EPS15L1

EPS15L1
Identifiers
Aliases	EPS15L1 , EPS15R, epidermal growth factor receptor pathway substrate 15 like 1
External IDs	OMIM: 616826; MGI: 104582; HomoloGene: 31881; GeneCards: EPS15L1; OMA:EPS15L1 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19p13.11 Start 16,355,239 bp [1] End 16,472,085 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8|8 B3.3 Start 73,094,843 bp [2] End 73,175,304 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle apex of heart muscle of thigh right auricle of heart right hemisphere of cerebellum left ventricle sural nerve anterior pituitary right frontal lobe skin of leg Top expressed in genital tubercle tail of embryo zygote ventricular zone neural layer of retina granulocyte Rostral migratory stream lip primary oocyte superior frontal gyrus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding protein binding metal ion binding cadherin binding Cellular component clathrin coat of coated pit plasma membrane clathrin-coated pit membrane nucleus cytosol Biological process negative regulation of epidermal growth factor receptor signaling pathway endocytosis membrane organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 58513 13859 Ensembl ENSG00000127527 ENSMUSG00000006276 UniProt Q9UBC2 Q60902 RefSeq (mRNA) NM_001258374 NM_001258375 NM_001258376 NM_021235 NM_001122832 NM_001289859 NM_007944 RefSeq (protein) NP_001245303 NP_001245304 NP_001245305 NP_067058 NP_001245304.1 NP_001116304 NP_001276788 NP_031970 Location (UCSC) Chr 19: 16.36 – 16.47 Mb Chr 8: 73.09 – 73.18 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Epidermal growth factor receptor substrate 15-like 1 is a protein that in humans is encoded by the EPS15L1 gene. ^[5]

Interactions

EPS15L1 has been shown to interact with HRB. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000127527 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000006276 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: EPS15L1 epidermal growth factor receptor pathway substrate 15-like 1".
6. Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP (Dec 1999). "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport". J. Cell Biol. 147 (7): 1379–84. doi:10.1083/jcb.147.7.1379. PMC   2174238 . PMID   10613896.

• Umair M, Ullah A, Abbas S, Ahmad F, Basit S, Ahmad W (2018). "First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation". Clin Genet. 93 (3): 699–702. doi: 10.1111/cge.13152 . PMID   29023680.

Further reading

• Salcini AE, Confalonieri S, Doria M, Santolini E, Tassi E, Minenkova O, Cesareni G, Pelicci PG, Di Fiore PP (1997). "Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module". Genes Dev. 11 (17): 2239–49. doi:10.1101/gad.11.17.2239. PMC   275390 . PMID   9303539.
• Carbone R, Fré S, Iannolo G, Belleudi F, Mancini P, Pelicci PG, Torrisi MR, Di Fiore PP (1997). "eps15 and eps15R are essential components of the endocytic pathway". Cancer Res. 57 (24): 5498–504. PMID   9407958.
• Coda L, Salcini AE, Confalonieri S, Pelicci G, Sorkina T, Sorkin A, Pelicci PG, Di Fiore PP (1998). "Eps15R is a tyrosine kinase substrate with characteristics of a docking protein possibly involved in coated pits-mediated internalization". J. Biol. Chem. 273 (5): 3003–12. doi: 10.1074/jbc.273.5.3003 . PMID   9446614.
• Chen H, Fre S, Slepnev VI, Capua MR, Takei K, Butler MH, Di Fiore PP, De Camilli P (1998). "Epsin is an EH-domain-binding protein implicated in clathrin-mediated endocytosis". Nature. 394 (6695): 793–7. Bibcode:1998Natur.394..793C. doi:10.1038/29555. PMID   9723620. S2CID   4430975.
• Ueki N, Oda T, Kondo M, Yano K, Noguchi T, Muramatsu M (1998). "Selection system for genes encoding nuclear-targeted proteins". Nat. Biotechnol. 16 (13): 1338–42. doi:10.1038/4315. PMID   9853615. S2CID   20001769.
• Doria M, Salcini AE, Colombo E, Parslow TG, Pelicci PG, Di Fiore PP (1999). "The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport". J. Cell Biol. 147 (7): 1379–84. doi:10.1083/jcb.147.7.1379. PMC   2174238 . PMID   10613896.
• Offenhäuser N, Santolini E, Simeone A, Di Fiore PP (2000). "Differential patterns of expression of Eps15 and Eps15R during mouse embryogenesis". Mech. Dev. 95 (1–2): 309–12. doi: 10.1016/S0925-4773(00)00363-4 . PMID   10906484. S2CID   17472161.
• Martina JA, Bonangelino CJ, Aguilar RC, Bonifacino JS (2001). "Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery". J. Cell Biol. 153 (5): 1111–20. doi:10.1083/jcb.153.5.1111. PMC   2174325 . PMID   11381094.
• Poupon V, Polo S, Vecchi M, Martin G, Dautry-Varsat A, Cerf-Bensussan N, Di Fiore PP, Benmerah A (2002). "Differential nucleocytoplasmic trafficking between the related endocytic proteins Eps15 and Eps15R". J. Biol. Chem. 277 (11): 8941–8. doi: 10.1074/jbc.M108385200 . PMID   11777906.
• Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC (2004). "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry". Anal. Chem. 76 (10): 2763–72. Bibcode:2004AnaCh..76.2763B. doi:10.1021/ac035352d. PMID   15144186.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Schmid EM, Ford MG, Burtey A, Praefcke GJ, Peak-Chew SY, Mills IG, Benmerah A, McMahon HT (2006). "Role of the AP2 beta-appendage hub in recruiting partners for clathrin-coated vesicle assembly". PLOS Biol. 4 (9): e262. doi: 10.1371/journal.pbio.0040262 . PMC   1540706 . PMID   16903783.
• Beausoleil SA, Villén J, Gerber SA, Rush J, Gygi SP (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–92. doi:10.1038/nbt1240. PMID   16964243. S2CID   14294292.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.