIFR GLRENRRHPA SYLVHGGKAL NLAFRAWTKK EALPDHEDEI 420 PETVRTVQLI KDLAREIRLV EDIFQQNVGK TSNIFGLQRI FPAGSIPLTK PAHSTSVSMS 480 KLSLPSKNGS KKKGLKPKDI FKKAERKGKQ SSALGPAGQL SYNLMDPYSH QALKTGPSQK 540 AKFNMSGTSL NDSDDDSADM DLDGSENPLA LLMANGSTKR MKSVSKSRRA KIAKKVDSAR 600 LVAEQVMGDE FDLDSDDELQ IDERLGKEKA NLLIRSKFPR KLPRAKPCSD PNRIREPGEV 660 EFDIEEDYTT DEDMVEGVES KLGNGSGAGG ILDLLKASRQ VGGPDYAALT EAPASPSTQE 720 AIQGMLCMAN LQSSSSSPAT SSLQAWWTGG QERSSGSSSS GLGTVSSSPA SQRTPGKRPI 780 KRPAYWKNES EEEENASLDE QDSLGACFKD AEYIYPSLES DDDDPALKSR PKKKKNSDDA 840 PWSPKARVTP TLPKQDRPVR EGTRVASIET GLAAAAAKLA QQELQKAQKK KYIKKKPLLK 900 EVEQPRPQDS NPIMTMPAPT VATTPQPDTS SSPQPPPEPK QEALSGSLAD HEYTARPNAF 960 GMAQANRSTT PMAPGVFLTQ RRPSVGSQSS QAGQGKRPKK GLATAKQRLG RILKIHRNGK 1020 LLL 1023 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | PHF8 | A0A452DKR2 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | PHF8 | 23133 | Q9UPP1 | CPO,CL/P | Homo sapiens | Publication | More>> | |
| 1:1 ortholog | Phf8 | 320595 | Q80TJ7 | Mus musculus | Prediction | More>> | ||
| 1:1 ortholog | PHF8 | 465652 | A0A2I3SKZ5 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | PHF8 | 100520413 | A0A287B7U8 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | PHF8 | 100344764 | G1SHZ3 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Phf8 | 317425 | D4AD31 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | phf8 | 566534 | P0CH95 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0003682 | chromatin binding | ISS |
| GO:0003682 | chromatin binding | ISO |
| GO:0005506 | iron ion binding | ISS |
| GO:0005506 | iron ion binding | ISO |
| GO:0008270 | zinc ion binding | ISS |
| GO:0008270 | zinc ion binding | ISO |
| GO:0016706 | 2-oxoglutarate-dependent dioxygenase activity | ISS |
| GO:0016706 | 2-oxoglutarate-dependent dioxygenase activity | ISO |
| GO:0032452 | histone demethylase activity | ISS |
| GO:0032452 | histone demethylase activity | ISO |
| GO:0032454 | histone demethylase activity (H3-K9 specific) | ISS |
| GO:0032454 | histone demethylase activity (H3-K9 specific) | ISO |
| GO:0035064 | methylated histone binding | ISS |
| GO:0035064 | methylated histone binding | ISO |
| GO:0035575 | histone demethylase activity (H4-K20 specific) | ISS |
| GO:0035575 | histone demethylase activity (H4-K20 specific) | ISO |
| GO:0051864 | histone demethylase activity (H3-K36 specific) | ISS |
| GO:0051864 | histone demethylase activity (H3-K36 specific) | ISO |
| GO:0071558 | histone demethylase activity (H3-K27 specific) | ISS |
| GO:0071558 | histone demethylase activity (H3-K27 specific) | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | ISS |
| GO:0000082 | G1/S transition of mitotic cell cycle | ISO |
| GO:0007420 | brain development | ISS |
| GO:0033169 | histone H3-K9 demethylation | ISS |
| GO:0033169 | histone H3-K9 demethylation | ISO |
| GO:0035574 | histone H4-K20 demethylation | ISS |
| GO:0035574 | histone H4-K20 demethylation | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISS |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045943 | positive regulation of transcription by RNA polymerase I | ISS |
| GO:0045943 | positive regulation of transcription by RNA polymerase I | ISO |
| GO:0055114 | oxidation-reduction process | IEA |
| GO:0061188 | negative regulation of chromatin silencing at rDNA | ISS |
| GO:0061188 | negative regulation of chromatin silencing at rDNA | ISO |
| GO:0070544 | histone H3-K36 demethylation | ISS |
| GO:0070544 | histone H3-K36 demethylation | ISO |
| GO:0071557 | histone H3-K27 demethylation | ISS |
| GO:0071557 | histone H3-K27 demethylation | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005730 | nucleolus | ISS |
| GO:0005730 | nucleolus | ISO |
| GO:0031965 | nuclear membrane | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|---|---|
| R-MMU-1640170 | Cell Cycle | IEA |
| R-MMU-2299718 | Condensation of Prophase Chromosomes | IEA |
| R-MMU-3214842 | HDMs demethylate histones | IEA |
| R-MMU-3247509 | Chromatin modifying enzymes | IEA |
| R-MMU-4839726 | Chromatin organization | IEA |
| R-MMU-68875 | Mitotic Prophase | IEA |
| R-MMU-68886 | M Phase | IEA |
| R-MMU-69278 | Cell Cycle, Mitotic | IEA |
| Keyword ID | Keyword Term |
|---|---|
| KW-0002 | 3D-structure |
| KW-0010 | Activator |
| KW-0025 | Alternative splicing |
| KW-0131 | Cell cycle |
| KW-0156 | Chromatin regulator |
| KW-0223 | Dioxygenase |
| KW-0408 | Iron |
| KW-0479 | Metal-binding |
| KW-0539 | Nucleus |
| KW-0560 | Oxidoreductase |
| KW-0597 | Phosphoprotein |
| KW-1185 | Reference proteome |
| KW-0804 | Transcription |
| KW-0805 | Transcription regulation |
| KW-0862 | Zinc |
| KW-0863 | Zinc-finger |