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Aliases for ENAH Gene

Aliases for ENAH Gene

  • Enabled Homolog (Drosophila) 2 3 5
  • MENA 3 4
  • Mammalian Enabled Variant 11a 3
  • Mammalian Enabled Variant Pan 3
  • Mammalian Enabled 2
  • NDPP1 3
  • ENA 3

External Ids for ENAH Gene

Previous GeneCards Identifiers for ENAH Gene

  • GC01M224165
  • GC01M221499
  • GC01M222090
  • GC01M222657
  • GC01M222659
  • GC01M221989
  • GC01M223741
  • GC01M225674
  • GC01M196193

Summaries for ENAH Gene

GeneCards Summary for ENAH Gene

ENAH (Enabled Homolog (Drosophila)) is a Protein Coding gene. Among its related pathways are Immune System and E-cadherin signaling in the nascent adherens junction. GO annotations related to this gene include actin binding and WW domain binding. An important paralog of this gene is SPRED1.

UniProtKB/Swiss-Prot for ENAH Gene

  • 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).

Gene Wiki entry for ENAH Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENAH Gene

Genomics for ENAH Gene

Regulatory Elements for ENAH Gene

Genomic Location for ENAH Gene

Chromosome:
1
Start:
225,486,832 bp from pter
End:
225,661,676 bp from pter
Size:
174,845 bases
Orientation:
Minus strand

Genomic View for ENAH Gene

Genes around ENAH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENAH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENAH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENAH Gene

Proteins for ENAH Gene

  • Protein details for ENAH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N8S7-ENAH_HUMAN
    Recommended name:
    Protein enabled homolog
    Protein Accession:
    Q8N8S7
    Secondary Accessions:
    • D0PQI2
    • Q502W5
    • Q5T5M7
    • Q5VTQ9
    • Q5VTR0
    • Q9NVF3
    • Q9UFB8

    Protein attributes for ENAH Gene

    Size:
    591 amino acids
    Molecular mass:
    66510 Da
    Quaternary structure:
    • 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.
    Miscellaneous:
    • Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes.
    SequenceCaution:
    • 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};

    Three dimensional structures from OCA and Proteopedia for ENAH Gene

    Alternative splice isoforms for ENAH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENAH Gene

Proteomics data for ENAH Gene at MOPED

Post-translational modifications for ENAH Gene

  • NTN1-induced PKA phosphorylation on Ser-265 directly parallels the formation of filopodial protrusions.
  • Ubiquitination at Lys 69 and Lys 574
  • Modification sites at PhosphoSitePlus

Other Protein References for ENAH Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENAH (Mena)

No data available for DME Specific Peptides for ENAH Gene

Domains & Families for ENAH Gene

Gene Families for ENAH Gene

Protein Domains for ENAH Gene

Suggested Antigen Peptide Sequences for ENAH Gene

Graphical View of Domain Structure for InterPro Entry

Q8N8S7

UniProtKB/Swiss-Prot:

ENAH_HUMAN :
  • 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.
  • Belongs to the Ena/VASP family.
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.
  • Contains 1 WH1 domain.
Family:
  • Belongs to the Ena/VASP family.
genes like me logo Genes that share domains with ENAH: view

Function for ENAH Gene

Molecular function for ENAH Gene

UniProtKB/Swiss-Prot 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).
genes like me logo Genes that share phenotypes with ENAH: view

Animal Models for ENAH Gene

MGI Knock Outs for ENAH:

Animal Model Products

miRNA for ENAH Gene

miRTarBase miRNAs that target ENAH

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENAH Gene

Localization for ENAH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENAH Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, filopodium. Cell junction, synapse. 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}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ENAH Gene COMPARTMENTS Subcellular localization image for ENAH gene
Compartment Confidence
cytosol 5
plasma membrane 5
cytoskeleton 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ENAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0030027 lamellipodium IEA --
genes like me logo Genes that share ontologies with ENAH: view

Pathways & Interactions for ENAH Gene

genes like me logo Genes that share pathways with ENAH: view

Gene Ontology (GO) - Biological Process for ENAH Gene

None

No data available for SIGNOR curated interactions for ENAH Gene

Drugs & Compounds for ENAH Gene

No Compound Related Data Available

Transcripts for ENAH Gene

Unigene Clusters for ENAH Gene

Enabled homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ENAH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ENAH Gene

GeneLoc Exon Structure for
ENAH
ECgene alternative splicing isoforms for
ENAH

Expression for ENAH Gene

mRNA expression in normal human tissues for ENAH Gene

Protein differential expression in normal tissues from HIPED for ENAH Gene

This gene is overexpressed in Bone marrow stromal cell (10.4) and Urinary Bladder (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ENAH Gene



SOURCE GeneReport for Unigene cluster for ENAH Gene Hs.497893

mRNA Expression by UniProt/SwissProt for ENAH Gene

Q8N8S7-ENAH_HUMAN
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.
genes like me logo Genes that share expression patterns with ENAH: view

Protein tissue co-expression partners for ENAH Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ENAH Gene

Orthologs for ENAH Gene

This gene was present in the common ancestor of animals.

Orthologs for ENAH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENAH 36
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENAH 36
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENAH 36
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Enah 16
Enah 35
  • 88.37 (n)
  • 89.93 (a)
Enah 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENAH 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENAH 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Enah 35
  • 95.07 (n)
  • 97.89 (a)
chicken
(Gallus gallus)
Aves AVENAII 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENAH 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7007 35
zebrafish
(Danio rerio)
Actinopterygii enah 36
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ena 36
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-34 36
  • 25 (a)
OneToMany
Species with no ortholog for ENAH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ENAH Gene

ENSEMBL:
Gene Tree for ENAH (if available)
TreeFam:
Gene Tree for ENAH (if available)

Paralogs for ENAH Gene

Paralogs for ENAH Gene

Pseudogenes.org Pseudogenes for ENAH Gene

genes like me logo Genes that share paralogs with ENAH: view

Variants for ENAH Gene

Sequence variations from dbSNP and Humsavar for ENAH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs6751 -- 225,494,858(-) CTACA(C/T)GCTAA utr-variant-3-prime
rs498350 -- 225,585,497(+) aaatt(C/G)aataa intron-variant
rs525062 -- 225,576,700(+) CACCA(C/T)AGGAG intron-variant
rs526201 -- 225,592,464(+) TAGGC(C/T)AAAGT intron-variant
rs550444 -- 225,593,278(-) ATTAA(A/G)ATAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ENAH Gene

Variant ID Type Subtype PubMed ID
nsv832714 CNV Loss 17160897
esv34905 CNV Gain 17911159
nsv873227 CNV Gain 21882294
nsv8880 CNV Gain 18304495
nsv826842 CNV Gain 20364138
nsv441740 CNV CNV 18776908
nsv433350 CNV Gain 18776910
dgv534n71 CNV Gain 21882294
dgv185e1 CNV Complex 17122850
dgv186e1 CNV Complex 17122850
nsv4720 CNV Loss 18451855
nsv4731 CNV Insertion 18451855
esv2723872 CNV Deletion 23290073
esv2723883 CNV Deletion 23290073
esv2723894 CNV Deletion 23290073
esv2743161 CNV Deletion 23290073
esv2743163 CNV Deletion 23290073
esv2656690 CNV Deletion 23128226
nsv832725 CNV Gain 17160897
esv2743164 CNV Deletion 23290073
esv2660989 CNV Deletion 23128226
esv2723905 CNV Deletion 23290073
nsv511737 CNV Loss 21212237
esv2621711 CNV Deletion 19546169
esv2723918 CNV Deletion 23290073
esv1963994 CNV Deletion 18987734
esv4193 CNV Deletion 18987735
esv7564 CNV Loss 19470904
esv1034120 CNV Deletion 17803354
nsv832736 CNV Loss 17160897

Variation tolerance for ENAH Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ENAH Gene

HapMap Linkage Disequilibrium report
ENAH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ENAH Gene

Disorders for ENAH Gene

Relevant External Links for ENAH

Genetic Association Database (GAD)
ENAH
Human Genome Epidemiology (HuGE) Navigator
ENAH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ENAH

No disorders were found for ENAH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ENAH Gene

Publications for ENAH Gene

  1. Tes, a specific Mena interacting partner, breaks the rules for EVH1 binding. (PMID: 18158903) Boeda B. … Way M. (Mol. Cell 2007) 3 4 23 67
  2. Characterization of human Enah gene. (PMID: 16494957) Urbanelli L. … Orlacchio A. (Biochim. Biophys. Acta 2006) 2 3
  3. TES is a novel focal adhesion protein with a role in cell spreading. (PMID: 12571287) Coutts A.S. … Black D.M. (J. Cell Sci. 2003) 3 23
  4. The conformational state of Tes regulates its zyxin-dependent recruitment to focal adhesions. (PMID: 12695497) Garvalov B.K. … Way M. (J. Cell Biol. 2003) 3 23
  5. A novel proline-rich motif present in ActA of Listeria monocytogenes and cytoskeletal proteins is the ligand for the EVH1 domain, a protein module present in the Ena/VASP family. (PMID: 9312002) Niebuhr K. … Chakraborty T. (EMBO J. 1997) 3 23

Products for ENAH Gene

Sources for ENAH Gene

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