Phf8 PHD finger protein 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Phf8provided by MGI
Official Full Name: PHD finger protein 8provided by MGI
Primary source: MGI:MGI:2444341
See related: Ensembl:ENSMUSG00000041229 AllianceGenome:MGI:2444341
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mKIAA1111; 9830141C09Rik
Summary: Predicted to enable several functions, including histone demethylase activity; methylated histone binding activity; and transition metal ion binding activity. Predicted to be involved in several processes, including G1/S transition of mitotic cell cycle; chromatin remodeling; and positive regulation of macromolecule biosynthetic process. Predicted to be located in nuclear membrane; nucleolus; and nucleoplasm. Is expressed in several structures, including brain; early conceptus; olfactory epithelium; ovary; and vibrissa follicle. Used to study syndromic X-linked intellectual disability Siderius type. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Siderius type. Orthologous to human PHF8 (PHD finger protein 8). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in genital fat pad adult (RPKM 7.8), thymus adult (RPKM 4.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F3; X 68.46 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (150303621..150416855)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (151520641..151633859)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Homocysteine metabolites impair the PHF8/H4K20me1/mTOR/autophagy pathway by upregulating the expression of histone demethylase PHF8-targeting microRNAs in human vascular endothelial cells and mice.
Title: Homocysteine metabolites impair the PHF8/H4K20me1/mTOR/autophagy pathway by upregulating the expression of histone demethylase PHF8-targeting microRNAs in human vascular endothelial cells and mice.
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine beta-synthase-deficient mice.
Title: Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine β-synthase-deficient mice.
Loss of PHF8 induces a viral mimicry response by activating endogenous retrotransposons.
Title: Loss of PHF8 induces a viral mimicry response by activating endogenous retrotransposons.
Functional Characterization of a Phf8 Processed Pseudogene in the Mouse Genome.
Title: Functional Characterization of a Phf8 Processed Pseudogene in the Mouse Genome.
The role of PHF8 and TLR4 in osteogenic differentiation of periodontal ligament cells in inflammatory environment.
Title: The role of PHF8 and TLR4 in osteogenic differentiation of periodontal ligament cells in inflammatory environment.
The histone demethylase PHF8 regulates astrocyte differentiation and function.
Title: The histone demethylase PHF8 regulates astrocyte differentiation and function.
Histone demethylase PHF8 drives neuroendocrine prostate cancer progression by epigenetically upregulating FOXA2.
Title: Histone demethylase PHF8 drives neuroendocrine prostate cancer progression by epigenetically upregulating FOXA2.
These results clarify the functional role of Phf8 in mammalian development and behavior.
Title: Phf8 loss confers resistance to depression-like and anxiety-like behaviors in mice.
PHD zinc finger 8 protein (Phf8) knockout mice display normal brain development but impaired learning and memory, and compromised long-term potentiation (LTP) in the hippocampus.
Title: Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway.
knockdown of pmaip1 mimicked the phenotype of ph8(-/Y) by showing the decreased apoptosis during early differentiation of embryonic stem cells and promoted mesodermal and cardiac commitment.
Title: Plant Homeo Domain Finger Protein 8 Regulates Mesodermal and Cardiac Differentiation of Embryonic Stem Cells Through Mediating the Histone Demethylation of pmaip1.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MHAa56c10.seq (e-PCR)
- UniSTS:125230

px-1f9 (e-PCR)
- UniSTS:257386

NoName (e-PCR)
- UniSTS:548493

DXMit197 (e-PCR), detects polymorphism
- UniSTS:132089

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	ISO Inferred from Sequence Orthology more info
enables 2-oxoglutarate-dependent dioxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables FAD-dependent histone H3K9me/H3K9me2 demethylase activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K27me2/H3K27me3 demethylase activity	ISO Inferred from Sequence Orthology more info
enables histone H3K27me2/H3K27me3 demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K36 demethylase activity	ISO Inferred from Sequence Orthology more info
enables histone H3K36 demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K36me/H3K36me2 demethylase activity	IEA Inferred from Electronic Annotation more info
enables histone H3K9 demethylase activity	ISO Inferred from Sequence Orthology more info
enables histone H3K9 demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone H3K9me/H3K9me2 demethylase activity	IEA Inferred from Electronic Annotation more info
enables histone H4K20 demethylase activity	ISO Inferred from Sequence Orthology more info
enables histone H4K20 demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables histone demethylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables histone demethylase activity	ISO Inferred from Sequence Orthology more info
enables histone demethylase activity	ISS Inferred from Sequence or Structural Similarity more info
enables iron ion binding	ISO Inferred from Sequence Orthology more info
enables iron ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables methylated histone binding	ISO Inferred from Sequence Orthology more info
enables methylated histone binding	ISS Inferred from Sequence or Structural Similarity more info
enables transcription coregulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in G1/S transition of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of rDNA heterochromatin formation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of rDNA heterochromatin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase I	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase I	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: histone lysine demethylase PHF8

Names: [histone H3]-dimethyl-L-lysine(36) demethylase PHF8; [histone H3]-dimethyl-L-lysine(9) demethylase PHF8

NP_001106825.1

EC 1.14.11.27

EC 1.14.11.65

NP_796175.1

EC 1.14.11.27

EC 1.14.11.65

XP_006528938.1

EC 1.14.11.27

EC 1.14.11.65

XP_006528940.1

EC 1.14.11.27

EC 1.14.11.65

XP_006528941.1

EC 1.14.11.27

EC 1.14.11.65

XP_006528942.1

EC 1.14.11.27

EC 1.14.11.65

XP_006528943.1

EC 1.14.11.27

EC 1.14.11.65

XP_030107232.1

EC 1.14.11.27

EC 1.14.11.65

XP_030107233.1

EC 1.14.11.27

EC 1.14.11.65

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001113354.1 → NP_001106825.1 histone lysine demethylase PHF8 isoform b

See identical proteins and their annotated locations for NP_001106825.1

Status: VALIDATED

Source sequence(s)

AK040969, AK122447

Consensus CDS

CCDS53223.1

UniProtKB/Swiss-Prot

A2ABU8, A2ABV0, A2ABV2, Q80TJ7, Q8BLX8, Q8BLY0, Q8BZ61, Q8CG26

UniProtKB/TrEMBL

Z4YL84

Related

ENSMUSP00000127653.2, ENSMUST00000168501.8

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
NM_177201.5 → NP_796175.1 histone lysine demethylase PHF8 isoform a

See identical proteins and their annotated locations for NP_796175.1

Status: VALIDATED

Source sequence(s)

AK036609, AK040969, AK122447, AL662922

Consensus CDS

CCDS30470.1

UniProtKB/TrEMBL

A2ABV3, Z4YL84

Related

ENSMUSP00000108281.3, ENSMUST00000112662.9

Conserved Domains (3) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

150303621..150416855

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030251373.2 → XP_030107233.1 histone lysine demethylase PHF8 isoform X2

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_030251372.2 → XP_030107232.1 histone lysine demethylase PHF8 isoform X1

UniProtKB/Swiss-Prot

A2ABU8, A2ABV0, A2ABV2, Q80TJ7, Q8BLX8, Q8BLY0, Q8BZ61, Q8CG26

UniProtKB/TrEMBL

Z4YL84

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_006528879.5 → XP_006528942.1 histone lysine demethylase PHF8 isoform X2

See identical proteins and their annotated locations for XP_006528942.1

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_006528878.5 → XP_006528941.1 histone lysine demethylase PHF8 isoform X2

See identical proteins and their annotated locations for XP_006528941.1

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_006528875.5 → XP_006528938.1 histone lysine demethylase PHF8 isoform X1

See identical proteins and their annotated locations for XP_006528938.1

UniProtKB/Swiss-Prot

A2ABU8, A2ABV0, A2ABV2, Q80TJ7, Q8BLX8, Q8BLY0, Q8BZ61, Q8CG26

UniProtKB/TrEMBL

Z4YL84

Related

ENSMUSP00000040765.7, ENSMUST00000046950.13

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_006528877.5 → XP_006528940.1 histone lysine demethylase PHF8 isoform X1

See identical proteins and their annotated locations for XP_006528940.1

UniProtKB/Swiss-Prot

A2ABU8, A2ABV0, A2ABV2, Q80TJ7, Q8BLX8, Q8BLY0, Q8BZ61, Q8CG26

UniProtKB/TrEMBL

Z4YL84

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins
XM_006528880.5 → XP_006528943.1 histone lysine demethylase PHF8 isoform X1

See identical proteins and their annotated locations for XP_006528943.1

UniProtKB/Swiss-Prot

A2ABU8, A2ABV0, A2ABV2, Q80TJ7, Q8BLX8, Q8BLY0, Q8BZ61, Q8CG26

UniProtKB/TrEMBL

Z4YL84

Conserved Domains (4) summary

smart00558
Location:199 → 262

JmjC; A domain family that is part of the cupin metalloenzyme superfamily

cd15642
Location:6 → 57

PHD_PHF8; PHD finger found in histone lysine demethylase PHF8

pfam17811
Location:338 → 441

JHD; Jumonji helical domain

cl21464
Location:234 → 334

cupin_like; Conserved domain found in cupin and related proteins