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Aliases for PAGR1 Gene

Aliases for PAGR1 Gene

  • PAXIP1 Associated Glutamate Rich Protein 1 2 3 5
  • Glutamate-Rich Coactivator Interacting With SRC1/NCOA1 2 3
  • Glutamate-Rich Coactivator Interacting With SRC1 3 4
  • Glutamate-Rich Coactivator Associated With SRC1 2 3
  • PAXIP1-Associated Protein 1 3 4
  • PTIP-Associated 1 Protein 2 3
  • PTIP-Associated Protein 1 3 4
  • C16orf53 3 4
  • GAS 3 4
  • PA1 3 4
  • PAXIP1 Associated Glutamate-Rich Protein 1 2
  • PAXIP1-Associated Glutamate-Rich Protein 1 3
  • Chromosome 16 Open Reading Frame 53 2

External Ids for PAGR1 Gene

Previous HGNC Symbols for PAGR1 Gene

  • C16orf53

Previous GeneCards Identifiers for PAGR1 Gene

  • GC16P029845
  • GC16P029849
  • GC16P029856
  • GC16P029853
  • GC16P029866
  • GC16P029882

Summaries for PAGR1 Gene

Entrez Gene Summary for PAGR1 Gene

  • C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]

GeneCards Summary for PAGR1 Gene

PAGR1 (PAXIP1 Associated Glutamate Rich Protein 1) is a Protein Coding gene. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. An important paralog of this gene is ENSG00000281348.

UniProtKB/Swiss-Prot for PAGR1 Gene

  • Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAGR1 Gene

Genomics for PAGR1 Gene

Regulatory Elements for PAGR1 Gene

Enhancers for PAGR1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PAGR1 on UCSC Golden Path with GeneCards custom track

Promoters for PAGR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for PAGR1 Gene

Chromosome:
16
Start:
29,815,952 bp from pter
End:
29,822,495 bp from pter
Size:
6,544 bases
Orientation:
Plus strand

Genomic View for PAGR1 Gene

Genes around PAGR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAGR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAGR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAGR1 Gene

Proteins for PAGR1 Gene

  • Protein details for PAGR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTK6-PAGR1_HUMAN
    Recommended name:
    PAXIP1-associated glutamate-rich protein 1
    Protein Accession:
    Q9BTK6
    Secondary Accessions:
    • A2ICR6

    Protein attributes for PAGR1 Gene

    Size:
    254 amino acids
    Molecular mass:
    27716 Da
    Quaternary structure:
    • Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; PAXIP1 is required for the association with the MLL2/MLL3 complex (PubMed:17500065). Forms a constitutive complex with PAXIP1/PTIP independently of the MLL2/MLL3 complex (By similarity). Interacts with NCOA1, ESR1, NR3C1, AR (PubMed:19039327,PubMed:19124460, PubMed:23161582).

neXtProt entry for PAGR1 Gene

Post-translational modifications for PAGR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAGR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PAGR1 Gene

Domains & Families for PAGR1 Gene

Protein Domains for PAGR1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PAGR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PAGR1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PAGR1 Gene

Function for PAGR1 Gene

Molecular function for PAGR1 Gene

UniProtKB/Swiss-Prot Function:
Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3 complex. Proposed to be recruited by PAXIP1 to sites of DNA damage where the PAGR1:PAXIP1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex (PubMed:19124460). However, its function in DNA damage has been questioned (By similarity). During immunoglobulin class switching in activated B-cells is involved in transcription regulation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus independently of the MLL2/MLL3 complex (By similarity). Involved in both estrogen receptor-regulated gene transcription and estrogen-stimulated G1/S cell-cycle transition (PubMed:19039327). Acts as transcriptional cofactor for nuclear hormone receptors. Inhibits the induction properties of several steroid receptors such as NR3C1, AR and PPARG; the mechanism of inhibition appears to be gene-dependent (PubMed:23161582).

Gene Ontology (GO) - Molecular Function for PAGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17178841
GO:0030331 estrogen receptor binding IDA 19039327
genes like me logo Genes that share ontologies with PAGR1: view
genes like me logo Genes that share phenotypes with PAGR1: view

Animal Model Products

CRISPR Products

miRNA for PAGR1 Gene

miRTarBase miRNAs that target PAGR1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAGR1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAGR1 Gene

Localization for PAGR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAGR1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAGR1 Gene COMPARTMENTS Subcellular localization image for PAGR1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PAGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17500065
GO:0035097 histone methyltransferase complex IDA 17500065
GO:0044666 MLL3/4 complex IDA 17500065
genes like me logo Genes that share ontologies with PAGR1: view

Pathways & Interactions for PAGR1 Gene

genes like me logo Genes that share pathways with PAGR1: view

Gene Ontology (GO) - Biological Process for PAGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway IDA 19039327
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 19039327
genes like me logo Genes that share ontologies with PAGR1: view

No data available for SIGNOR curated interactions for PAGR1 Gene

Drugs & Compounds for PAGR1 Gene

No Compound Related Data Available

Transcripts for PAGR1 Gene

mRNA/cDNA for PAGR1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(667) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PAGR1 Gene

PAXIP1 associated glutamate-rich protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PAGR1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAGR1 Gene

No ASD Table

Relevant External Links for PAGR1 Gene

GeneLoc Exon Structure for
PAGR1
ECgene alternative splicing isoforms for
PAGR1

Expression for PAGR1 Gene

mRNA expression in normal human tissues for PAGR1 Gene

mRNA differential expression in normal tissues according to GTEx for PAGR1 Gene

This gene is overexpressed in Brain - Cerebellum (x5.1) and Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for PAGR1 Gene

This gene is overexpressed in Blymphocyte (25.5), Fetal gut (14.8), Testis (12.0), and CD8 Tcells (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PAGR1 Gene



Protein tissue co-expression partners for PAGR1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAGR1 Gene:

PAGR1

SOURCE GeneReport for Unigene cluster for PAGR1 Gene:

Hs.702841

mRNA Expression by UniProt/SwissProt for PAGR1 Gene:

Q9BTK6-PAGR1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with PAGR1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PAGR1 Gene

Orthologs for PAGR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PAGR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAGR1 34
  • 90.65 (n)
  • 92.09 (a)
dog
(Canis familiaris)
Mammalia PAGR1 34
  • 88.71 (n)
  • 89.76 (a)
mouse
(Mus musculus)
Mammalia Pagr1a 34
  • 85.51 (n)
  • 87.75 (a)
Pagr1a 16
chimpanzee
(Pan troglodytes)
Mammalia PAGR1 34
  • 99.74 (n)
  • 99.61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pagr1 34
  • 65.94 (n)
  • 66.3 (a)
Str.16387 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26428 34
zebrafish
(Danio rerio)
Actinopterygii pagr1 34
  • 57.8 (n)
  • 59.57 (a)
Species where no ortholog for PAGR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PAGR1 Gene

ENSEMBL:
Gene Tree for PAGR1 (if available)
TreeFam:
Gene Tree for PAGR1 (if available)

Paralogs for PAGR1 Gene

Paralogs for PAGR1 Gene

genes like me logo Genes that share paralogs with PAGR1: view

Variants for PAGR1 Gene

Sequence variations from dbSNP and Humsavar for PAGR1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs34508592 -- 29,816,587(-) CCCCT(-/T)CTTCA reference, frameshift-variant
rs34958455 -- 29,817,581(-) GGCAG(-/GAG)AATTG intron-variant
rs11546677 -- 29,816,511(+) GGTCC(C/T)TGCCC utr-variant-5-prime
rs11546679 -- 29,816,655(+) CGGCC(A/G)GTAAG reference, missense
rs35901559 -- 29,818,294(-) CTTTG(A/G)GAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAGR1 Gene

Variant ID Type Subtype PubMed ID
nsv827610 CNV gain 20364138
nsv827611 CNV gain 20364138
nsv833186 CNV loss 17160897

Variation tolerance for PAGR1 Gene

Residual Variation Intolerance Score: 43.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAGR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAGR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAGR1 Gene

Disorders for PAGR1 Gene

Relevant External Links for PAGR1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAGR1

No disorders were found for PAGR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PAGR1 Gene

Publications for PAGR1 Gene

  1. GAS, a new glutamate-rich protein, interacts differentially with SRCs and is involved in oestrogen receptor function. (PMID: 19039327) Liang J. … Shang Y. (EMBO Rep. 2009) 2 3 4 65
  2. PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. (PMID: 17500065) Cho Y.-W. … Ge K. (J. Biol. Chem. 2007) 2 3 4 65
  3. PA1 protein, a new competitive decelerator acting at more than one step to impede glucocorticoid receptor-mediated transactivation. (PMID: 23161582) Zhang Z. … Simons S.S. (J. Biol. Chem. 2013) 3 4 65
  4. Accumulation of Pax2 transactivation domain interaction protein (PTIP) at sites of DNA breaks via RNF8-dependent pathway is required for cell survival after DNA damage. (PMID: 19124460) Gong Z. … Chen J. (J. Biol. Chem. 2009) 3 4 65
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65

Products for PAGR1 Gene

Sources for PAGR1 Gene

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