EPS15L1

Protein-coding gene in the species Homo sapiens
EPS15L1
Identifiers
AliasesEPS15L1, EPS15R, epidermal growth factor receptor pathway substrate 15 like 1
External IDsOMIM: 616826; MGI: 104582; HomoloGene: 31881; GeneCards: EPS15L1; OMA:EPS15L1 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for EPS15L1
Genomic location for EPS15L1
Band19p13.11Start16,355,239 bp[1]
End16,472,085 bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for EPS15L1
Genomic location for EPS15L1
Band8|8 B3.3Start73,094,843 bp[2]
End73,175,304 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gastrocnemius muscle

  • apex of heart

  • muscle of thigh

  • right auricle

  • 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
SpeciesHumanMouse
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 MbChr 8: 73.09 – 73.18 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. ^ a b c GRCh38: Ensembl release 89: ENSG00000127527 – Ensembl, May 2017
  2. ^ a b c 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. 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.


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