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Q8TE68 (ES8L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:EPS8L1
Synonyms:DRC3, EPS8R1
ORF Names:PP10566
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length723 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasm Ref.7.

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CD3EP077666EBI-7487998,EBI-1211297

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 723723Epidermal growth factor receptor kinase substrate 8-like protein 1
PRO_0000239082

Regions

Domain478 – 53760SH3
Coiled coil689 – 71931 Potential
Compositional bias119 – 1224Poly-Leu
Compositional bias448 – 4514Poly-Arg
Compositional bias534 – 57643Pro-rich

Natural variations

Alternative sequence1 – 177177Missing in isoform 4.
VSP_019082
Alternative sequence1 – 127127Missing in isoform 2.
VSP_019083
Alternative sequence1 – 3939MSTAT…QYPVN → MGRKAIVLAIANTSLAFPLC Q in isoform 3.
VSP_019084
Alternative sequence128 – 14316ERAQP…GLRLG → MNRTWPRRIWGSSQDE in isoform 2.
VSP_019085
Alternative sequence178 – 18710QRDRSPAAET → MSPLSPGSPL in isoform 4.
VSP_019086
Alternative sequence191 – 300110QRRPS…RRAAG → ARADLTAILTGCPPLSACLV LAPRPHRRARLLPS in isoform 4.
VSP_019087
Alternative sequence4511R → RQVTQATQQGRGWEVRGRGR SAWPRLTRLSYFL in isoform 3 and isoform 4.
VSP_019088
Alternative sequence509 – 696188DDSRK…SLLED → ED in isoform 3.
VSP_019089
Natural variant41A → T. Ref.2 Ref.3
Corresponds to variant rs12609976 [ dbSNP | Ensembl ].
VAR_060375
Natural variant2881R → G.
Corresponds to variant rs1620074 [ dbSNP | Ensembl ].
VAR_060376
Natural variant4571Q → E. Ref.2 Ref.3
Corresponds to variant rs1628576 [ dbSNP | Ensembl ].
VAR_056870
Natural variant6691K → R. Ref.2 Ref.3 Ref.4
Corresponds to variant rs1054940 [ dbSNP | Ensembl ].
VAR_060377
Natural variant7031L → P.
Corresponds to variant rs60073068 [ dbSNP | Ensembl ].
VAR_061647

Experimental info

Sequence conflict301M → T in BAC11399. Ref.4
Sequence conflict5551P → S in AAL76117. Ref.2
Sequence conflict6881T → I in BAA91041. Ref.4
Sequence conflict6951E → G in BAC11399. Ref.4

Secondary structure

............. 723
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: E55F71B6E128151E

FASTA72380,251
        10         20         30         40         50         60 
MSTATGPEAA PKPSAKSIYE QRKRYSTVVM ADVSQYPVNH LVTFCLGEDD GVHTVEDASR 

        70         80         90        100        110        120 
KLAVMDSQGR VWAQEMLLRV SPDHVTLLDP ASKEELESYP LGAIVRCDAV MPPGRSRSLL 

       130        140        150        160        170        180 
LLVCQEPERA QPDVHFFQGL RLGAELIRED IQGALHNYRS GRGERRAAAL RATQEELQRD 

       190        200        210        220        230        240 
RSPAAETPPL QRRPSVRAVI STVERGAGRG RPQAKPIPEA EEAQRPEPVG TSSNADSASP 

       250        260        270        280        290        300 
DLGPRGPDLA VLQAEREVDI LNHVFDDVES FVSRLQKSAE AARVLEHRER GRRSRRRAAG 

       310        320        330        340        350        360 
EGLLTLRAKP PSEAEYTDVL QKIKYAFSLL ARLRGNIADP SSPELLHFLF GPLQMIVNTS 

       370        380        390        400        410        420 
GGPEFASSVR RPHLTSDAVA LLRDNVTPRE NELWTSLGDS WTRPGLELSP EEGPPYRPEF 

       430        440        450        460        470        480 
FSGWEPPVTD PQSRAWEDPV EKQLQHERRR RQQSAPQVAV NGHRDLEPES EPQLESETAG 

       490        500        510        520        530        540 
KWVLCNYDFQ ARNSSELSVK QRDVLEVLDD SRKWWKVRDP AGQEGYVPYN ILTPYPGPRL 

       550        560        570        580        590        600 
HHSQSPARSL NSTPPPPPAP APAPPPALAR PRWDRPRWDS CDSLNGLDPS EKEKFSQMLI 

       610        620        630        640        650        660 
VNEELQARLA QGRSGPSRAV PGPRAPEPQL SPGSDASEVR AWLQAKGFSS GTVDALGVLT 

       670        680        690        700        710        720 
GAQLFSLQKE ELRAVSPEEG ARVYSQVTVQ RSLLEDKEKV SELEAVMEKQ KKKVEGEVEM 


EVI 

« Hide

Isoform 2 (B) [UniParc].

Checksum: CA417997A8419B8F
Show »

FASTA59666,477
Isoform 3 (C) [UniParc].

Checksum: 39325B1AB8281946
Show »

FASTA55161,682
Isoform 4 [UniParc].

Checksum: 03BA1843CECD229A
Show »

FASTA50255,807

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. expand/collapse author list , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., 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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., 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

Sequence databases

EMBL
GenBank
DDBJ
AF282168 Genomic DNA. Translation: AAG03039.1. Sequence problems.
AF282167 mRNA. Translation: AAG03038.1. Frameshift.
AY074928 mRNA. Translation: AAL76117.1.
AF370395 mRNA. Translation: AAQ15231.1.
AK000265 mRNA. Translation: BAA91041.1.
AK075098 mRNA. Translation: BAC11399.1.
AC005782 Genomic DNA. No translation available.
AC011476 Genomic DNA. No translation available.
BC004907 mRNA. Translation: AAH04907.2.
BC015763 mRNA. Translation: AAH15763.1.
RefSeqNP_060199.3. NM_017729.3.
NP_573441.2. NM_133180.2.
UniGeneHs.438862.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2K2MNMR-A481-536[»]
2ROLNMR-A478-537[»]
ProteinModelPortalQ8TE68.
SMRQ8TE68. Positions 30-159, 478-537, 612-694.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120218. 4 interactions.
IntActQ8TE68. 1 interaction.
MINTMINT-4829629.
STRING9606.ENSP00000201647.

PTM databases

PhosphoSiteQ8TE68.

Proteomic databases

PaxDbQ8TE68.
PRIDEQ8TE68.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000201647; ENSP00000201647; ENSG00000131037. [Q8TE68-1]
ENST00000245618; ENSP00000245618; ENSG00000131037. [Q8TE68-2]
ENST00000570966; ENSP00000460865; ENSG00000262092. [Q8TE68-1]
ENST00000571441; ENSP00000459036; ENSG00000262225. [Q8TE68-2]
ENST00000571474; ENSP00000459625; ENSG00000262287. [Q8TE68-2]
ENST00000572133; ENSP00000459405; ENSG00000263295. [Q8TE68-1]
ENST00000572335; ENSP00000461108; ENSG00000262430. [Q8TE68-1]
ENST00000572411; ENSP00000458499; ENSG00000262430. [Q8TE68-2]
ENST00000572780; ENSP00000461691; ENSG00000263295. [Q8TE68-2]
ENST00000573442; ENSP00000459703; ENSG00000262092. [Q8TE68-2]
ENST00000573454; ENSP00000459674; ENSG00000262467. [Q8TE68-2]
ENST00000574541; ENSP00000458597; ENSG00000262225. [Q8TE68-1]
ENST00000574553; ENSP00000460946; ENSG00000262878. [Q8TE68-2]
ENST00000574658; ENSP00000461137; ENSG00000262878. [Q8TE68-1]
ENST00000575092; ENSP00000460617; ENSG00000262467. [Q8TE68-1]
ENST00000576005; ENSP00000459396; ENSG00000262835. [Q8TE68-2]
ENST00000576261; ENSP00000459340; ENSG00000262287. [Q8TE68-1]
ENST00000577025; ENSP00000459502; ENSG00000262835. [Q8TE68-1]
ENST00000603724; ENSP00000474194; ENSG00000270836. [Q8TE68-2]
ENST00000604610; ENSP00000474112; ENSG00000270836. [Q8TE68-1]
GeneID54869.
KEGGhsa:54869.
UCSCuc002qis.4. human. [Q8TE68-1]
uc002qiu.3. human. [Q8TE68-2]
uc002qiv.3. human. [Q8TE68-4]
uc010ess.1. human. [Q8TE68-3]

Organism-specific databases

CTD54869.
GeneCardsGC19P055583.
HGNCHGNC:21295. EPS8L1.
HPAHPA041851.
HPA043545.
MIM614987. gene.
neXtProtNX_Q8TE68.
PharmGKBPA134990326.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263108.
HOVERGENHBG003090.
InParanoidQ8TE68.
KOK17277.
OMAMLCVNEE.
PhylomeDBQ8TE68.
TreeFamTF313069.

Gene expression databases

ArrayExpressQ8TE68.
BgeeQ8TE68.
CleanExHS_EPS8L1.
GenevestigatorQ8TE68.

Family and domain databases

InterProIPR013625. PTB.
IPR001452. SH3_domain.
[Graphical view]
PfamPF08416. PTB. 1 hit.
PF00018. SH3_1. 1 hit.
[Graphical view]
SMARTSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEPS8L1. human.
EvolutionaryTraceQ8TE68.
GeneWikiEPS8L1.
GenomeRNAi54869.
NextBio57779.
PROQ8TE68.
SOURCESearch...

Entry information

Entry nameES8L1_HUMAN
AccessionPrimary (citable) accession number: Q8TE68
Secondary accession number(s): Q71RE2 expand/collapse secondary AC list , Q8NC10, Q96BB7, Q9BSQ2, Q9GZQ2, Q9NXH0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 92 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM