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Protein

Epidermal growth factor receptor kinase substrate 8-like protein 1

Gene

EPS8L1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.1 Publication

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • cadherin binding Source: BHF-UCL
  • T cell receptor binding Source: UniProtKB

GO - Biological processi

  • positive regulation of GTPase activity Source: GOC
  • positive regulation of ruffle assembly Source: UniProtKB
  • regulation of Rho protein signal transduction Source: UniProtKB
  • Rho protein signal transduction Source: UniProtKB

Names & Taxonomyi

Protein namesi
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 namesi
Name:EPS8L1
Synonyms:DRC3, EPS8R1
ORF Names:PP10566
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:21295. EPS8L1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: HPA
  • extracellular exosome Source: UniProtKB
  • protein complex Source: UniProtKB
  • ruffle membrane Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000131037.
PharmGKBiPA134990326.

Polymorphism and mutation databases

BioMutaiEPS8L1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002390821 – 723Epidermal growth factor receptor kinase substrate 8-like protein 1Add BLAST723

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei182PhosphoserineCombined sources1
Modified residuei187PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TE68.
MaxQBiQ8TE68.
PaxDbiQ8TE68.
PeptideAtlasiQ8TE68.
PRIDEiQ8TE68.

PTM databases

iPTMnetiQ8TE68.
PhosphoSitePlusiQ8TE68.

Expressioni

Tissue specificityi

Detected in placenta.1 Publication

Gene expression databases

BgeeiENSG00000131037.
CleanExiHS_EPS8L1.
ExpressionAtlasiQ8TE68. baseline and differential.
GenevisibleiQ8TE68. HS.

Organism-specific databases

HPAiHPA041851.
HPA043545.

Interactioni

Subunit structurei

Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • cadherin binding Source: BHF-UCL
  • T cell receptor binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120218. 10 interactors.
IntActiQ8TE68. 4 interactors.
MINTiMINT-4829629.

Structurei

Secondary structure

1723
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi482 – 487Combined sources6
Beta strandi493 – 496Combined sources4
Beta strandi504 – 509Combined sources6
Beta strandi511 – 518Combined sources8
Beta strandi525 – 528Combined sources4
Helixi529 – 531Combined sources3
Beta strandi532 – 534Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2K2MNMR-A481-536[»]
2ROLNMR-A478-537[»]
ProteinModelPortaliQ8TE68.
SMRiQ8TE68.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TE68.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini478 – 537SH3PROSITE-ProRule annotationAdd BLAST60

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili689 – 719Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi119 – 122Poly-Leu4
Compositional biasi448 – 451Poly-Arg4
Compositional biasi534 – 576Pro-richAdd BLAST43

Sequence similaritiesi

Belongs to the EPS8 family.Curated

Keywords - Domaini

Coiled coil, SH3 domain

Phylogenomic databases

eggNOGiENOG410IP0J. Eukaryota.
ENOG4111F7Z. LUCA.
GeneTreeiENSGT00390000003646.
HOVERGENiHBG003090.
InParanoidiQ8TE68.
KOiK17277.
OMAiSQYPVNH.
OrthoDBiEOG091G023T.
PhylomeDBiQ8TE68.
TreeFamiTF313069.

Family and domain databases

CDDicd01210. PTB_EPS8. 1 hit.
cd11764. SH3_Eps8. 1 hit.
Gene3Di2.30.29.30. 1 hit.
InterProiView protein in InterPro
IPR033928. EPS8_PTB.
IPR035462. Eps8_SH3.
IPR011993. PH_dom-like.
IPR013625. PTB.
IPR006020. PTB/PI_dom.
IPR001452. SH3_domain.
PfamiView protein in Pfam
PF08416. PTB. 1 hit.
PF00018. SH3_1. 1 hit.
SMARTiView protein in SMART
SM00462. PTB. 1 hit.
SM00326. SH3. 1 hit.
SUPFAMiSSF50044. SSF50044. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiView protein in PROSITE
PS50002. SH3. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TE68-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MSTATGPEAA PKPSAKSIYE QRKRYSTVVM ADVSQYPVNH LVTFCLGEDD
60 70 80 90 100
GVHTVEDASR KLAVMDSQGR VWAQEMLLRV SPDHVTLLDP ASKEELESYP
110 120 130 140 150
LGAIVRCDAV MPPGRSRSLL LLVCQEPERA QPDVHFFQGL RLGAELIRED
160 170 180 190 200
IQGALHNYRS GRGERRAAAL RATQEELQRD RSPAAETPPL QRRPSVRAVI
210 220 230 240 250
STVERGAGRG RPQAKPIPEA EEAQRPEPVG TSSNADSASP DLGPRGPDLA
260 270 280 290 300
VLQAEREVDI LNHVFDDVES FVSRLQKSAE AARVLEHRER GRRSRRRAAG
310 320 330 340 350
EGLLTLRAKP PSEAEYTDVL QKIKYAFSLL ARLRGNIADP SSPELLHFLF
360 370 380 390 400
GPLQMIVNTS GGPEFASSVR RPHLTSDAVA LLRDNVTPRE NELWTSLGDS
410 420 430 440 450
WTRPGLELSP EEGPPYRPEF FSGWEPPVTD PQSRAWEDPV EKQLQHERRR
460 470 480 490 500
RQQSAPQVAV NGHRDLEPES EPQLESETAG KWVLCNYDFQ ARNSSELSVK
510 520 530 540 550
QRDVLEVLDD SRKWWKVRDP AGQEGYVPYN ILTPYPGPRL HHSQSPARSL
560 570 580 590 600
NSTPPPPPAP APAPPPALAR PRWDRPRWDS CDSLNGLDPS EKEKFSQMLI
610 620 630 640 650
VNEELQARLA QGRSGPSRAV PGPRAPEPQL SPGSDASEVR AWLQAKGFSS
660 670 680 690 700
GTVDALGVLT GAQLFSLQKE ELRAVSPEEG ARVYSQVTVQ RSLLEDKEKV
710 720
SELEAVMEKQ KKKVEGEVEM EVI
Length:723
Mass (Da):80,251
Last modified:May 18, 2010 - v3
Checksum:iE55F71B6E128151E
GO
Isoform 2 (identifier: Q8TE68-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     1-127: Missing.
     128-143: ERAQPDVHFFQGLRLG → MNRTWPRRIWGSSQDE

Show »
Length:596
Mass (Da):66,477
Checksum:iCA417997A8419B8F
GO
Isoform 3 (identifier: Q8TE68-3) [UniParc]FASTAAdd to basket
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

Show »
Length:551
Mass (Da):61,682
Checksum:i39325B1AB8281946
GO
Isoform 4 (identifier: Q8TE68-4) [UniParc]FASTAAdd to basket

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

Show »
Length:502
Mass (Da):55,807
Checksum:i03BA1843CECD229A
GO

Sequence cautioni

The sequence AAG03038 differs from that shown. Reason: Frameshift at position 596.Curated
The sequence AAG03039 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30M → T in BAC11399 (PubMed:14702039).Curated1
Sequence conflicti555P → S in AAL76117 (PubMed:12620401).Curated1
Sequence conflicti688T → I in BAA91041 (PubMed:14702039).Curated1
Sequence conflicti695E → G in BAC11399 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0603754A → T2 PublicationsCorresponds to variant dbSNP:rs12609976Ensembl.1
Natural variantiVAR_060376288R → G. Corresponds to variant dbSNP:rs1620074Ensembl.1
Natural variantiVAR_056870457Q → E2 PublicationsCorresponds to variant dbSNP:rs1628576Ensembl.1
Natural variantiVAR_060377669K → R3 PublicationsCorresponds to variant dbSNP:rs1054940Ensembl.1
Natural variantiVAR_061647703L → P. Corresponds to variant dbSNP:rs60073068Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0190821 – 177Missing in isoform 4. 1 PublicationAdd BLAST177
Alternative sequenceiVSP_0190831 – 127Missing in isoform 2. 2 PublicationsAdd BLAST127
Alternative sequenceiVSP_0190841 – 39MSTAT…QYPVN → MGRKAIVLAIANTSLAFPLC Q in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_019085128 – 143ERAQP…GLRLG → MNRTWPRRIWGSSQDE in isoform 2. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_019086178 – 187QRDRSPAAET → MSPLSPGSPL in isoform 4. 1 Publication10
Alternative sequenceiVSP_019087191 – 300QRRPS…RRAAG → ARADLTAILTGCPPLSACLV LAPRPHRRARLLPS in isoform 4. 1 PublicationAdd BLAST110
Alternative sequenceiVSP_019088451R → RQVTQATQQGRGWEVRGRGR SAWPRLTRLSYFL in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_019089509 – 696DDSRK…SLLED → ED in isoform 3. 1 PublicationAdd BLAST188

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS12914.1. [Q8TE68-1]
CCDS12915.1. [Q8TE68-2]
RefSeqiNP_060199.3. NM_017729.3. [Q8TE68-2]
NP_573441.2. NM_133180.2. [Q8TE68-1]
UniGeneiHs.438862.

Genome annotation databases

EnsembliENST00000201647; ENSP00000201647; ENSG00000131037. [Q8TE68-1]
ENST00000245618; ENSP00000245618; ENSG00000131037. [Q8TE68-2]
GeneIDi54869.
KEGGihsa:54869.
UCSCiuc002qis.5. human. [Q8TE68-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiES8L1_HUMAN
AccessioniPrimary (citable) accession number: Q8TE68
Secondary accession number(s): Q71RE2
, Q8NC10, Q96BB7, Q9BSQ2, Q9GZQ2, Q9NXH0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 18, 2010
Last modified: August 30, 2017
This is version 124 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families