EPS8
entrez
2059
canonical
uniprot
Q12929
canonical
ensembl
ENSG00000151491
resolver
ensp
ENSP00000281172
resolver
ensp
ENSP00000441888
resolver
ensp
ENSP00000442388
resolver
ensp
ENSP00000495824
resolver
ensp
ENSP00000550470
resolver
ensp
ENSP00000550472
resolver
ensp
ENSP00000550473
resolver
ensp
ENSP00000550475
resolver
ensp
ENSP00000629946
resolver
ensp
ENSP00000711003
resolver
ensp
ENSP00000711006
resolver
genesymbol
EPS8
resolver
hgnc
HGNC:3420
resolver
uniprot
A6NMC3
resolver
uniprot
A8K6W2
resolver
uniprot
A8KA66
resolver
uniprot
B4DX66
resolver
uniprot
B4E3T6
resolver
uniprot
Q8N6J0
resolver
uniprot_entry
B4E3T6_HUMAN
resolver
uniprot_entry
EPS8_HUMAN
resolver
uniprot_sec
A6NMC3
resolver
uniprot_sec
A8K6W2
resolver
uniprot_sec
A8KA66
resolver
uniprot_sec
B4DX66
resolver
uniprot_sec
Q8N6J0
resolver
amino_acid_sequence
MNGHISNHPSSFGMYPSQMNGYGSSPTFSQTDREHGSKTSAKALYEQRKNYARDSVSSVSDISQYRVEHLTTFVLDRKDAMITVDDGIRKLKLLDAKGKVWTQDMILQVDDRAVSLIDLESKNELENFPLNTIQHCQAVMHSCSYDSVLALVCKEPTQNKPDLHLFQCDEVKANLISEDIESAISDSKGGKQKRRPDALRMISNADPSIPPPPRAPAPAPPGTVTQVDVRSRVAAWSAWAADQGDFEKPRQYHEQEETPEMMAARIDRDVQILNHILDDIEFFITKLQKAAEAFSELSKRKKNKKGKRKGPGEGVLTLRAKPPPPDEFLDCFQKFKHGFNLLAKLKSHIQNPSAADLVHFLFTPLNMVVQATGGPELASSVLSPLLNKDTIDFLNYTVNGDERQLWMSLGGTWMKARAEWPKEQFIPPYVPRFRNGWEPPMLNFMGATMEQDLYQLAESVANVAEHQRKQEIKRLSTEHSSVSEYHPADGYAFSSNIYTRGSHLDQGEAAVAFKPTSNRHIDRNYEPLKTQPKKYAKSKYDFVARNNSELSVLKDDILEILDDRKQWWKVRNASGDSGFVPNNILDIVRPPESGLGRADPPYTHTIQKQRMEYGPRPADTPPAPSPPPTPAPVPVPLPPSTPAPVPVSKVPANITRQNSSSSDSGGSIVRDSQRHKQLPVDRRKSQMEEVQDELIHRLTIGRSAAQKKFHVPRQNVPVINITYDSTPEDVKTWLQSKGFNPVTVNSLGVLNGAQLFSLNKDELRTVCPEGARVYSQITVQKAALEDSSGSSELQEIMRRRQEKISAAASDSGVESFDEGSSH
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 102 (DFNB102) [MIM:615974]: A form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected. {ECO:0000269|PubMed:24741995}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in EPS8 are associated with some cancers, such as pancreatic, oral squamous cell carcinomas or pituitary cancers. Contributes to cell transformation in response to growth factor treatment and is overexpressed in a number of tumors, indicating that EPS8 levels must be tightly regulated. {ECO:0000269|PubMed:11244499, ECO:0000269|PubMed:18566210, ECO:0000269|PubMed:19008210, ECO:0000269|PubMed:19116338, ECO:0000269|PubMed:19448673}.
uniprot
proteins
function
FUNCTION: Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both barbed-end actin filament capping and actin bundling activities depending on the context. Displays barbed-end actin capping activity when associated with ABI1, thereby regulating actin-based motility process: capping activity is auto-inhibited and inhibition is relieved upon ABI1 interaction. Also shows actin bundling activity when associated with BAIAP2, enhancing BAIAP2-dependent membrane extensions and promoting filopodial protrusions. Involved in the regulation of processes such as axonal filopodia growth, stereocilia length, dendritic cell migration and cancer cell migration and invasion. Acts as a regulator of axonal filopodia formation in neurons: in the absence of neurotrophic factors, negatively regulates axonal filopodia formation via actin-capping activity. In contrast, it is phosphorylated in the presence of BDNF leading to inhibition of its actin-capping activity and stimulation of filopodia formation. Component of a complex with WHRN and MYO15A that localizes at stereocilia tips and is required for elongation of the stereocilia actin core. Indirectly involved in cell cycle progression; its degradation following ubiquitination being required during G2 phase to promote cell shape changes. {ECO:0000269|PubMed:15558031, ECO:0000269|PubMed:17115031}.
uniprot
proteins
mass_dalton
91882
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by the SCF(FBXW5) E3 ubiquitin-protein ligase complex during G2 phase, leading to its transient degradation and subsequent cell shape changes required to allow mitotic progression. Reappears at the midzone of dividing cells (By similarity). {ECO:0000250}.; PTM: Phosphorylation at Ser-625 and Thr-629 by MAPK following BDNF treatment promotes removal from actin and filopodia formation (By similarity). Phosphorylated by several receptor tyrosine kinases. {ECO:0000250}.
uniprot
proteins
protein_family
EPS8 family
uniprot
proteins
pubmed
11244499
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15289329
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15558031
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17115031
uniprot
proteins
pubmed
17537571
uniprot
proteins
pubmed
18566210
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19008210
uniprot
proteins
pubmed
19116338
uniprot
proteins
pubmed
19448673
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24741995
uniprot
proteins
pubmed
26721930
uniprot
proteins
pubmed
7537362
uniprot
proteins
pubmed
8084614
uniprot
proteins
sequence_length
822
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cell cortex {ECO:0000250}. Cell projection, ruffle membrane {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, stereocilium {ECO:0000250, ECO:0000250|UniProtKB:Q08509}. Synapse, synaptosome {ECO:0000250}. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells (By similarity). Localizes to the midzone of dividing cells. {ECO:0000250, ECO:0000250|UniProtKB:Q08509}.
uniprot
proteins