Version: 8.0.0
Date: Tue Jan 28 2025
PHF1
Homo sapiensHGNC:8919
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

PHF1

Species
Homo sapiens
Symbol
PHF1
Name
PHD finger protein 1
Synonyms
  • hPCl1
  • hPHF1
Biotype
protein coding gene
Automated Description
Enables several functions, including histone methyltransferase binding activity; identical protein binding activity; and transcription corepressor binding activity. Involved in DNA repair-dependent chromatin remodeling. Located in several cellular components, including ESC/E(Z) complex; centrosome; and site of double-strand break.
RGD Description
This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12628
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusPhf110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusPhf110 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laevisphf1.S1 of 1YesYes          ☑ 
Xenopus laevisphf1.L1 of 1YesYes          ☑ 
Xenopus tropicalisphf19 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Danio reriophf19 of 10YesYes☑ ☑☑☐☑☑☑☑☑ ☑
Drosophila melanogasterPcl6 of 9YesNo☐ ☑☑☐☑☑☑☐☑  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
MTF2161852407 of 8☑ ☑☐☑☑☑☑☑ 
PHF19256656427 of 8☑ ☑☐☑☑☑☑☑ 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
No data available

Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000006.12:g.33412354C>Tvariant
    SNP
    • missense variant
    NC_000006.12:g.33414992C>Tvariant
    SNP
    • missense variant
    NC_000006.12:g.33415085C>Tvariant
    SNP
    • missense variant
    NC_000006.12:g.33415097G>Avariant
    SNP
    • missense variant
    NC_000006.12:g.33413532T>Cvariant
    SNP
    • missense variant
    NC_000006.12:g.33414793C>Tvariant
    SNP
    • missense variant
    NC_000006.12:g.33415017C>Tvariant
    SNP
    • synonymous variant
    NC_000006.12:g.33412763C>Tvariant
    SNP
    • missense variant
    NC_000006.12:g.33415077C>Tvariant
    SNP
    • synonymous variant
    NC_000006.12:g.33415870G>Avariant
    SNP
    • missense variant
    Showing 1 - 10 of 18 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    170 interactor genes based on 288 annotations
    PHF1 molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		ABI2Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		AEBP2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:24981860
    protein
    		AFF2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:29846670
    RNA
    		APEX1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:28986522
    protein
    		ARID4BHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:24981860
    protein
    		ARID4BHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:29846670
    protein
    		ARID5AHomo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		ARRDC3Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    protein
    		ATXN7L1Homo sapiens
    protein
    • two hybrid
    		PMID:25416956
    protein
    		AVPI1Homo sapiens
    protein
    • two hybrid
    		PMID:32296183
    Showing 1 - 10 of 287 rows
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    Genetic Interactions

    PHF1 role
    PHF1 genetic perturbation
    Interactor gene
    Interactor species
    Interactor role
    Interactor genetic perturbation
    Interaction type
    Phenotype or trait
    Source
    Reference
    unspecified role
    		PTP4A3Homo sapiens
    unspecified role
    positive genetic interaction (sensu BioGRID)
    • viability
    • Growth abnormality
    		PMID:32918875
    Showing 1 - 1 of 1 rows
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