Q8TE68 (ES8L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 86.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Epidermal growth factor receptor kinase substrate 8-like protein 1 Short name=EPS8-like protein 1 Alternative name(s): Epidermal growth factor receptor pathway substrate 8-related protein 1 Short name=EPS8-related protein 1 | ||||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||||
| Taxonomic identifier | 9606 [NCBI] | ||||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 723 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Ref.7 |
| Subunit structure | Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin. Ref.7 |
| Subcellular location | |
| Tissue specificity | Detected in placenta. Ref.7 |
| Sequence similarities | Belongs to the EPS8 family. Contains 1 SH3 domain. |
| Sequence caution | The sequence AAG03038.1 differs from that shown. Reason: Frameshift at position 596. The sequence AAG03039.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil SH3 domain |
| Technical term | 3D-structure Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8TE68-1) Also known as: A; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8TE68-2) Also known as: B; The sequence of this isoform differs from the canonical sequence as follows: 1-127: Missing. 128-143: ERAQPDVHFFQGLRLG → MNRTWPRRIWGSSQDE | ||||||
| Isoform 3 (identifier: Q8TE68-3) Also known as: C; The sequence of this isoform differs from the canonical sequence as follows: 1-39: MSTATGPEAAPKPSAKSIYEQRKRYSTVVMADVSQYPVN → MGRKAIVLAIANTSLAFPLCQ 451-451: R → RQVTQATQQGRGWEVRGRGRSAWPRLTRLSYFL 509-696: DDSRKWWKVR...VTVQRSLLED → ED | ||||||
| Isoform 4 (identifier: Q8TE68-4) The sequence of this isoform differs from the canonical sequence as follows: 1-177: Missing. 178-187: QRDRSPAAET → MSPLSPGSPL 191-300: QRRPSVRAVI...GRRSRRRAAG → ARADLTAILTGCPPLSACLVLAPRPHRRARLLPS 451-451: R → RQVTQATQQGRGWEVRGRGRSAWPRLTRLSYFL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||
Molecule processing | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 723 | 723 | Epidermal growth factor receptor kinase substrate 8-like protein 1 | PRO_0000239082 | |||||||||||||||||
Regions | |||||||||||||||||||||
| Domain | 478 – 537 | 60 | SH3 | ||||||||||||||||||
| Coiled coil | 689 – 719 | 31 | Potential | ||||||||||||||||||
| Compositional bias | 119 – 122 | 4 | Poly-Leu | ||||||||||||||||||
| Compositional bias | 448 – 451 | 4 | Poly-Arg | ||||||||||||||||||
| Compositional bias | 534 – 576 | 43 | Pro-rich | ||||||||||||||||||
Natural variations | |||||||||||||||||||||
| Alternative sequence | 1 – 177 | 177 | Missing in isoform 4. | VSP_019082 | |||||||||||||||||
| Alternative sequence | 1 – 127 | 127 | Missing in isoform 2. | VSP_019083 | |||||||||||||||||
| Alternative sequence | 1 – 39 | 39 | MSTAT…QYPVN → MGRKAIVLAIANTSLAFPLC Q in isoform 3. | VSP_019084 | |||||||||||||||||
| Alternative sequence | 128 – 143 | 16 | ERAQP…GLRLG → MNRTWPRRIWGSSQDE in isoform 2. | VSP_019085 | |||||||||||||||||
| Alternative sequence | 178 – 187 | 10 | QRDRSPAAET → MSPLSPGSPL in isoform 4. | VSP_019086 | |||||||||||||||||
| Alternative sequence | 191 – 300 | 110 | QRRPS…RRAAG → ARADLTAILTGCPPLSACLV LAPRPHRRARLLPS in isoform 4. | VSP_019087 | |||||||||||||||||
| Alternative sequence | 451 | 1 | R → RQVTQATQQGRGWEVRGRGR SAWPRLTRLSYFL in isoform 3 and isoform 4. | VSP_019088 | |||||||||||||||||
| Alternative sequence | 509 – 696 | 188 | DDSRK…SLLED → ED in isoform 3. | VSP_019089 | |||||||||||||||||
| Natural variant | 4 | 1 | A → T. Ref.2 Ref.3 Corresponds to variant rs12609976 [ dbSNP | Ensembl ]. | VAR_060375 | |||||||||||||||||
| Natural variant | 288 | 1 | R → G. Corresponds to variant rs1620074 [ dbSNP | Ensembl ]. | VAR_060376 | |||||||||||||||||
| Natural variant | 457 | 1 | Q → E. Ref.2 Ref.3 Corresponds to variant rs1628576 [ dbSNP | Ensembl ]. | VAR_056870 | |||||||||||||||||
| Natural variant | 669 | 1 | K → R. Ref.2 Ref.3 Ref.4 Corresponds to variant rs1054940 [ dbSNP | Ensembl ]. | VAR_060377 | |||||||||||||||||
| Natural variant | 703 | 1 | L → P. Corresponds to variant rs60073068 [ dbSNP | Ensembl ]. | VAR_061647 | |||||||||||||||||
Experimental info | |||||||||||||||||||||
| Sequence conflict | 30 | 1 | M → T in BAC11399. Ref.4 | ||||||||||||||||||
| Sequence conflict | 555 | 1 | P → S in AAL76117. Ref.2 | ||||||||||||||||||
| Sequence conflict | 688 | 1 | T → I in BAA91041. Ref.4 | ||||||||||||||||||
| Sequence conflict | 695 | 1 | E → G in BAC11399. Ref.4 | ||||||||||||||||||
Secondary structure | |||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||
| Beta strand | 482 – 487 | 6 | |||||||||||||||||||
| Beta strand | 493 – 496 | 4 | |||||||||||||||||||
| Beta strand | 504 – 509 | 6 | |||||||||||||||||||
| Beta strand | 511 – 518 | 8 | |||||||||||||||||||
| Beta strand | 525 – 528 | 4 | |||||||||||||||||||
| Helix | 529 – 531 | 3 | |||||||||||||||||||
| Beta strand | 532 – 534 | 3 | |||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and expression analyses of down-regulated cDNA C6-2A in human esophageal cancer." Wu K., Xu Z., Wang M., Xu X., Han Y., Cao Y., Wang R., Sun Y., Wu M. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:325-327(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 4). |
| [2] | "In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure." Tocchetti A., Confalonieri S., Scita G., Di Fiore P.P., Betsholtz C. Genomics 81:234-244(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS THR-4; GLU-457 AND ARG-669. |
| [3] | "Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. Gu J.Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS THR-4; GLU-457 AND ARG-669. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ARG-669. Tissue: Placenta. |
| [5] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3). Tissue: Muscle and Skin. |
| [7] | "The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway." Offenhaeuser N., Borgonovo A., Disanza A., Romano P., Ponzanelli I., Iannolo G., Di Fiore P.P., Scita G. Mol. Biol. Cell 15:91-98(2004) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, IDENTIFICATION IN A COMPLEX WITH ABI1 AND SOS1, INTERACTION WITH ABI1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. |
| [8] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Entry information
| Entry name | ES8L1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8TE68 Secondary accession number(s): Q71RE2 Q9NXH0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
