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This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016] See more...
Aliases for EPN1 Gene
Aliases for EPN1 Gene
External Ids for EPN1 Gene
- HGNC: 21604
- NCBI Entrez Gene: 29924
- Ensembl: ENSG00000063245
- OMIM®: 607262
- UniProtKB/Swiss-Prot: Q9Y6I3
Previous GeneCards Identifiers for EPN1 Gene
- GC19P057065
- GC19P056640
- GC19P060862
- GC19P060878
- GC19P056186
- GC19P052497
- GC19P055677
- GC19P055814
Summaries for EPN1 Gene
-
This gene encodes a member of the epsin protein family. The encoded protein binds clathrin and is involved in the endocytosis of clathrin-coated vesicles. Loss of function of this gene is associated with reduced tumor growth and progression in certain cancer types. [provided by RefSeq, Mar 2016]
GeneCards Summary for EPN1 Gene
EPN1 (Epsin 1) is a Protein Coding gene. Diseases associated with EPN1 include Erythrocytosis, Familial, 1 and Hypercholesterolemia, Familial, 4. Among its related pathways are Endocytic Trafficking of EGFR and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include transcription factor binding and phospholipid binding. An important paralog of this gene is EPN2.
UniProtKB/Swiss-Prot Summary for EPN1 Gene
-
Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis.
Additional gene information for EPN1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPN1 Gene
Genomics for EPN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPN1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPN1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPN1
- Top Transcription factor binding sites by QIAGEN in the EPN1 gene promoter:
-
- AP-1
- ATF-2
- c-Ets-1
- c-Jun
- c-Myc
- NF-kappaB1
Genomic Locations for EPN1 Gene
Latest Assembly
- chr19:55,675,226-55,709,858
- (GRCh38/hg38)
- Size:
- 34,633 bases
- Orientation:
- Plus strand
Previous Assembly
- chr19:56,186,592-56,220,899
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 34,308 bases
- Orientation:
- Plus strand
Genomic View for EPN1 Gene
Genes around EPN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.42 by HGNC
- 19q13.42 by Entrez Gene
- 19q13.42 by Ensembl
EPN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPN1 Gene
Proteins for EPN1 Gene
-
Protein details for EPN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y6I3-EPN1_HUMAN
- Recommended name:
- Epsin-1
- Protein Accession:
- Q9Y6I3
- Q86ST3
- Q9HA18
Protein attributes for EPN1 Gene
- Size:
- 576 amino acids
- Molecular mass:
- 60293 Da
- Quaternary structure:
-
- Monomer. Binds clathrin, ZBTB16/ZNF145 and ITSN1 (By similarity). Binds ubiquitinated proteins (By similarity). Binds REPS2, EPS15, AP2A1 and AP2A2. Interacts with RALBP1 in a complex also containing NUMB and TFAP2A during interphase and mitosis. Interacts with AP2B1. Interacts with UBQLN2.
- Miscellaneous:
-
- [Isoform 3]: May be due to a competing donor splice site.
Protein Expression for EPN1 Gene
Post-translational modifications for EPN1 Gene
- Phosphorylated on serine and/or threonine residues in mitotic cells. Phosphorylation reduces interaction with REPS2, AP-2 and the membrane fraction. Depolarization of synaptosomes results in dephosphorylation.
- Ubiquitinated.
-
Ubiquitination at Lys11, Lys86, Lys97, Lys107, Lys117, Lys128, and Lys469
- NX_Q9Y6I3 (NX_Q9Y6I3-2)
- Modification sites at PhosphoSitePlus
Other Protein References for EPN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ EPN1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for EPN1
- Novus Biologicals Antibodies for EPN1
-
Abcam antibodies for EPN1
- Invitrogen Antibodies for EPN1 (AFLGC-EPN1)
-
Boster Bio Antibodies for EPN1
-
Custom Antibody ServicesProSci Antibodies for EPN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EPN1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for EPN1
- Origene Custom Protein Services for EPN1
-
Abcam proteins for EPN1
Assay products for research
- antibodies-online: Search results for available EPN1 related products ranked by validation data
No data available for DME Specific Peptides for EPN1 Gene
Domains & Families for EPN1 Gene
Gene Families for EPN1 Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for EPN1 Gene
Suggested Antigen Peptide Sequences for EPN1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55368, highly similar to Epsin-1 (B4DU91_HUMAN)
- EPS-15-interacting protein 1 (EPN1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y6I3UniProtKB/Swiss-Prot:
EPN1_HUMAN :- The NPF repeat domain is involved in EPS15 binding.
- Belongs to the epsin family.
- Domain:
-
- The NPF repeat domain is involved in EPS15 binding.
- The DPW repeat domain is involved in AP2A2 and clathrin binding.
- The [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif mediates interaction with the AP-2 complex subunit AP2B1.
- Family:
-
- Belongs to the epsin family.
Function for EPN1 Gene
Molecular function for EPN1 Gene
- UniProtKB/Swiss-Prot Function:
- Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis.
Phenotypes From GWAS Catalog for EPN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 18199683 |
| GO:0005543 | phospholipid binding | IBA | 21873635 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0030276 | clathrin binding | IBA | 21873635 |
Phenotypes for EPN1 Gene
- MGI mutant phenotypes for EPN1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for EPN1:
Animal Models for EPN1 Gene
- MGI Knock Outs for EPN1:
-
- Epn1 Epn1<tm1Ocr>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPN1 - Starting at $85 >
- * EPN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPN1
miRNA for EPN1 Gene
- miRTarBase miRNAs that target EPN1
-
- mmu-miR-24-3p (MIRT013957)
- hsa-miR-744-5p (MIRT037415)
- hsa-miR-423-5p (MIRT038071)
- hsa-miR-3153 (MIRT082754)
- hsa-miR-6733-5p (MIRT082764)
- hsa-miR-6739-5p (MIRT082766)
- hsa-miR-6819-5p (MIRT484325)
- hsa-miR-6812-5p (MIRT484327)
- hsa-miR-6737-5p (MIRT484328)
- hsa-miR-6742-5p (MIRT484329)
- hsa-miR-92a-2-5p (MIRT484330)
- hsa-miR-6766-5p (MIRT484331)
- hsa-miR-6756-5p (MIRT484332)
- hsa-miR-6747-5p (MIRT484333)
- hsa-miR-608 (MIRT484334)
- hsa-miR-4651 (MIRT484335)
- hsa-miR-4664-5p (MIRT484336)
- hsa-miR-342-5p (MIRT484337)
- hsa-miR-6799-5p (MIRT484338)
- hsa-miR-6825-5p (MIRT484339)
- hsa-miR-4668-5p (MIRT484340)
- hsa-miR-6851-5p (MIRT484341)
- hsa-miR-3689d (MIRT484342)
- hsa-miR-6077 (MIRT484343)
- hsa-miR-6134 (MIRT484344)
- hsa-miR-6845-3p (MIRT484345)
- hsa-miR-6889-5p (MIRT484346)
- hsa-miR-6784-5p (MIRT484347)
- hsa-miR-6777-5p (MIRT484348)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPN1
- Browse OriGene Inhibitory RNA Products For EPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN1
Clone products for research
- Applied Biological Materials (abm): Clones for EPN1 - Starting at $45 >
- * EPN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209035
- MR209035
- MR209035L3
- MR209035L4
- MR230560
- RC207099
- RC207099L1
- RC207099L2
- RC207099L3
- RC207099L4
- RC225973
- RC225973L3
- RC225973L4
- RC226076
- RC226076L3
- RC226076L4
- RG207099
- RG225973
- RG226076
- RR210922
- RR210922L3
- RR210922L4
- MR209035L3V
- MR209035L4V
- RC207099L1V
- RC207099L2V
- RC207099L3V
- RC207099L4V
- RC225973L3V
- RC225973L4V
- RC226076L3V
- RC226076L4V
- RR210922L3V
- RR210922L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPN1
Cell Lines for research
-
Horizon Cell Lines for EPN1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPN1 Gene
Localization for EPN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPN1 Gene
- Cytoplasm. Cell membrane. Peripheral membrane protein. Nucleus. Membrane, clathrin-coated pit. Note=Associated with the cytoplasmic membrane at sites where clathrin-coated pits are forming. Colocalizes with clathrin and AP-2 in a punctate pattern on the plasma membrane. Detected in presynaptic nerve terminals and in Golgi stacks. May shuttle to the nucleus when associated with ZBTB16/ZNF145 (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| nucleus | 4 |
| endosome | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (3)
- Plasma membrane (3)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005768 | endosome | IBA | 21873635 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for EPN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
|
Sertoli-Sertoli Cell Junction Dynamics
.38
|
| 2 | Clathrin-mediated endocytosis | ||
| 3 | Vesicle-mediated transport | ||
| 4 | Delta508-CFTR traffic / ER-to-Golgi in CF |
Transport Clathrin-coated vesicle cycle
.32
|
wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
.31
|
| 5 | Endocytosis | ||
Pathways by source for EPN1 Gene
2 BioSystems pathways for EPN1 Gene
7 Reactome pathways for EPN1 Gene
1 KEGG pathway for EPN1 Gene
2 GeneGo (Thomson Reuters) pathways for EPN1 Gene
- Transport Clathrin-coated vesicle cycle
- wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
2 R&D Systems pathways for EPN1 Gene
4 Qiagen pathways for EPN1 Gene
- Endocytic Trafficking of EGFR
- Epithelial Adherens Junctions
- Germ Cell-Sertoli Cell Junction Dynamics
- Sertoli-Sertoli Cell Junction Dynamics
Interacting Proteins for EPN1 Gene
Selected Interacting proteins:
Q9Y6I3-EPN1_HUMAN
ENSP00000406209
for EPN1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for EPN1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006897 | endocytosis | TAS,IBA | 21873635 |
| GO:0042059 | negative regulation of epidermal growth factor receptor signaling pathway | TAS | -- |
| GO:0061024 | membrane organization | TAS | -- |
| GO:1903671 | negative regulation of sprouting angiogenesis | IGI | 28717225 |
Transcripts for EPN1 Gene
mRNA/cDNA for EPN1 Gene
- 4 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000085079 2355 nts (view in UCSC)
- ENST00000270460 16219 nts (view in UCSC)
- ENST00000411543 2621 nts (view in UCSC)
- ENST00000586194 583 nts (view in UCSC)
- ENST00000587937 537 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for EPN1 - Starting at $85 >
- * EPN1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for EPN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPN1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPN1
- Browse OriGene Inhibitory RNA Products For EPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN1
Clone products for research
- Applied Biological Materials (abm): Clones for EPN1 - Starting at $45 >
- * EPN1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG209035
- MR209035
- MR209035L3
- MR209035L4
- MR230560
- RC207099
- RC207099L1
- RC207099L2
- RC207099L3
- RC207099L4
- RC225973
- RC225973L3
- RC225973L4
- RC226076
- RC226076L3
- RC226076L4
- RG207099
- RG225973
- RG226076
- RR210922
- RR210922L3
- RR210922L4
- MR209035L3V
- MR209035L4V
- RC207099L1V
- RC207099L2V
- RC207099L3V
- RC207099L4V
- RC225973L3V
- RC225973L4V
- RC226076L3V
- RC226076L4V
- RR210922L3V
- RR210922L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for EPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPN1
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP8: |
Relevant External Links for EPN1 Gene
- GeneLoc Exon Structure for
- EPN1
Expression for EPN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Brain (14.9), Frontal cortex (9.9), and Bone marrow stromal cell (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPN1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPN1
SOURCE GeneReport for Unigene cluster for EPN1 Gene:
Hs.279953Evidence on tissue expression from TISSUES for EPN1 Gene
- Nervous system(4.6)
- Liver(4.5)
- Blood(4.3)
- Muscle(2.6)
- Stomach(2.4)
- Kidney(2.3)
- Skin(2.3)
- Heart(2.2)
Primer products for research
-
OriGene qPCR primer pairs for EPN1
-
OriGene qPCR primer pairs and template standards for EPN1
Gene Expression Assays for research
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 EPN1 Gene
Orthologs for EPN1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPN1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPN1 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPN1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epn1 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Epn1 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPN1 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPN1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epn2 29 |
|
||
| Str.711 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | LOC398106 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | epn1 30 |
|
OneToOne | |
| wufd51f09 29 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007396 29 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | lqf 29 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | epn-1 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ENT3 30 |
|
OneToMany | |
| ENT1 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for EPN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- 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 Vase (Ciona intestinalis)
- 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)
Evolution for EPN1 Gene
- ENSEMBL:
- Gene Tree for EPN1 (if available)
- TreeFam:
- Gene Tree for EPN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPN1: view image
- Alliance of Genome Resources:
- Additional Orthologs for EPN1
Paralogs for EPN1 Gene
Variants for EPN1 Gene
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
16.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.79;
47.38% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPN1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPN1 Gene
Disorders for EPN1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| erythrocytosis, familial, 1 |
|
|
| hypercholesterolemia, familial, 4 |
|
|
Search EPN1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EPN1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for EPN1 Gene
Publications for EPN1 Gene
- Solution structure of the epsin N-terminal homology (ENTH) domain of human epsin. (PMID: 12836669) Koshiba S … Yokoyama S (Journal of structural and functional genomics 2002) 3 4 22
- Epsin binds to the EH domain of POB1 and regulates receptor-mediated endocytosis. (PMID: 10557078) Morinaka K … Kikuchi A (Oncogene 1999) 2 3 4
- Epsin 1 is involved in recruitment of ubiquitinated EGF receptors into clathrin-coated pits. (PMID: 19054389) Kazazic M … Madshus IH (Traffic (Copenhagen, Denmark) 2009) 3 22
- Occludin phosphorylation and ubiquitination regulate tight junction trafficking and vascular endothelial growth factor-induced permeability. (PMID: 19478092) Murakami T … Antonetti DA (The Journal of biological chemistry 2009) 3 22
- The ubiquitin-like protein PLIC-2 is a negative regulator of G protein-coupled receptor endocytosis. (PMID: 18199683) N'Diaye EN … Brown EJ (Molecular biology of the cell 2008) 3 4
ExternalLinks
Products for EPN1 Gene
- Custom Antibody ServicesOriGene Antibodies for EPN1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for EPN1
- Origene Custom Protein Services for EPN1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPN1
- Browse OriGene Inhibitory RNA Products For EPN1
- OriGene qPCR primer pairs for EPN1
- OriGene qPCR primer pairs and template standards for EPN1
- OriGene CRISPR knockouts for EPN1
- MG209035
- MR209035
- MR209035L3
- MR209035L4
- MR230560
- RC207099
- RC207099L1
- RC207099L2
- RC207099L3
- RC207099L4
- RC225973
- RC225973L3
- RC225973L4
- RC226076
- RC226076L3
- RC226076L4
- RG207099
- RG225973
- RG226076
- RR210922
- RR210922L3
- RR210922L4
- MR209035L3V
- MR209035L4V
- RC207099L1V
- RC207099L2V
- RC207099L3V
- RC207099L4V
- RC225973L3V
- RC225973L4V
- RC226076L3V
- RC226076L4V
- RR210922L3V
- RR210922L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPN1
- Sino Biological Human cDNA Clone for EPN1
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPN1
- Novus Biologicals proteins and lysates for EPN1
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- Abcam antibodies for EPN1
- Abcam proteins for EPN1
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- Invitrogen Antibodies for EPN1 (AFLGC-EPN1)
- VectorBuilder Custom and pre-made DNA vectors for EPN1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPN1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPN1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPN1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPN1
- antibodies-online: Show 16 available EPN1 Antibodies ranked by validation data
- Compare Top EPN1 Antibodies
- antibodies-online: Search results for available EPN1 related products ranked by validation data
- antibodies-online: Show 8 available EPN1 Proteins ranked by validation data
- Compare Top EPN1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for EPN1
- Search Santa Cruz Biotechnology (SCBT) for EPN1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPN1
- Custom Antibody ServicesProSci Antibodies for EPN1
- Search for EPN1 Proteins at ProSci
- Horizon Cell Lines for EPN1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPN1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPN1
- Boster Bio Antibodies for EPN1
- Browse Boster Bio ELISA Kits
Sources for EPN1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources