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Aliases for CD3EAP Gene

Aliases for CD3EAP Gene

  • CD3e Molecule Associated Protein 2 3 5
  • CD3e Antigen, Epsilon Polypeptide Associated Protein 2 3
  • CD3e Molecule, Epsilon Associated Protein 2 3
  • RNA Polymerase I-Associated Factor PAF49 3 4
  • Antisense To ERCC-1 Protein 3 4
  • ASE-1 3 4
  • PAF49 3 4
  • ASE1 3 4
  • CAST 3 4
  • DNA-Directed RNA Polymerase I Subunit RPA34 3
  • CD3 Epsilon Associated Protein 2
  • CD3-Epsilon-Associated Protein 4
  • CD3E-Associated Protein 4
  • Antisense To ERCC 1 2
  • A34.5 4

External Ids for CD3EAP Gene

Previous GeneCards Identifiers for CD3EAP Gene

  • GC19P050602
  • GC19P045909
  • GC19P042339

Summaries for CD3EAP Gene

GeneCards Summary for CD3EAP Gene

CD3EAP (CD3e Molecule Associated Protein) is a Protein Coding gene. Among its related pathways are RNA Polymerase I Promoter Escape and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include poly(A) RNA binding and DNA-directed 5-3 RNA polymerase activity.

UniProtKB/Swiss-Prot for CD3EAP Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.

  • Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.

Gene Wiki entry for CD3EAP Gene

Additional gene information for CD3EAP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD3EAP Gene

Genomics for CD3EAP Gene

Regulatory Elements for CD3EAP Gene

Enhancers for CD3EAP 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
GH19H045401 1.7 FANTOM5 ENCODE dbSUPER 30.4 -1.6 -1637 6 FEZF1 YY1 ZNF143 SP3 MEF2D GLIS1 RCOR2 NBN NR2C1 KDM1A ZNF180 CCDC61 CLASRP FBXO46 ENSG00000269148 CD3EAP IRF2BP1 ERCC1 RPS16P9 ENSG00000267614
GH19H045442 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.9 +37.8 37752 3 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 FEZF1 DMAP1 SLC30A9 ZNF143 ENSG00000268810 CD3EAP RELB ZNF180 PPP1R13L ERCC1 PPM1N RTN2 CLASRP FOSB
GH19H045418 1.4 Ensembl ENCODE dbSUPER 25.4 +13.6 13592 2 HDGF PKNOX1 TBL1XR1 SIN3A BATF EGR1 SCRT2 ZNF143 ZNF207 ETV6 CD3EAP CBLC PIR48099 MIR6088
GH19H045477 1.7 FANTOM5 ENCODE dbSUPER 19.2 +72.1 72091 2 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766 ZNF207 ZNF180 CCDC61 CLASRP CD3EAP FBXO46 ENSG00000269148 IRF2BP1 PPP1R37 ENSG00000268810 PPM1N
GH19H045427 1.6 FANTOM5 ENCODE dbSUPER 19.9 +22.5 22525 3 HDGF ATF1 ARNT ARID4B SIN3A ZNF121 GTF3C2 ZNF766 GLIS2 ZNF143 ZNF180 CCDC61 CLASRP ENSG00000269148 CD3EAP ENSG00000268810 FBXO46 SYMPK QPCTL ERCC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD3EAP on UCSC Golden Path with GeneCards custom track

Genomic Location for CD3EAP Gene

Chromosome:
19
Start:
45,406,209 bp from pter
End:
45,410,766 bp from pter
Size:
4,558 bases
Orientation:
Plus strand

Genomic View for CD3EAP Gene

Genes around CD3EAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD3EAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD3EAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD3EAP Gene

Proteins for CD3EAP Gene

  • Protein details for CD3EAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15446-RPA34_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA34
    Protein Accession:
    O15446
    Secondary Accessions:
    • Q32N11
    • Q7Z5U2
    • Q9UPF6

    Protein attributes for CD3EAP Gene

    Size:
    510 amino acids
    Molecular mass:
    54986 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with TAF1A thereby associates with the SL1 complex. Interacts with UBTF. Interacts with POLR1E/PRAF1 through its N-terminal region (By similarity). Isoform 2 interacts with CD3E.
    Miscellaneous:
    • It is in an antisense orientation to and overlaps the gene of the DNA repair enzyme ERCC1. This gene overlap is conserved in mouse, suggesting an important biological function.

    Alternative splice isoforms for CD3EAP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD3EAP Gene

Post-translational modifications for CD3EAP Gene

  • Isoform 1 is phosphorylated on tyrosine residues in initiation-competent Pol I-beta complexes but not in Pol I-alpha complexes.
  • Isoform 2 undergoes tyrosine phosphorylation upon T-cell receptor (TCR) stimulation. This phosphorylation has not been confirmed by other groups.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CD3EAP Gene

No data available for DME Specific Peptides for CD3EAP Gene

Domains & Families for CD3EAP Gene

Gene Families for CD3EAP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CD3EAP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CD3EAP Gene

Graphical View of Domain Structure for InterPro Entry

O15446

UniProtKB/Swiss-Prot:

RPA34_HUMAN :
  • Belongs to the eukaryotic RPA34 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPA34 RNA polymerase subunit family.
genes like me logo Genes that share domains with CD3EAP: view

Function for CD3EAP Gene

Molecular function for CD3EAP Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.
UniProtKB/Swiss-Prot Function:
Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.

Phenotypes From GWAS Catalog for CD3EAP Gene

Gene Ontology (GO) - Molecular Function for CD3EAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003899 DNA-directed 5-3 RNA polymerase activity IEA --
genes like me logo Genes that share ontologies with CD3EAP: view

Phenotypes for CD3EAP Gene

genes like me logo Genes that share phenotypes with CD3EAP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CD3EAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CD3EAP Gene

Localization for CD3EAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD3EAP Gene

Nucleus, nucleolus. Chromosome. Note=Found at the fibrillar centers of the nucleolus in interphase and during cell division it is localized to the nucleolus organizer regions of the chromosomes.

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 CD3EAP gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
  • Nucleus (4)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD3EAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000120 RNA polymerase I transcription factor complex TAS 9426281
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with CD3EAP: view

Pathways & Interactions for CD3EAP Gene

genes like me logo Genes that share pathways with CD3EAP: view

Gene Ontology (GO) - Biological Process for CD3EAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 10373416
GO:0009303 rRNA transcription TAS,IEA --
genes like me logo Genes that share ontologies with CD3EAP: view

No data available for SIGNOR curated interactions for CD3EAP Gene

Drugs & Compounds for CD3EAP Gene

(1) Drugs for CD3EAP Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Platinum compounds Pharma 0
genes like me logo Genes that share compounds with CD3EAP: view

Transcripts for CD3EAP Gene

Unigene Clusters for CD3EAP Gene

CD3e molecule, epsilon associated protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CD3EAP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CD3EAP Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for CD3EAP Gene

GeneLoc Exon Structure for
CD3EAP
ECgene alternative splicing isoforms for
CD3EAP

Expression for CD3EAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD3EAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD3EAP Gene

This gene is overexpressed in Liver (35.8) and Lung (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CD3EAP Gene



Protein tissue co-expression partners for CD3EAP Gene

NURSA nuclear receptor signaling pathways regulating expression of CD3EAP Gene:

CD3EAP

SOURCE GeneReport for Unigene cluster for CD3EAP Gene:

Hs.710495

Evidence on tissue expression from TISSUES for CD3EAP Gene

  • Liver(4.2)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with CD3EAP: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD3EAP Gene

Orthologs for CD3EAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD3EAP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD3EAP 33 34
  • 99.22 (n)
cow
(Bos Taurus)
Mammalia CD3EAP 33 34
  • 79.44 (n)
dog
(Canis familiaris)
Mammalia CD3EAP 33 34
  • 75.68 (n)
mouse
(Mus musculus)
Mammalia Cd3eap 33 16 34
  • 71.17 (n)
rat
(Rattus norvegicus)
Mammalia Cd3eap 33
  • 70.59 (n)
oppossum
(Monodelphis domestica)
Mammalia CD3EAP 34
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD3EAP 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cd3eap 34
  • 27 (a)
OneToOne
Species where no ortholog for CD3EAP 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CD3EAP Gene

ENSEMBL:
Gene Tree for CD3EAP (if available)
TreeFam:
Gene Tree for CD3EAP (if available)

Paralogs for CD3EAP Gene

No data available for Paralogs for CD3EAP Gene

Variants for CD3EAP Gene

Sequence variations from dbSNP and Humsavar for CD3EAP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3212989 Pathogenic 45,408,812(-) GACTG(C/T)GTCTT nc-transcript-variant, reference, missense, utr-variant-3-prime
rs3212986 drug-response 45,409,478(-) CTGCT(G/T)CTTCC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1000892061 -- 45,404,731(+) GAGCC(A/C)CCCAG intron-variant, upstream-variant-2KB
rs1001039735 -- 45,406,114(+) TTCCC(G/T)CTCCC intron-variant, upstream-variant-2KB
rs1001385997 -- 45,408,747(+) GAAAG(A/C)AACCT nc-transcript-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CD3EAP Gene

Variant ID Type Subtype PubMed ID
dgv1054e212 CNV gain 25503493
nsv428365 CNV gain+loss 18775914
nsv458711 CNV gain 19166990
nsv579867 CNV gain 21841781
nsv833845 CNV loss 17160897
nsv833846 CNV loss 17160897

Variation tolerance for CD3EAP Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD3EAP Gene

Human Gene Mutation Database (HGMD)
CD3EAP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD3EAP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD3EAP Gene

Disorders for CD3EAP Gene

Relevant External Links for CD3EAP

Genetic Association Database (GAD)
CD3EAP
Human Genome Epidemiology (HuGE) Navigator
CD3EAP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD3EAP

No disorders were found for CD3EAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CD3EAP Gene

Publications for CD3EAP Gene

  1. Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription. (PMID: 15226435) Yamamoto K … Muramatsu M (Molecular and cellular biology 2004) 2 3 22 60
  2. CAST, a novel CD3epsilon-binding protein transducing activation signal for interleukin-2 production in T cells. (PMID: 10373416) Yamazaki T … Saito T (The Journal of biological chemistry 1999) 2 3 4 60
  3. ASE-1: a novel protein of the fibrillar centres of the nucleolus and nucleolus organizer region of mitotic chromosomes. (PMID: 9426281) Whitehead CM … Rattner JB (Chromosoma 1997) 2 3 4 60
  4. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 45 60
  5. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 45 60

Products for CD3EAP Gene

Sources for CD3EAP Gene

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