EPS8L3

Protein identityUniProt · HPA

UniProt accession

Q8TE67

Gene

EPS8L3

Ensembl

ENSG00000198758

Chromosome

1

Canonical length

593 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Vesicles

OverviewNCBI Gene

This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

593 residues, UniProt reviewed canonical sequence.

>Q8TE67|EPS8L3
     1  MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
    61  GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
   121  LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQRPRLGGL QPGQDRWRGP AMERPLPMEQ
   181  ARYLEPGIPP EQPHQRTLEH SLPPSPRPLP RHTSAREPSA FTLPPPRRSS SPEDPERDEE
   241  VLNHVLRDIE LFMGKLEKAQ AKTSRKKKFG KKNKDQGGLT QAQYIDCFQK IKHSFNLLGR
   301  LATWLKETSA PELVHILFKS LNFILARCPE AGLAAQVISP LLTPKAINLL QSCLSPPESN
   361  LWMGLGPAWT TSRADWTGDE PLPYQPTFSD DWQLPEPSSQ APLGYQDPVS LRRGSHRLGS
   421  TSHFPQEKTH NHDPQPGDPN SRPSSPKPAQ PALKMQVLYE FEARNPRELT VVQGEKLEVL
   481  DHSKRWWLVK NEAGRSGYIP SNILEPLQPG TPGTQGQSPS RVPMLRLSSR PEEVTDWLQA
   541  ENFSTATVRT LGSLTGSQLL RIRPGELQML CPQEAPRILS RLEAVRRMLG ISP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPS8L3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

134 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPS8L3.

Disease | AllUniProt

Conditions EPS8L3 is implicated in, by any mechanism.

• Hypotrichosis 5 (HYPT5) MIM:612841

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

gnomAD missense Z

0.09

DepMap mean gene effect

-0.19

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• positive regulation of ruffle assembly
• regulation of hair cycle
• regulation of Rho protein signal transduction
• Rho protein signal transduction

Molecular functions

• actin binding
• guanyl-nucleotide exchange factor activity

Cellular components

• cytoplasm
• plasma membrane
• ruffle membrane

Protein domainsUniProt · Pfam · InterPro

• SH3 domain
• PH-like domain superfamily
• Tensin/EPS8 phosphotyrosine-binding domain
• Sterile alpha motif/pointed domain superfamily
• Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain
• Eps8, SH3 domain
• SH3-like domain superfamily
• Epidermal growth factor receptor kinase substrate 8-like
• SAM domain
• EPS8, spectrin-like domain
• SH3 domain
• Phosphotyrosine-binding domain
• SAM domain (Sterile alpha motif)
• EPS8 spectrin-like domain

KeywordsUniProt

• Cytoplasm
• Hypotrichosis
• Phosphoprotein
• SH3 domain

InteractionsUniProt · HPA

Protein binding partners of EPS8L3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABI1
• FASLG