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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-045724
Ensembl Protein ID ENSP00000350676.5
UniProt Accession Q9UPP1; B3KMV4; B7Z911; Q5H9U5; Q5JPR9; Q5JPS0; Q5JPS2; Q5JPS3; Q5VUJ4; Q7Z6D4; Q9HAH2; PHF8_HUMAN
Genbank Protein ID BAA83063.1; CAI45929.1; BAB13877.1; BAG51116.1; BAH14147.1; AAH53861.1
Protein Name Histone lysine demethylase PHF8; PHD finger protein 8
Genbank Nucleotide ID AB029034; CR933612; AK021696; AK022788; AK304272; AL589872
Gene Name PHF8; KIAA1111; ZNF422
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000172943.19 ENST00000357988.9 ENSP00000350676.5
ENSG00000172943.19 ENST00000396282.6 ENSP00000379578.2
ENSG00000172943.19 ENST00000443302.5 ENSP00000397129.1
ENSG00000172943.19 ENST00000322659.12 ENSP00000319473.8
ENSG00000172943.19 ENST00000413386.5 ENSP00000388796.1
ENSG00000172943.19 ENST00000448003.1 ENSP00000414028.1
ENSG00000172943.19 ENST00000338946.10 ENSP00000340051.6
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
RepTarmiRNAMapSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Variation
ClinVarGWASdbGWAS CentralOMIM
Drug and target
TTDGRAC
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRID
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 activity/RING/PHD 1.40e-08 36.4 42 90
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD
   S: 2    kvClvCgeggedekslveCekCrewfHpaClklsveeelpnsekwiCpkCr 52
           ++C +C+ +++ ++ ++eC+ C++wfH  C++ + ee+  + + + Cp+C+
   Q: 42   VYC-LCRLPYDVTRFMIECDMCQDWFHGSCVGVE-EEKAADIDLYHCPNCE 90
           69*.******************************.*******99******6 PP
   
Organism Homo sapiens
Functional Description
(View)

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. Only has activity toward H4K20Me1 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.
 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. Only has activity toward H4K20Me1 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.
Protein Sequence
(Fasta)
MNRSRAIVQR GRVLPPPAPL DTTNLAGRRT LQGRAKMASV PVYCLCRLPY DVTRFMIECD 60
MCQDWFHGSC VGVEEEKAAD IDLYHCPNCE VLHGPSIMKK RRGSSKGHDT HKGKPVKTGS 120
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Protein Fasta Sequence


>IUUC-Hsa-045724|E3,PHD|Homo sapiens
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Nucleotide Sequence
(Fasta)
ATATATGTAG AGAAATGAAT TGGAAAAGAT CCTGCTGAGG TTCCCTCTAG AGAGGTAAGC 60
AGGCATTGAA ATGCCCTGTC ACGGGGAAAG TTCAGCCTGG CTGTTTGAAT GTTTATAATG 120
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Nucleotide Fasta Sequence


>IUUC-Hsa-045724|E3,PHD|Homo sapiens
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Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0010--Activator
KW-0025--Alternative splicing
KW-0131--Cell cycle
KW-0156--Chromatin regulator
KW-0181--Complete proteome
KW-0223--Dioxygenase
KW-0225--Disease mutation
KW-0408--Iron
KW-0991--Mental retardation
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
Interpro

IPR003347--JmjC_dom
IPR019786--Zinc_finger_PHD-type_CS
IPR011011--Znf_FYVE_PHD
IPR001965--Znf_PHD
IPR019787--Znf_PHD-finger
IPR013083--Znf_RING/FYVE/PHD
PROSITE

PS51184--JMJC
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2
Pfam

PF02373--JmjC
PF00628--PHD
SMART

SM00558--JmjC
SM00249--PHD
Gene Ontology

GO:0031965--C:nuclear membrane
GO:0005730--C:nucleolus
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0003682--F:chromatin binding
GO:0032452--F:histone demethylase activity
GO:0071558--F:histone demethylase activity (H3-K27 specific)
GO:0051864--F:histone demethylase activity (H3-K36 specific)
GO:0032454--F:histone demethylase activity (H3-K9 specific)
GO:0035575--F:histone demethylase activity (H4-K20 specific)
GO:0005506--F:iron ion binding
GO:0035064--F:methylated histone binding
GO:0016706--F:oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0008270--F:zinc ion binding
GO:0007420--P:brain development
GO:0000082--P:G1/S transition of mitotic cell cycle
GO:0071557--P:histone H3-K27 demethylation
GO:0070544--P:histone H3-K36 demethylation
GO:0033169--P:histone H3-K9 demethylation
GO:0035574--P:histone H4-K20 demethylation
GO:0061188--P:negative regulation of chromatin silencing at rDNA
GO:0045943--P:positive regulation of transcription from RNA polymerase I promoter
GO:0045893--P:positive regulation of transcription, DNA-templated
GO:0006351--P:transcription, DNA-templated
KEGG hsa:23133
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002427 Ailuropoda melanoleuca 96.59 0.00e+00 1555.00
IUUC-Aca-004346 Anolis carolinensis 69.35 0.00e+00 1125.00
IUUC-Acl-008303 Aspergillus clavatus 32.34 7.00e-68 253.00
IUUC-Afl-008579 Aspergillus flavus 28.53 1.00e-28 122.00
IUUC-Afu-008903 Aspergillus fumigatus 32.19 2.00e-67 251.00
IUUC-Ani-009279 Aspergillus nidulans 31.81 2.00e-65 244.00
IUUC-Ang-009645 Aspergillus niger 30.50 3.00e-64 240.00
IUUC-Aor-010233 Aspergillus oryzae 31.54 6.00e-67 249.00
IUUC-Ate-010345 Aspergillus terreus 32.39 2.00e-69 258.00
IUUC-Ame-010945 Astyanax mexicanus 62.42 0.00e+00 1065.00
IUUC-Cfa-021156 Canis familiaris 95.39 0.00e+00 1752.00
IUUC-Cpo-022284 Cavia porcellus 95.55 0.00e+00 1764.00
IUUC-Cre-022934 Chlamydomonas reinhardtii 36.78 8.00e-11 60.10
IUUC-Csa-023515 Chlorocebus sabaeus 99.32 0.00e+00 1824.00
IUUC-Dre-028423 Danio rerio 63.36 0.00e+00 1057.00
IUUC-Dno-029446 Dasypus novemcinctus 96.39 0.00e+00 1206.00
IUUC-Dse-031402 Dothistroma septosporum 35.51 2.00e-65 244.00
IUUC-Ete-032380 Echinops telfairi 94.05 0.00e+00 1144.00
IUUC-Eca-034302 Equus caballus 96.40 0.00e+00 1753.00
IUUC-Fca-035578 Felis catus 96.77 0.00e+00 1786.00
IUUC-Gmo-038789 Gadus morhua 61.60 0.00e+00 1100.00
IUUC-Gac-041666 Gasterosteus aculeatus 80.52 0.00e+00 816.00
IUUC-Ggo-044712 Gorilla gorilla 99.53 0.00e+00 1895.00
IUUC-Kpa-049384 Komagataella pastoris 32.70 5.00e-57 215.00
IUUC-Lch-049793 Latimeria chalumnae 67.28 0.00e+00 1219.00
IUUC-Lma-053190 Leptosphaeria maculans 35.89 1.00e-67 253.00
IUUC-Laf-053656 Loxodonta africana 95.08 0.00e+00 1620.00
IUUC-Mcc-055658 Macaca mulatta 99.32 0.00e+00 1824.00
IUUC-Mtr-057679 Medicago truncatula 41.54 1.00e-11 62.80
IUUC-Mla-058890 Melampsora laricipopulina 48.92 5.00e-75 274.00
IUUC-Mvi-060481 Microbotryum violaceum 38.93 3.00e-78 287.00
IUUC-Mmr-060993 Microcebus murinus 96.40 0.00e+00 1732.00
IUUC-Mdo-062097 Monodelphis domestica 70.25 0.00e+00 1221.00
IUUC-Mmu-063909 Mus musculus 94.53 0.00e+00 1715.00
IUUC-Mpu-066429 Mustela putorius furo 97.07 0.00e+00 1734.00
IUUC-Mlu-067746 Myotis lucifugus 92.81 0.00e+00 1726.00
IUUC-Nfi-068537 Neosartorya fischeri 32.39 4.00e-68 254.00
IUUC-Nle-070143 Nomascus leucogenys 99.22 0.00e+00 1849.00
IUUC-Ont-072257 Oreochromis niloticus 78.64 0.00e+00 819.00
IUUC-Oan-073654 Ornithorhynchus anatinus 84.68 0.00e+00 863.00
IUUC-Ocu-074417 Oryctolagus cuniculus 96.29 0.00e+00 1715.00
IUUC-Ola-087502 Oryzias latipes 61.99 0.00e+00 1022.00
IUUC-Olu-087802 Ostreococcus lucimarinus 42.86 2.00e-15 75.50
IUUC-Oga-088662 Otolemur garnettii 97.61 0.00e+00 1467.00
IUUC-Oar-090332 Ovis aries 96.74 0.00e+00 1710.00
IUUC-Ptr-091646 Pan troglodytes 99.75 0.00e+00 1488.00
IUUC-Pan-092122 Papio anubis 99.22 0.00e+00 1823.00
IUUC-Pma-094621 Petromyzon marinus 67.63 0.00e+00 645.00
IUUC-Pno-094984 Phaeosphaeria nodorum 35.48 2.00e-65 244.00
IUUC-Pfo-096107 Poecilia formosa 81.34 0.00e+00 822.00
IUUC-Pab-097635 Pongo abelii 89.76 0.00e+00 1566.00
IUUC-Pop-099324 Populus trichocarpa 42.00 3.00e-11 62.00
IUUC-Pca-100779 Procavia capensis 91.97 0.00e+00 960.00
IUUC-Pva-102839 Pteropus vampyrus 83.08 0.00e+00 1435.00
IUUC-Ptt-103859 Puccinia triticina 39.95 1.00e-76 281.00
IUUC-Pte-104241 Pyrenophora teres 34.16 3.00e-64 241.00
IUUC-Pyt-104741 Pyrenophora triticirepentis 33.91 2.00e-63 238.00
IUUC-Rno-105933 Rattus norvegicus 94.82 0.00e+00 1730.00
IUUC-Sja-107763 Schizosaccharomyces japonicus 34.88 2.00e-47 184.00
IUUC-Ssc-115645 Sus scrofa 97.46 0.00e+00 1666.00
IUUC-Tru-118403 Takifugu rubripes 77.75 0.00e+00 801.00
IUUC-Tsy-119214 Tarsius syrichta 90.50 0.00e+00 1318.00
IUUC-Tni-119736 Tetraodon nigroviridis 80.48 0.00e+00 801.00
IUUC-Tme-127054 Tuber melanosporum 31.03 7.00e-56 213.00
IUUC-Tbe-128138 Tupaia belangeri 96.54 0.00e+00 1483.00
IUUC-Vpa-130595 Vicugna pacos 92.53 0.00e+00 1089.00
IUUC-Xtr-132307 Xenopus tropicalis 68.02 0.00e+00 1159.00
IUUC-Xma-134323 Xiphophorus maculatus 82.21 0.00e+00 828.00
IUUC-Yli-134626 Yarrowia lipolytica 36.34 6.00e-60 224.00
Created Date 25-Jun-2017

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