Human Gene RNASE3 (uc001vyj.3)
  Description: Homo sapiens ribonuclease, RNase A family, 3 (RNASE3), mRNA.
RefSeq Summary (NM_002935): The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014].
Transcript (Including UTRs)
   Position: hg19 chr14:21,359,562-21,360,507 Size: 946 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr14:21,359,846-21,360,328 Size: 483 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:21,359,562-21,360,507)mRNA (may differ from genome)Protein (160 aa)
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neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ECP_HUMAN
DESCRIPTION: RecName: Full=Eosinophil cationic protein; Short=ECP; EC=3.1.27.-; AltName: Full=Ribonuclease 3; Short=RNase 3; Flags: Precursor;
FUNCTION: Cytotoxin and helminthotoxin with low-efficiency ribonuclease activity. Possesses a wide variety of biological activities. Exhibits antibacterial activity, including cytoplasmic membrane depolarization of preferentially Gram-negative, but also Gram-positive strains. Promotes E.coli outer membrane detachment, alteration of the overall cell shape and partial loss of cell content.
SUBUNIT: Interacts with bacterial lipopolysaccharide (LPS) and lipoteichoic acid (LTA). In vitro interacts with and insert into lipid bilayers composed of dioleoyl phosphatidylcholine and dioleoyl phosphatidylglycerol. In vitro, tends to form amyloid- like aggregates at pH 3, but not at pH 5, nor 7.
SUBCELLULAR LOCATION: Secreted. Note=Located in the matrix of eosinophil large specific granule, which are released following activation by an immune stimulus.
SIMILARITY: Belongs to the pancreatic ribonuclease family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): RNASE3
CDC HuGE Published Literature: RNASE3
Positive Disease Associations: asthma
Related Studies:
  1. asthma
    Munthe-Kaas, M. C. et al. 2007, Eosinophil cationic protein (ECP) polymorphisms and association with asthma, s-ECP levels and related phenotypes, Allergy 2007 62(4) 429-36. [PubMed 17362255]
    The present study suggests that the A-G-G haplotype in the RNASE3 gene influences the development of asthma, in particular, an allergic form of asthma. Furthermore, as the -38CA SNP lies in close vicinity of known intron-regulatory sites, results of SNP analysis suggest that the detected association is possibly linked to a genetic transcriptional control of

-  MalaCards Disease Associations
  MalaCards Gene Search: RNASE3
Diseases sorted by gene-association score: allergic rhinitis (41), rhinitis (33), allergic conjunctivitis (33), food allergy (32), keratoconjunctivitis (31), kimura disease (31), urinary schistosomiasis (30), vernal keratoconjunctivitis (28), toxocariasis (27), anisakiasis (26), prurigo nodularis (26), collagenous colitis (25), cough variant asthma (24), pulmonary eosinophilia (24), cold urticaria (23), asthma (23), churg-strauss syndrome (23), bronchiolitis (22), hypereosinophilic syndrome (22), milk allergy (21), eosinophilic cystitis (18), eosinophilic colitis (17), proctitis (17), chronic eosinophilic pneumonia (17), conjunctivitis (17), loeffler endocarditis (17), herpes gestationis (16), allergic asthma (16), onchocerciasis (16), chronic maxillary sinusitis (15), inflammatory bowel disease 4 (15), eosinophilic pneumonia (15), bronchitis (13), eosinophilic gastroenteritis (13), pollen allergy (13), status asthmaticus (13), paragonimiasis (12), cellulitis (12), intrinsic asthma (12), ascariasis (12), allergic hypersensitivity disease (12), chronic conjunctivitis (12), parasitic helminthiasis infectious disease (11), otitis media (11), cow milk allergy (11), nasal cavity disease (11), nose disease (11), chronic interstitial cystitis (11), upper respiratory tract disease (11), schistosomiasis (11), urticaria (11), maxillary sinusitis (10), sinusitis (10), vasomotor rhinitis (10), atopy (9), common cold (9), atopic dermatitis (9), wells syndrome (9), elephantiasis (8), st. louis encephalitis (8), respiratory system disease (8), bullous pemphigoid (7), vernal conjunctivitis (7), bronchial disease (7), conjunctival nevus (7), conjunctival disease (7), atopic keratoconjunctivitis (7), ocular cicatricial pemphigoid (6), latex allergy (6), henoch-schoenlein purpura (6), neuroretinitis (6), autoinflammation, lipodystrophy, and dermatosis syndrome (6), blepharoconjunctivitis (6), bronchopulmonary dysplasia (6), gastroenteritis (6), eosinophilic granuloma (6), vasculogenic impotence (5), corneal dystrophy, posterior amorphous (5), leukocyte disease (5), gastrointestinal allergy (5), pulmonary disease, chronic obstructive (5), ancylostomiasis (4), dermatitis (4), cystic fibrosis (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.65 RPKM in Whole Blood
Total median expression: 27.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.5054-0.250 Picture PostScript Text
3' UTR -34.00179-0.190 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001427 - RNaseA
IPR023411 - RNaseA_AS
IPR023412 - RNaseA_domain

Pfam Domains:
PF00074 - Pancreatic ribonuclease

SCOP Domains:
54076 - RNase A-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DYT - X-ray MuPIT 1H1H - X-ray MuPIT 1QMT - X-ray MuPIT 2KB5 - NMR MuPIT 4A2O - X-ray MuPIT 4A2Y - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P12724
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001530 lipopolysaccharide binding
GO:0003676 nucleic acid binding
GO:0004518 nuclease activity
GO:0004519 endonuclease activity
GO:0004540 ribonuclease activity
GO:0016787 hydrolase activity

Biological Process:
GO:0002227 innate immune response in mucosa
GO:0006401 RNA catabolic process
GO:0019730 antimicrobial humoral response
GO:0019731 antibacterial humoral response
GO:0042742 defense response to bacterium
GO:0043152 induction of bacterial agglutination
GO:0043312 neutrophil degranulation
GO:0045087 innate immune response
GO:0050829 defense response to Gram-negative bacterium
GO:0050830 defense response to Gram-positive bacterium
GO:0090305 nucleic acid phosphodiester bond hydrolysis
GO:0090501 RNA phosphodiester bond hydrolysis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0035578 azurophil granule lumen


-  Descriptions from all associated GenBank mRNAs
  BC143324 - Homo sapiens cDNA clone IMAGE:9051829, containing frame-shift errors.
JD102420 - Sequence 83444 from Patent EP1572962.
X15161 - Human mRNA for eosinophil cationic protein ECP.
M28128 - Homo sapiens eosinophil cationic protein (ECP) mRNA, complete cds.
BC096060 - Homo sapiens ribonuclease, RNase A family, 3 (eosinophil cationic protein), mRNA (cDNA clone MGC:116695 IMAGE:40000109), complete cds.
BC096061 - Homo sapiens ribonuclease, RNase A family, 3 (eosinophil cationic protein), mRNA (cDNA clone MGC:116696 IMAGE:40000110), complete cds.
BC096062 - Homo sapiens ribonuclease, RNase A family, 3 (eosinophil cationic protein), mRNA (cDNA clone MGC:116697 IMAGE:40000111), complete cds.
KJ897472 - Synthetic construct Homo sapiens clone ccsbBroadEn_06866 RNASE3 gene, encodes complete protein.
JD219366 - Sequence 200390 from Patent EP1572962.
JD486703 - Sequence 467727 from Patent EP1572962.
JD054949 - Sequence 35973 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05310 - Asthma

Reactome (by CSHL, EBI, and GO)

Protein P12724 (Reactome details) participates in the following event(s):

R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-6803063 RNASEs bind bacterial LPS, PGN
R-HSA-8948027 RNASEs bind bacterial phospholipids
R-HSA-6798695 Neutrophil degranulation
R-HSA-6803157 Antimicrobial peptides
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ECP, ECP_HUMAN, NM_002935, NP_002926, P12724, Q4VBC1, Q8WTP7, Q8WZ62, Q9GZN9, RNS3
UCSC ID: uc001vyj.3
RefSeq Accession: NM_002935
Protein: P12724 (aka ECP_HUMAN)
CCDS: CCDS9560.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002935.2
exon count: 2CDS single in 3' UTR: no RNA size: 716
ORF size: 483CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1166.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.