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MGP005480

UniProt Annotations

Entry Information

Gene Name	enabled homolog (Drosophila)
Protein Entry	ENAH_HUMAN
UniProt ID	Q8N8S7
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N8S7-1; Sequence=Displayed; Name=2; IsoId=Q8N8S7-2; Sequence=VSP_010564; Note=Contains a phosphothreonine at position 502. Contains a phosphoserine at position 512.; Name=3; Synonyms=Deltav6; IsoId=Q8N8S7-3; Sequence=VSP_053772, VSP_053773; Note=Expression restricted to invasive cancer cells. Contains a phosphothreonine at position 465. Contains a phosphoserine at position 475.;
Domain	The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.
Function	Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity). {ECO:0000250}.
Interaction	Q14517:FAT1; NbExp=2; IntAct=EBI-2834410, EBI-1171918;
Miscellaneous	Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes. {ECO:0000250}.
Ptm	NTN1-induced PKA phosphorylation on Ser-265 directly parallels the formation of filopodial protrusions. {ECO:0000250}.
Sequence Caution	Sequence=BAA91799.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04736.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22018.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22020.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the Ena/VASP family. {ECO:0000305}.
Similarity	Contains 1 WH1 domain. {ECO:0000255\|PROSITE- ProRule:PRU00410}.
Subcellular Location	Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cell projection, filopodium {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, focal adhesion. Note=Targeted to the leading edge of lamellipodia and filopodia by MRL family members. Colocalizes at filopodial tips with a number of other proteins including vinculin and zyxlin. Colocalizes with N-WASP at the leading edge. Colocalizes with GPHN and PFN at synapses (By similarity). {ECO:0000250}.
Subunit	Homotetramer (By similarity). Interacts with APBB1IP, APBB1, PFN1 and ROBO4. Isoforms, containing the polyproline-rich regions with PPLP motifs, bind the WW domain of APBB1IP. Isoforms, containing the PPSY motif, bind, in vitro, to the WW2 and WW3 domains of NEDD4 and to the WW1 domain of YAP1. Binds the SH3 domain of BAIAP2-alpha but only after the autoinhibitory region of BAIAP2-alpha has been blocked by interaction with CDC42. Interacts, via the EVH1/WH1 domain, with the Pro-rich domains from VCL, ZYX and Listeria monocytogenes actA and with TES (via LIM domains). The TES LIM domain and the Pro-rich domains from VCL or ZYX compete for the same binding site. Interaction with ZYX is important for targeting ENAH to focal adhesions and enhances production of actin-rich structures at the apical surface of cells. Interacts, through the Pro-rich region, with the C-terminal SH3 domain of DNMPB. Binds GPHN (By similarity). Interacts with FAT1 (via EVH1 domains) (By similarity). Heterotrimer with TES and ACTL7A. {ECO:0000250, ECO:0000269\|PubMed:10801818, ECO:0000269\|PubMed:11696321, ECO:0000269\|PubMed:12941633, ECO:0000269\|PubMed:15469846, ECO:0000269\|PubMed:17686488, ECO:0000269\|PubMed:18158903, ECO:0000269\|PubMed:21278383, ECO:0000269\|PubMed:9312002}.
Tissue Specificity	Expressed in myoepithelia of parotid, breast, bronchial glands and sweat glands. Expressed in colon-rectum muscolaris mucosae epithelium, pancreas acinar ductal epithelium, endometrium epithelium, prostate fibromuscolar stroma and placenta vascular media. Overexpressed in a majority of breast cancer cell lines and primary breast tumor lesions. {ECO:0000269\|PubMed:15027125}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ENAHID44148ch1q42.html";