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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 2 3
  • PHD And RING Finger Domain-Containing Protein 1 3
  • CTD Binding SR Like Protein RA9 2
  • CTD-Binding SR-Like Protein RA9 3
  • 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.

Additional gene information for PHRF1 Gene

No data available for Entrez Gene Summary , CIViC 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

Enhancers for PHRF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H000266 2 FANTOM5 Ensembl ENCODE dbSUPER 26.9 -306.2 -306168 6.8 HDGF PKNOX1 FOXA2 ARNT YY1 ZNF766 CBX5 ZNF143 ZNF207 JUNB RIC8A IFITM2 PSMD13 BET1L TMEM80 PHRF1 SNORA52 SIRT3 PGGHG ENSG00000255237
GH11H000311 1.6 FANTOM5 ENCODE dbSUPER 23.8 -261.4 -261352 7 HDGF PKNOX1 ARNT SIN3A ARID4B YY1 ETS1 ZNF766 GLIS2 ZNF207 TMEM80 ENSG00000254910 IFITM3 PGGHG PIDD1 PHRF1 IFITM2 BET1L RIC8A SNORA52
GH11H000924 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19 +350.6 350585 5 ATF1 ARNT ARID4B SIN3A GTF3C2 ZNF766 GLIS2 ELK1 ZNF207 ZNF143 PHRF1 TMEM80 SNORA52 ENSG00000255237 BET1L PSMD13 PIDD1 ENSG00000269915 RIC8A AP2A2
GH11H001060 1.3 Ensembl ENCODE dbSUPER 20.6 +484.9 484860 1.7 JUN MAX BRCA1 ZBTB40 CTBP1 GATA3 RCOR1 FOS CHD2 TCF7L2 PHRF1 TMEM80 RIC8A SNORA52 BET1L ENSG00000255237 PIDD1 PSMD13 LOC105376511 PIR44225
GH11H000807 1.4 ENCODE dbSUPER 18.1 +234.8 234768 6.2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 RPLP2 ENSG00000255108 TMEM80 PIDD1 ENSG00000255158 PHRF1 ENSG00000255142 MOB2 RIC8A BET1L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHRF1 on UCSC Golden Path with GeneCards custom track

Promoters for PHRF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000035655 180 2001 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF143

Genomic Locations for PHRF1 Gene

Genomic Locations for PHRF1 Gene
chr11:576,220-612,222
(GRCh38/hg38)
Size:
36,003 bases
Orientation:
Plus strand
chr11:576,483-612,222
(GRCh37/hg19)

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

Post-translational modifications for PHRF1 Gene

  • Ubiquitination at Lys1579
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PHRF1 Gene

Domains & Families for PHRF1 Gene

Suggested Antigen Peptide Sequences for PHRF1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PHRF1 Gene

Function for PHRF1 Gene

Phenotypes From GWAS Catalog for PHRF1 Gene

Gene Ontology (GO) - Molecular Function for PHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019904 protein domain specific binding IEA --
GO:0046872 metal ion binding IEA --
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

CRISPR Products

miRNA for PHRF1 Gene

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHRF1 gene
Compartment Confidence
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for PHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PHRF1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PHRF1 Gene

Pathways & Interactions for PHRF1 Gene

SuperPathways for PHRF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with PHRF1: view

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PHRF1 Gene



Protein tissue co-expression partners for PHRF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHRF1 Gene:

PHRF1

SOURCE GeneReport for Unigene cluster for PHRF1 Gene:

Hs.325838

Evidence on tissue expression from TISSUES for PHRF1 Gene

  • Liver(4.2)
  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with PHRF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 97.81 (n)
dog
(Canis familiaris)
Mammalia PHRF1 33 34
  • 75.53 (n)
mouse
(Mus musculus)
Mammalia Phrf1 33 16 34
  • 72.89 (n)
rat
(Rattus norvegicus)
Mammalia Phrf1 33
  • 72.73 (n)
cow
(Bos Taurus)
Mammalia PHRF1 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PHRF1 34
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves PHRF1 33 34
  • 61.36 (n)
lizard
(Anolis carolinensis)
Reptilia PHRF1 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3343 33
zebrafish
(Danio rerio)
Actinopterygii phrf1 34
  • 27 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2926 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for PHRF1 was found in the sources mined by GeneCards:
  • 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
rs1000036067 -- 612,527(+) ACCCA(A/G)TTCCC downstream-variant-500B
rs1000077051 -- 592,863(+) CTTTC(C/T)CCAAA intron-variant
rs1000317201 -- 589,326(+) TCTTG(C/G)TCCAT intron-variant
rs1000394613 -- 612,502(+) TGGGC(C/G)TCACC downstream-variant-500B
rs1000422060 -- 579,505(+) GTGGT(C/T)ACTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv951270 CNV deletion 24416366
nsv825681 CNV gain 20364138
nsv825680 CNV gain 20364138
nsv825679 CNV loss 20364138
nsv7633 CNV insertion 18451855
nsv552862 CNV loss 21841781
nsv552861 CNV loss 21841781
nsv552856 CNV gain 21841781
nsv552854 CNV loss 21841781
nsv528415 CNV loss 19592680
nsv527327 CNV loss 19592680
nsv518824 CNV loss 19592680
nsv476357 CNV novel sequence insertion 20440878
nsv469924 CNV gain 18288195
nsv469923 CNV loss 18288195
nsv467635 CNV loss 19166990
nsv467634 CNV loss 19166990
nsv1159791 CNV deletion 26073780
nsv1053964 CNV gain 25217958
nsv1039558 CNV gain 25217958
esv3625071 CNV loss 21293372
esv2762889 CNV loss 21179565
esv2759794 CNV loss 17122850
esv2743846 CNV deletion 23290073
esv2743845 CNV deletion 23290073
esv2663829 CNV deletion 23128226
esv24854 CNV loss 19812545
esv1760409 CNV insertion 17803354
esv1387942 CNV insertion 17803354
esv1008801 CNV insertion 20482838
dgv182e199 CNV deletion 23128226
dgv1524n54 CNV loss 21841781
dgv1523n54 CNV gain 21841781
dgv1522n54 CNV loss 21841781
dgv123e201 CNV deletion 23290073
dgv122e201 CNV deletion 23290073

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 SA … Criswell LA (PLoS genetics 2011) 3 45 60
  2. Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. (PMID: 18204446) International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN) … Kelly JA (Nature genetics 2008) 3 45 60
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 3 4 60

Products for PHRF1 Gene

Sources for PHRF1 Gene

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