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Protein

Epidermal growth factor receptor kinase substrate 8

Gene

EPS8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actin binding Source: UniProtKB
  • Rac GTPase binding Source: UniProtKB
  • SH3/SH2 adaptor activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding

Enzyme and pathway databases

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q12929

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Epidermal growth factor receptor kinase substrate 8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EPS8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000151491.12

Human Gene Nomenclature Database

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HGNCi
HGNC:3420 EPS8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600206 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q12929

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cell projection, Cytoplasm, Membrane, Synapse, Synaptosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 102 (DFNB102)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by profound hearing loss affecting all frequencies. Vestibular function is unaffected.
See also OMIM:615974
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.5 Publications

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...
DisGeNETi
2059

MalaCards human disease database

More...
MalaCardsi
EPS8
MIMi615974 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000151491

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA27839

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EPS8

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2833239

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000869941 – 822Epidermal growth factor receptor kinase substrate 8Add BLAST822

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei58PhosphoserineBy similarity1
Modified residuei223PhosphothreonineCombined sources1
Modified residuei317PhosphothreonineBy similarity1
Modified residuei476PhosphoserineCombined sources1
Modified residuei625PhosphoserineCombined sources1
Modified residuei629Phosphothreonine; by MAPKBy similarity1
Modified residuei659PhosphoserineBy similarity1
Modified residuei662PhosphoserineBy similarity1
Modified residuei685PhosphoserineBy similarity1
Modified residuei811PhosphoserineBy similarity1
Modified residuei815PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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).By similarity
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.By similarity

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q12929

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q12929

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q12929

PeptideAtlas

More...
PeptideAtlasi
Q12929

PRoteomics IDEntifications database

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PRIDEi
Q12929

ProteomicsDB human proteome resource

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ProteomicsDBi
59033

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q12929

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q12929

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues analyzed, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Expressed in all epithelial and fibroblastic lines examined and in some, but not all, hematopoietic cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000151491 Expressed in 235 organ(s), highest expression level in caput epididymis

CleanEx database of gene expression profiles

More...
CleanExi
HS_EPS8

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q12929 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q12929 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA003897

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Part of a complex consisting of ABI1, EPS8 and SOS1. Interacts with MYO15A and WHRN. Interacts with LANCL1 (By similarity). Interacts with EGFR; mediates EPS8 phosphorylation (By similarity). Interacts with BAIAP2. Interacts with SHB.By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108373, 62 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q12929

Database of interacting proteins

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DIPi
DIP-32859N

Protein interaction database and analysis system

More...
IntActi
Q12929, 60 interactors

Molecular INTeraction database

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MINTi
Q12929

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000281172

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1822
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q12929

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q12929

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q12929

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini69 – 129PH; first partAdd BLAST61
Domaini381 – 414PH; second partAdd BLAST34
Domaini531 – 590SH3PROSITE-ProRule annotationAdd BLAST60

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni649 – 822Effector regionBy similarityAdd BLAST174
Regioni680 – 698Amphipathic helixBy similarityAdd BLAST19
Regioni718 – 738Helix bundle 1By similarityAdd BLAST21
Regioni752 – 757Helix bundle 2By similarity6
Regioni762 – 767Helix bundle 3By similarity6
Regioni766 – 785Helix bundle 4By similarityAdd BLAST20

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi421 – 440Pro-richAdd BLAST20
Compositional biasi615 – 651Pro-richAdd BLAST37
Compositional biasi659 – 664Poly-Ser6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The effector region is required for activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. It mediates both barbed-end actin capping and actin bundling activities. The capping activity is mediated by an amphipathic helix that binds within the hydrophobic pocket at the barbed ends of actin blocking further addition of actin monomers, while the bundling activity is mediated by a compact 4 helix bundle, which contacts 3 actin subunits along the filament (By similarity).By similarity
The SH3 domain mediates interaction with SHB.

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EPS8 family.Curated

Keywords - Domaini

SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3557 Eukaryota
ENOG410XT9R LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156403

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060324

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003090

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q12929

KEGG Orthology (KO)

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KOi
K17277

Identification of Orthologs from Complete Genome Data

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OMAi
RHVDRNY

Database of Orthologous Groups

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OrthoDBi
EOG091G023T

Database for complete collections of gene phylogenies

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PhylomeDBi
Q12929

TreeFam database of animal gene trees

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TreeFami
TF313069

Family and domain databases

Conserved Domains Database

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CDDi
cd01210 PTB_EPS8, 1 hit
cd11764 SH3_Eps8, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR030222 EPS8
IPR039801 EPS8-like
IPR033928 EPS8_PTB
IPR035462 Eps8_SH3
IPR011993 PH-like_dom_sf
IPR013625 PTB
IPR006020 PTB/PI_dom
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain

The PANTHER Classification System

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PANTHERi
PTHR12287 PTHR12287, 1 hit
PTHR12287:SF21 PTHR12287:SF21, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF08416 PTB, 1 hit
PF00018 SH3_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00462 PTB, 1 hit
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50044 SSF50044, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50002 SH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q12929-1) [UniParc]FASTAAdd to basket

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
MNGHISNHPS SFGMYPSQMN GYGSSPTFSQ TDREHGSKTS AKALYEQRKN
60 70 80 90 100
YARDSVSSVS DISQYRVEHL TTFVLDRKDA MITVDDGIRK LKLLDAKGKV
110 120 130 140 150
WTQDMILQVD DRAVSLIDLE SKNELENFPL NTIQHCQAVM HSCSYDSVLA
160 170 180 190 200
LVCKEPTQNK PDLHLFQCDE VKANLISEDI ESAISDSKGG KQKRRPDALR
210 220 230 240 250
MISNADPSIP PPPRAPAPAP PGTVTQVDVR SRVAAWSAWA ADQGDFEKPR
260 270 280 290 300
QYHEQEETPE MMAARIDRDV QILNHILDDI EFFITKLQKA AEAFSELSKR
310 320 330 340 350
KKNKKGKRKG PGEGVLTLRA KPPPPDEFLD CFQKFKHGFN LLAKLKSHIQ
360 370 380 390 400
NPSAADLVHF LFTPLNMVVQ ATGGPELASS VLSPLLNKDT IDFLNYTVNG
410 420 430 440 450
DERQLWMSLG GTWMKARAEW PKEQFIPPYV PRFRNGWEPP MLNFMGATME
460 470 480 490 500
QDLYQLAESV ANVAEHQRKQ EIKRLSTEHS SVSEYHPADG YAFSSNIYTR
510 520 530 540 550
GSHLDQGEAA VAFKPTSNRH IDRNYEPLKT QPKKYAKSKY DFVARNNSEL
560 570 580 590 600
SVLKDDILEI LDDRKQWWKV RNASGDSGFV PNNILDIVRP PESGLGRADP
610 620 630 640 650
PYTHTIQKQR MEYGPRPADT PPAPSPPPTP APVPVPLPPS TPAPVPVSKV
660 670 680 690 700
PANITRQNSS SSDSGGSIVR DSQRHKQLPV DRRKSQMEEV QDELIHRLTI
710 720 730 740 750
GRSAAQKKFH VPRQNVPVIN ITYDSTPEDV KTWLQSKGFN PVTVNSLGVL
760 770 780 790 800
NGAQLFSLNK DELRTVCPEG ARVYSQITVQ KAALEDSSGS SELQEIMRRR
810 820
QEKISAAASD SGVESFDEGS SH
Length:822
Mass (Da):91,882
Last modified:November 1, 1996 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iAC5EB1D28B784B3B
GO
Isoform 2 (identifier: Q12929-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-260: Missing.

Note: No experimental confirmation available.
Show »
Length:562
Mass (Da):62,871
Checksum:i8670D1025054D476
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0R8F5H0R8_HUMAN
Epidermal growth factor receptor ki...
EPS8
200Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H3Q6F5H3Q6_HUMAN
Epidermal growth factor receptor ki...
EPS8
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYM8F5GYM8_HUMAN
Epidermal growth factor receptor ki...
EPS8
120Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YFG1H0YFG1_HUMAN
Epidermal growth factor receptor ki...
EPS8
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H2B8F5H2B8_HUMAN
Epidermal growth factor receptor ki...
EPS8
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H1B5F5H1B5_HUMAN
Epidermal growth factor receptor ki...
EPS8
67Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YE63A0A2R8YE63_HUMAN
Epidermal growth factor receptor ki...
EPS8
839Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4W2A0A2R8Y4W2_HUMAN
Epidermal growth factor receptor ki...
EPS8
830Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H714F5H714_HUMAN
Epidermal growth factor receptor ki...
EPS8
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti73F → S in BAF84466 (PubMed:14702039).Curated1
Sequence conflicti128F → S in BAF84466 (PubMed:14702039).Curated1
Sequence conflicti194R → G in BAF84466 (PubMed:14702039).Curated1
Sequence conflicti205A → S in BAF85620 (PubMed:14702039).Curated1
Sequence conflicti497I → V in BAF85620 (PubMed:14702039).Curated1
Sequence conflicti631A → V in AAH30010 (PubMed:15489334).Curated1
Sequence conflicti705A → T in BAF85620 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050971761D → E1 PublicationCorresponds to variant dbSNP:rs7137185EnsemblClinVar.1
Natural variantiVAR_050972806A → S. Corresponds to variant dbSNP:rs1802658Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0564601 – 260Missing in isoform 2. 1 PublicationAdd BLAST260

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U12535 mRNA Translation: AAA62280.1
AK291777 mRNA Translation: BAF84466.1
AK292931 mRNA Translation: BAF85620.1
AK301834 mRNA Translation: BAG63278.1
AK316134 mRNA Translation: BAH14505.1
AK316239 mRNA Translation: BAH14610.1
AC022073 Genomic DNA No translation available.
AC073651 Genomic DNA No translation available.
AC092753 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96354.1
CH471094 Genomic DNA Translation: EAW96355.1
BC030010 mRNA Translation: AAH30010.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31753.1 [Q12929-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
I38728

NCBI Reference Sequences

More...
RefSeqi
NP_004438.3, NM_004447.5 [Q12929-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.591160

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000281172; ENSP00000281172; ENSG00000151491 [Q12929-1]
ENST00000540613; ENSP00000441888; ENSG00000151491 [Q12929-2]
ENST00000542903; ENSP00000437806; ENSG00000151491 [Q12929-2]
ENST00000543523; ENSP00000441867; ENSG00000151491 [Q12929-1]
ENST00000543612; ENSP00000442388; ENSG00000151491 [Q12929-1]
ENST00000642278; ENSP00000494689; ENSG00000151491 [Q12929-1]
ENST00000644374; ENSP00000495956; ENSG00000151491 [Q12929-1]
ENST00000645775; ENSP00000495824; ENSG00000151491 [Q12929-1]
ENST00000646828; ENSP00000494842; ENSG00000151491 [Q12929-1]
ENST00000646918; ENSP00000495722; ENSG00000151491 [Q12929-1]
ENST00000647087; ENSP00000496406; ENSG00000151491 [Q12929-1]
ENST00000647224; ENSP00000496516; ENSG00000151491 [Q12929-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2059

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2059

UCSC genome browser

More...
UCSCi
uc001rdb.4 human [Q12929-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U12535 mRNA Translation: AAA62280.1
AK291777 mRNA Translation: BAF84466.1
AK292931 mRNA Translation: BAF85620.1
AK301834 mRNA Translation: BAG63278.1
AK316134 mRNA Translation: BAH14505.1
AK316239 mRNA Translation: BAH14610.1
AC022073 Genomic DNA No translation available.
AC073651 Genomic DNA No translation available.
AC092753 Genomic DNA No translation available.
CH471094 Genomic DNA Translation: EAW96354.1
CH471094 Genomic DNA Translation: EAW96355.1
BC030010 mRNA Translation: AAH30010.1
CCDSiCCDS31753.1 [Q12929-1]
PIRiI38728
RefSeqiNP_004438.3, NM_004447.5 [Q12929-1]
UniGeneiHs.591160

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E8MNMR-A699-784[»]
ProteinModelPortaliQ12929
SMRiQ12929
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108373, 62 interactors
CORUMiQ12929
DIPiDIP-32859N
IntActiQ12929, 60 interactors
MINTiQ12929
STRINGi9606.ENSP00000281172

PTM databases

iPTMnetiQ12929
PhosphoSitePlusiQ12929

Polymorphism and mutation databases

BioMutaiEPS8
DMDMi2833239

Proteomic databases

EPDiQ12929
MaxQBiQ12929
PaxDbiQ12929
PeptideAtlasiQ12929
PRIDEiQ12929
ProteomicsDBi59033

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2059
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000281172; ENSP00000281172; ENSG00000151491 [Q12929-1]
ENST00000540613; ENSP00000441888; ENSG00000151491 [Q12929-2]
ENST00000542903; ENSP00000437806; ENSG00000151491 [Q12929-2]
ENST00000543523; ENSP00000441867; ENSG00000151491 [Q12929-1]
ENST00000543612; ENSP00000442388; ENSG00000151491 [Q12929-1]
ENST00000642278; ENSP00000494689; ENSG00000151491 [Q12929-1]
ENST00000644374; ENSP00000495956; ENSG00000151491 [Q12929-1]
ENST00000645775; ENSP00000495824; ENSG00000151491 [Q12929-1]
ENST00000646828; ENSP00000494842; ENSG00000151491 [Q12929-1]
ENST00000646918; ENSP00000495722; ENSG00000151491 [Q12929-1]
ENST00000647087; ENSP00000496406; ENSG00000151491 [Q12929-1]
ENST00000647224; ENSP00000496516; ENSG00000151491 [Q12929-1]
GeneIDi2059
KEGGihsa:2059
UCSCiuc001rdb.4 human [Q12929-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2059
DisGeNETi2059
EuPathDBiHostDB:ENSG00000151491.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EPS8
HGNCiHGNC:3420 EPS8
HPAiHPA003897
MalaCardsiEPS8
MIMi600206 gene
615974 phenotype
neXtProtiNX_Q12929
OpenTargetsiENSG00000151491
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA27839

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3557 Eukaryota
ENOG410XT9R LUCA
GeneTreeiENSGT00940000156403
HOGENOMiHOG000060324
HOVERGENiHBG003090
InParanoidiQ12929
KOiK17277
OMAiRHVDRNY
OrthoDBiEOG091G023T
PhylomeDBiQ12929
TreeFamiTF313069

Enzyme and pathway databases

SignaLinkiQ12929

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EPS8 human
EvolutionaryTraceiQ12929

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
EPS8

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2059

Protein Ontology

More...
PROi
PR:Q12929

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000151491 Expressed in 235 organ(s), highest expression level in caput epididymis
CleanExiHS_EPS8
ExpressionAtlasiQ12929 baseline and differential
GenevisibleiQ12929 HS

Family and domain databases

CDDicd01210 PTB_EPS8, 1 hit
cd11764 SH3_Eps8, 1 hit
Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR030222 EPS8
IPR039801 EPS8-like
IPR033928 EPS8_PTB
IPR035462 Eps8_SH3
IPR011993 PH-like_dom_sf
IPR013625 PTB
IPR006020 PTB/PI_dom
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PANTHERiPTHR12287 PTHR12287, 1 hit
PTHR12287:SF21 PTHR12287:SF21, 1 hit
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
PROSITEiView protein in PROSITE
PS50002 SH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEPS8_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q12929
Secondary accession number(s): A6NMC3
, A8K6W2, A8KA66, B4DX66, Q8N6J0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: December 5, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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