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Aliases for PHRF1 Gene

Aliases for PHRF1 Gene

  • PHD And Ring Finger Domains 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 125 3
  • CTD Binding SR Like Protein RA9 2
  • CTD-Binding SR-Like Protein RA9 3
  • Regulatory Subunit 125 2
  • Protein Phosphatase 1 2
  • PPP1R125 3
  • KIAA1542 4
  • RNF221 3

External Ids for PHRF1 Gene

Previous HGNC Symbols for PHRF1 Gene

  • RNF221

Previous GeneCards Identifiers for PHRF1 Gene

  • GC11P000567
  • GC11P000371
  • GC11P000577
  • GC11P000578

Summaries for PHRF1 Gene

GeneCards Summary for PHRF1 Gene

PHRF1 (PHD And Ring Finger Domains 1) is a Protein Coding gene. GO annotations related to this gene include protein domain specific binding and RNA polymerase binding. An important paralog of this gene is SCAF11.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHRF1 Gene

Genomics for PHRF1 Gene

Regulatory Elements for PHRF1 Gene

Promoters for PHRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PHRF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for PHRF1 Gene

Chromosome:
11
Start:
576,220 bp from pter
End:
612,222 bp from pter
Size:
36,003 bases
Orientation:
Plus strand

Genomic View for PHRF1 Gene

Genes around PHRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHRF1 Gene

Proteins for PHRF1 Gene

  • Protein details for PHRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P1Y6-PHRF1_HUMAN
    Recommended name:
    PHD and RING finger domain-containing protein 1
    Protein Accession:
    Q9P1Y6
    Secondary Accessions:
    • A6H8W1
    • B7ZM64
    • B9EGP0
    • C9JS82
    • Q6PJP2
    • Q8IVY2
    • Q8N2Y7
    • Q9BSM2

    Protein attributes for PHRF1 Gene

    Size:
    1649 amino acids
    Molecular mass:
    178666 Da
    Quaternary structure:
    • Interacts with POLR2A (via the C-terminal domain).
    SequenceCaution:
    • Sequence=BAA96066.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PHRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PHRF1 Gene

Proteomics data for PHRF1 Gene at MOPED

Post-translational modifications for PHRF1 Gene

  • Ubiquitination at Lys 1579
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PHRF1 Gene

Domains & Families for PHRF1 Gene

Protein Domains for PHRF1 Gene

Suggested Antigen Peptide Sequences for PHRF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P1Y6

UniProtKB/Swiss-Prot:

PHRF1_HUMAN :
  • Contains 1 PHD-type zinc finger.
Similarity:
  • Contains 1 PHD-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with PHRF1: view

Function for PHRF1 Gene

Gene Ontology (GO) - Molecular Function for PHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070063 RNA polymerase binding ISS --
genes like me logo Genes that share ontologies with PHRF1: view
genes like me logo Genes that share phenotypes with PHRF1: view

Animal Model Products

miRNA for PHRF1 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHRF1 Gene

Localization for PHRF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHRF1 Gene COMPARTMENTS Subcellular localization image for PHRF1 gene
Compartment Confidence
nucleus 4
cytosol 3

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PHRF1 Gene

Pathways & Interactions for PHRF1 Gene

SuperPathways for PHRF1 Gene

No Data Available

Interacting Proteins for PHRF1 Gene

Gene Ontology (GO) - Biological Process for PHRF1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PHRF1 Gene

Drugs & Compounds for PHRF1 Gene

No Compound Related Data Available

Transcripts for PHRF1 Gene

Unigene Clusters for PHRF1 Gene

PHD and ring finger domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHRF1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2: -
SP3: -
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for PHRF1 Gene

GeneLoc Exon Structure for
PHRF1
ECgene alternative splicing isoforms for
PHRF1

Expression for PHRF1 Gene

mRNA expression in normal human tissues for PHRF1 Gene

Protein differential expression in normal tissues from HIPED for PHRF1 Gene

This gene is overexpressed in Breast (15.8), Cervix (10.6), Bone (8.0), and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PHRF1 Gene



SOURCE GeneReport for Unigene cluster for PHRF1 Gene Hs.325838

genes like me logo Genes that share expression patterns with PHRF1: view

Protein tissue co-expression partners for PHRF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PHRF1 Gene

Orthologs for PHRF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PHRF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHRF1 36
  • 98 (a)
OneToOne
PHRF1 35
  • 97.81 (n)
  • 97.26 (a)
cow
(Bos Taurus)
Mammalia PHRF1 36
  • 60 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHRF1 36
  • 66 (a)
OneToOne
PHRF1 35
  • 75.53 (n)
  • 71.16 (a)
mouse
(Mus musculus)
Mammalia Phrf1 16
Phrf1 36
  • 62 (a)
OneToOne
Phrf1 35
  • 72.89 (n)
  • 69.61 (a)
oppossum
(Monodelphis domestica)
Mammalia PHRF1 36
  • 49 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phrf1 35
  • 72.73 (n)
  • 68.35 (a)
chicken
(Gallus gallus)
Aves PHRF1 35
  • 61.36 (n)
  • 58.24 (a)
PHRF1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PHRF1 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3343 35
zebrafish
(Danio rerio)
Actinopterygii phrf1 36
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2926 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for PHRF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHRF1 Gene

ENSEMBL:
Gene Tree for PHRF1 (if available)
TreeFam:
Gene Tree for PHRF1 (if available)

Paralogs for PHRF1 Gene

Paralogs for PHRF1 Gene

(3) SIMAP similar genes for PHRF1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PHRF1: view

Variants for PHRF1 Gene

Sequence variations from dbSNP and Humsavar for PHRF1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7116027 - 609,148(-) CCACC(G/T)CCGGC reference, missense
rs7123948 - 609,577(-) CACTC(A/G)CAGAG reference, missense
rs11246212 - 610,277(+) GCAGG(C/T)GTTCT reference, missense
rs702965 -- 611,868(-) GCCCC(A/G)ATTCC utr-variant-3-prime
rs936469 -- 606,749(-) CTGCT(C/T)AAGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PHRF1 Gene

Variant ID Type Subtype PubMed ID
dgv911n71 CNV Gain 21882294
dgv916n71 CNV Loss 21882294
nsv527327 CNV Loss 19592680
dgv182e199 CNV Deletion 23128226
dgv920n71 CNV Loss 21882294
dgv921n71 CNV Loss 21882294
dgv922n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
dgv931n71 CNV Loss 21882294
nsv896532 CNV Gain 21882294
essv23843 CNV CNV 17122850
dgv933n71 CNV Loss 21882294
nsv467634 CNV Loss 19166990
nsv896544 CNV Loss 21882294
nsv896545 CNV Loss 21882294
dgv934n71 CNV Loss 21882294
dgv935n71 CNV Loss 21882294
nsv469924 CNV Gain 18288195
dgv936n71 CNV Loss 21882294
dgv939n71 CNV Loss 21882294
nsv467635 CNV Loss 19166990
nsv528415 CNV Loss 19592680
nsv518824 CNV Loss 19592680
nsv896560 CNV Loss 21882294
esv2743845 CNV Deletion 23290073
nsv7633 CNV Insertion 18451855
esv2743846 CNV Deletion 23290073
esv24854 CNV Loss 19812545
dgv141e201 CNV Deletion 23290073
dgv142e201 CNV Deletion 23290073
esv1008801 CNV Insertion 20482838
esv1760409 CNV Insertion 17803354
nsv825679 CNV Loss 20364138
dgv940n71 CNV Loss 21882294
esv1387942 CNV Insertion 17803354
nsv825680 CNV Gain 20364138
esv2663829 CNV Deletion 23128226
nsv825681 CNV Gain 20364138
dgv941n71 CNV Loss 21882294
nsv896569 CNV Loss 21882294

Variation tolerance for PHRF1 Gene

Residual Variation Intolerance Score: 7.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHRF1 Gene

HapMap Linkage Disequilibrium report
PHRF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHRF1 Gene

Disorders for PHRF1 Gene

Relevant External Links for PHRF1

Genetic Association Database (GAD)
PHRF1
Human Genome Epidemiology (HuGE) Navigator
PHRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHRF1

No disorders were found for PHRF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PHRF1 Gene

Publications for PHRF1 Gene

  1. Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. (PMID: 21408207) Chung S.A. … Criswell L.A. (PLoS Genet. 2011) 3 48 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. PHRF1 promotes genome integrity by modulating non-homologous end-joining. (PMID: 25855964) Chang C.F. … Chang M.S. (Cell Death Dis 2015) 3
  4. A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. (PMID: 23740937) Martin J.E. … Martin J. (Hum. Mol. Genet. 2013) 3
  5. Identification of PHRF1 as a tumor suppressor that promotes the TGF-I^ cytostatic program through selective release of TGIF-driven PML inactivation. (PMID: 23911286) Ettahar A. … Atfi A. (Cell Rep 2013) 3

Products for PHRF1 Gene

Sources for PHRF1 Gene

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